FDA granted priority review to Olaparib for adjuvant treatment of certain patients with high-risk breast cancer. This designation applies to use of the agent by patients with BRCA-mutated, HER2-negative, high-risk early breast cancer who receive chemotherapy before or after surgery. For additional information, visit: https://tinyurl.com/healioFDAapproval
Permanent link to this article: https://inheritedcancer.net/post120621/
A recent article ๐น๐ฒ๐ฑ ๐ฏ๐ ๐๐ฟ๐. ๐ฆ๐ผ๐ป๐๐ฎ ๐ฅ๐ฒ๐ถ๐ฑ ๐ฎ๐ป๐ฑ ๐ง๐๐๐ฎ ๐ฃ๐ฎ๐น ๐ผ๐ณ ๐๐ต๐ฒ ๐๐๐๐ฅ๐ ๐๐ฒ๐ฎ๐บ, published in ๐๐ณ๐ฆ๐ข๐ด๐ต ๐๐ข๐ฏ๐ค๐ฆ๐ณ ๐๐ฆ๐ด๐ฆ๐ข๐ณ๐ค๐ฉ ๐ข๐ฏ๐ฅ ๐๐ณ๐ฆ๐ข๐ต๐ฎ๐ฆ๐ฏ๐ต, outlines the impact of race and molecular subtype on HR+, HER2- breast cancer survival. Check out the full article at https://link.springer.com/content/pdf/10.1007/s10549-021-06342-0.pdf Reference: Reid et al. Breast Cancer Res Treat. 2021 Oct;189(3):845-852. PMID: 34331630.
Permanent link to this article: https://inheritedcancer.net/post120321/
For more information, read the Lancet Oncology article led by The International Mismatch Repair Consortium at the below link ๐https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/fulltext Reference: International Mismatch Repair Consortium. Lancet Oncol. 2021 Jul;22(7):1014-1022. PMID: 34111421.
Permanent link to this article: https://inheritedcancer.net/post113021/
For more information, view the article at ๐https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djab141/6323231 Reference: Johnson et al. PMID: 34291289.
Permanent link to this article: https://inheritedcancer.net/post110921/
For more information, read the full article at: https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/2782345
Permanent link to this article: https://inheritedcancer.net/post110221/
For more information, read the full article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2783767 Reference: Hsu, et al. JAMA Oncol. 2021 Sep 16:e213701. PMID: 34529012.
Permanent link to this article: https://inheritedcancer.net/post100121/
Check out the full ๐๐๐ ๐๐ฐ๐ฅ๐ข๐บ article, featuring commentary from Dr. Tuya Pal (ICARE Founder), highlighting the importance of PALB2 as an inherited breast cancer gene: https://www.futureofpersonalhealth.com/breast-health/fighting-cancer-with-your-own-family-history/# Additional guidance is available through an impactful PALB2 practice resource recently published through ACMG: https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Reference: Tischkowitz, et al. Genet Med. 2021 Aug;23(8):1416-1423. PMID: 33976419
Permanent link to this article: https://inheritedcancer.net/post92221/
The National Comprehensive Cancer Network (NCCN) released new guidelines on August 11th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91021/
To view the 30 consensus statements, read the full article at: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.33679
Permanent link to this article: https://inheritedcancer.net/post83121/
For more information, view the article at ๐https://ascopubs.org/doi/full/10.1200/JCO.21.00531
Permanent link to this article: https://inheritedcancer.net/post82421/
For additional information, read the Journal of Clinical Oncology article at the link below ๐ https://ascopubs.org/doi/10.1200/JCO.20.01200
Permanent link to this article: https://inheritedcancer.net/post82021/
A New York Times article just published focused on the importance of PALB2 as a breast cancer gene (https://www.nytimes.com/โฆ/breast-cancer-palb2-brca.html), which referenced our recent article focused on managing PALB2 carriers sponsored by ACMG – American College of Medical Genetics and Genomics, and developed through a worldwide collaboration (including: Marc Tischkowicz, Judith Balmana, Will Foulkes, Paul James, …
Permanent link to this article: https://inheritedcancer.net/post81921/
Check out the article for more information: https://ascopubs.org/doi/pdf/10.1200/JCO.20.03661
Permanent link to this article: https://inheritedcancer.net/post81621/
For more information, read the ๐๐ฐ๐ถ๐ณ๐ฏ๐ข๐ญ ๐ฐ๐ง ๐๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐๐ฏ๐ค๐ฐ๐ญ๐ฐ๐จ๐บ article at the link below:https://ascopubs.org/doi/figure/10.1200/JCO.20.01992
Permanent link to this article: https://inheritedcancer.net/post81321/
For additional information, read the updated American Society of Clinical Oncology (ASCO) recommendation (released June 15th, 2021) at the following link: https://www.asco.org/practice-patients/guidelines/breast-cancer?intcmp=ws_ascoorg_gdlns_hereditarybreastcancer_site_pressrelease_061621____#/143725
Permanent link to this article: https://inheritedcancer.net/post81021/
For more information, view the AJOG article by Lieske Schrijver and colleagues at the following link: https://www.ajog.org/article/S0002-9378(21)00038-7/fulltext
Permanent link to this article: https://inheritedcancer.net/post80621/
For more information, view the article at: https://ascopubs.org/doi/full/10.1200/GO.21.00051
Permanent link to this article: https://inheritedcancer.net/post80321/
For more information, view the article at: https://ascopubs.org/doi/10.1200/PO.20.00525
Permanent link to this article: https://inheritedcancer.net/post72721/
For additional information, read the article at the link below: https://academic.oup.com/ajcn/article-abstract/113/4/810/6155851
Permanent link to this article: https://inheritedcancer.net/post72021/
For more information visit: https://www.cancernetwork.com/view/multi-trial-analysis-indicates-niraparib-maintenance-for-brca-ovarian-cancer-leads-to-pfs-benefit-across-settings
Permanent link to this article: https://inheritedcancer.net/post71621/
Check out the full article for more information: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djab006/6117446
Permanent link to this article: https://inheritedcancer.net/post71321/
Check out the Nature Communications article for more information: https://www.nature.com/articles/s41467-021-22582-6
Permanent link to this article: https://inheritedcancer.net/post70921/
For more information, view the article at the following link below: https://ascopubs.org/doi/abs/10.1200/JCO.21.00003 You may also read the ASCO post article at: https://ascopost.com/news/may-2021/maintenance-rucaparib-in-patients-with-platinum-sensitive-pancreatic-cancer-and-germline-or-somatic-brca1-brca2-or-palb2-variants/?utm_source=TAP%2DEN%2D051221%2DTrending%5FLymphoma&utm_medium=email&utm_term=49cf1c97d48c2cf8231827e3bcb15769
Permanent link to this article: https://inheritedcancer.net/post70621/
For more information, read the article available at: https://www.nature.com/articles/s41416-021-01410-0
Permanent link to this article: https://inheritedcancer.net/post70221/
For more information, please visit: https://www.cancertherapyadvisor.com/home/news/conference-coverage/st-gallen-international-breast-cancer-conference/sg-bcc-2021/breast-cancer-screening-brca-improves-survival-mutation
Permanent link to this article: https://inheritedcancer.net/post62921/
For additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936
Permanent link to this article: https://inheritedcancer.net/post62521/
For more information, view the article at: https://pubmed.ncbi.nlm.nih.gov/33609447/
Permanent link to this article: https://inheritedcancer.net/post62221/
For more information, view the article at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2776805
Permanent link to this article: https://inheritedcancer.net/post61521/
For more information view the article at: https://www.nejm.org/doi/full/10.1056/NEJMoa2105215
Permanent link to this article: https://inheritedcancer.net/post61121/
For more information, view the article at the following link: https://ascopubs.org/doi/full/10.1200/PO.20.00418
Permanent link to this article: https://inheritedcancer.net/post52821/
In recognition of ๐ช๐ผ๐บ๐ฒ๐ป’๐ ๐๐ฒ๐ฎ๐น๐๐ต ๐ ๐ผ๐ป๐๐ต, listen to our colleague, Dr. Sonya Reid, talk about the importance of mammography for the early detection of breast cancer! To learn more, check out the American Cancer Society’s Recommendations for the Early Detection of Breast Cancer at: https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html
Permanent link to this article: https://inheritedcancer.net/post52421/
The United States Preventive Services Task Force (USPSTF) now recommends routine colorectal cancer screening begin at age 45 (lowered from the previous recommendation to start screening at age 50) due to an increasing number of colorectal cancer cases in younger adults. For more information, check out the full JAMA article at: https://jamanetwork.com/journals/jama/fullarticle/2779985
Permanent link to this article: https://inheritedcancer.net/post52121/
The American College of Medical Genetics and Genomics (ACMG) recently released the highly anticipated recommended minimum gene list for reporting secondary findings (SF) in clinical exome and genome sequencing. ACMG SF v3.0 added 3 new cancer genes (๐๐๐๐2, ๐๐๐, and ๐๐๐๐127) to bring the total number of inherited cancer genes to 28. For more information …
Permanent link to this article: https://inheritedcancer.net/post52121_2/
For more information, read the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.02220
Permanent link to this article: https://inheritedcancer.net/post51821/
๐๐ฏ ๐ณ๐ฆ๐ค๐ฐ๐จ๐ฏ๐ช๐ต๐ช๐ฐ๐ฏ ๐ฐ๐ง ๐ด๐ฌ๐ช๐ฏ ๐ค๐ข๐ฏ๐ค๐ฆ๐ณ ๐ข๐ธ๐ข๐ณ๐ฆ๐ฏ๐ฆ๐ด๐ด ๐ฎ๐ฐ๐ฏ๐ต๐ฉ, we present cancer risks and management for ๐๐๐๐ก๐ฎ๐ per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 ๐ ๐ฒ๐ป & ๐ช๐ผ๐บ๐ฒ๐ป:Melanoma risk: Elevated at 28-67% – Recommend annual full-body skin exam, regular self-examinations, and routine sun protective behaviors. Pancreatic cancer risk: >15% – Consider MRI/MRCP and/or endoscopic …
Permanent link to this article: https://inheritedcancer.net/post51321/
Check out the newly released ACMG Clinical Practice Resource on ๐ฃ๐๐๐๐ฎ developed through a group of worldwide experts!https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Read the ACMG press release at: https://www.acmg.net/PDFLibrary/Global%20Team%20of%20Cancer%20Genetic%20Specialists%20release%20final%20template%205%206.final.pdf
Permanent link to this article: https://inheritedcancer.net/post51121/
For additional information, view the BMJ article available at: ๐ https://www.bmj.com/content/372/bmj.n214
Permanent link to this article: https://inheritedcancer.net/post50321/
The ๐๐๐๐ช๐๐๐ฃ๐ ๐๐๐ง๐๐๐๐ฉ๐๐ง๐ฎ ๐พ๐๐ฃ๐๐๐ง ๐ผ๐๐ฉ is being proposed to ensure Medicare beneficiaries have access to inherited cancer genetic testing, increased screening, and risk-reducing procedures, when medically necessary & appropriate. Under current Medicare guidelines, only those with “signs, symptoms, complaints, or personal histories of disease” meet the criteria for medical services coverage. Genetic testing is only …
Permanent link to this article: https://inheritedcancer.net/post43021/
For more information, view the JAMA Oncology article available at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2776761
Permanent link to this article: https://inheritedcancer.net/post42821/
For more information, read the recently published ASCO Daily News editorial led by ๐๐ฟ. ๐ฆ๐ผ๐ป๐๐ฎ ๐ฅ๐ฒ๐ถ๐ฑ from Vanderbilt University Medical Center, which focused on racial disparities in breast cancer clinical trial enrollment: https://dailynews.ascopubs.org/do/10.1200/ADN.21.200499/full/
Permanent link to this article: https://inheritedcancer.net/post42321/
Check out Susan G. Komen’s “๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐๐ถ๐๐๐ผ๐ฟ๐, ๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐ฅ๐ถ๐๐ธ” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: ๐ https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ ๐ https://blog.komen.org/news/black-history-month/
Permanent link to this article: https://inheritedcancer.net/post42021/
For more information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post41321/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Rebecca Smith explains how a genetic change (or mutation) is classified as pathogenic or benign. Check out Dr. Smith’s full response in our Winter 2021 newsletter at: https://inheritedcancer.net/newsletters/
Permanent link to this article: https://inheritedcancer.net/post40921/
For further information, view the article available at:https://www.ahajournals.org/doi/abs/10.1161/CIRCULATIONAHA.120.048996
Permanent link to this article: https://inheritedcancer.net/post40621/
Check out a recent article led by the ICARE team, published in the Journal of Genetic Counseling, outlining family communication of genetic test results among female BRCA1/2, PALB2, CHEK2, and ATM carriers. Check out the full article at: https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1356
Permanent link to this article: https://inheritedcancer.net/post40221/
Gene: STK11 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Women:Breast cancer risk: Elevated at 40-60% – Recommend annual mammogram and breast MRI starting at around age 30. Ovarian tumor risk (typically benign sex cord/Sertoli cell tumors): Elevated at 18-21% – Recommend annual pelvic exam starting at …
Permanent link to this article: https://inheritedcancer.net/post33021/
Gene: MUTYH Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Men & women with two mutations in MUTYH:Colon cancer risk: High risk – Recommend colonoscopy every 1-2 years beginning at age 25-30; colectomy considered based on polyp burden and age. Duodenal cancer risk: Elevated – Consider baseline …
Permanent link to this article: https://inheritedcancer.net/post32321/
In every ICARE newsletter we feature a ๐ฐ๐ผ๐บ๐บ๐๐ป๐ถ๐๐ ๐๐ฝ๐ผ๐๐น๐ถ๐ด๐ต๐ to share their experience with inherited cancer. In the latest edition, Dave Dubin, co-founder of AliveAndKickn, shares his experience with Lynch Syndrome. Check out his full story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post31921/
๐๐ฒ๐ป๐ฒ: ๐๐ฃ๐ Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 ๐ ๐ฒ๐ป & ๐ช๐ผ๐บ๐ฒ๐ป:๐๐๐ mutation leading to classic form of Familial Adenomatous Polyposis (FAP):Colorectal cancer risk: >99% if untreated – Treatment is based on polyp burden and includes proctocolectomy (with subsequent endoscopic screening of the ileal pouch) or …
Permanent link to this article: https://inheritedcancer.net/post31621/
In honor of ๐๐ผ๐น๐ผ๐ฟ๐ฒ๐ฐ๐๐ฎ๐น ๐๐ฎ๐ป๐ฐ๐ฒ๐ฟ ๐๐๐ฎ๐ฟ๐ฒ๐ป๐ฒ๐๐ ๐ ๐ผ๐ป๐๐ต, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov
Permanent link to this article: https://inheritedcancer.net/post31221/
For additional information about the: ใUS-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 ใInternational study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 ใAccompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083
Permanent link to this article: https://inheritedcancer.net/post30921/
For further information, view the article available at: https://www.gynecologiconcology-online.net/action/showPdf?pii=S0090-8258%2820%2933947-0
Permanent link to this article: https://inheritedcancer.net/post30221/
For additional information visit: https://www.onclive.com/view/adjuvant-olaparib-showcases-idfs-improvement-in-brca-high-risk-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post22321/
The ICARE Winter 2021 Newsletter is now available! Check out this latest edition for recent research and clinical updates, a Q&A with a genomics expert, and an inspiring community spotlight piece. You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2021-Winter-Newsletter.pdf. Please feel free to share with family members, friends, and/or your healthcare providers.
Permanent link to this article: https://inheritedcancer.net/post20921/
Our team recently published “Sharing Genetic Test Results with Family Members of ๐๐๐๐, ๐๐๐๐2, ๐๐๐๐2, and ๐๐๐ Carriers” in ๐๐ข๐ต๐ช๐ฆ๐ฏ๐ต ๐๐ฅ๐ถ๐ค๐ข๐ต๐ช๐ฐ๐ฏ ๐ข๐ฏ๐ฅ ๐๐ฐ๐ถ๐ฏ๐ด๐ฆ๐ญ๐ช๐ฏ๐จ Special Issue on Genetics. View the article available at:https://www.sciencedirect.com/science/article/pii/S0738399120306832 Challenges and barriers to family sharing included concern for family members’ reactions, complexities of information, lack of closeness, perceived relevance, & emotional impact. …
Permanent link to this article: https://inheritedcancer.net/post20821/
Check out a recent review article led by the ICARE team, published in ๐๐น๐ฑ๐ฆ๐ณ๐ต ๐๐ฆ๐ท๐ช๐ฆ๐ธ ๐ฐ๐ง ๐๐ฐ๐ญ๐ฆ๐ค๐ถ๐ญ๐ข๐ณ ๐๐ช๐ข๐จ๐ฏ๐ฐ๐ด๐ต๐ช๐ค๐ด, outlining strategies to improve the identification of inherited breast cancer gene carriers. Check out the full article at: https://www.tandfonline.com/doi/pdf/10.1080/14737159.2020.1816829?needAccess=true
Permanent link to this article: https://inheritedcancer.net/post20221/
The Male Breast Cancer Coalition (MBCC) shares stories from male breast cancer survivors all over the world. To learn more and find resources for affected men and their families, please visit https://malebreastcancercoalition.org/. MBCC also developed printable and shareable cards in over 20 languages outlining the proper way to do self-breast exams for both men and …
Permanent link to this article: https://inheritedcancer.net/post12621/
ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย ย Although we don’t typically post on vaccines, given the public health importance of the COVID-19 vaccine and the questions we have received related to whether the vaccine could change one’s DNA, we …
Permanent link to this article: https://inheritedcancer.net/post12221/
Check out a new article by the ICARE team, published in Patient Education and Counseling, evaluating the motivators and barriers to sharing personal genetic test results with family members. The article is ๐ณ๐ฟ๐ฒ๐ฒ to access and download ๐๐ป๐๐ถ๐น ๐ ๐ฎ๐ฟ๐ฐ๐ต ๐ฑ๐๐ต at: https://www.sciencedirect.com/science/article/pii/S0738399120306832
Permanent link to this article: https://inheritedcancer.net/post11521/
Check out a study led by the ICARE team, published with @SpringerNature in the Journal of Cancer Education, outlining the evaluation and refinement strategies of an interactive web-based tool developed to provide education about inherited cancer risk. Check out a full-text view-only version of the paper at https://rdcu.be/cc8sR or read the abstract at https://pubmed.ncbi.nlm.nih.gov/33400205/ (PMID: …
Permanent link to this article: https://inheritedcancer.net/post11221/
With the tremendous advances in gene-based care among those at risk for inherited cancer, we are trying to develop and improve tools and strategies to make it easier for more people to benefit from genetic testing. We are excited to share with you a free online toolkit called ๐๐ฒ๐ป๐ฒ๐ฆ๐๐๐ฅ๐, which is aimed at helping patients …
Permanent link to this article: https://inheritedcancer.net/post10821/
For further information, check out the National Cancer Institute’s PDQยฎ Cancer Genetics Summary available at: https://www.cancer.gov/publications/pdq/information-summaries/genetics
Permanent link to this article: https://inheritedcancer.net/post10521/
Approximately 4,000 women with breast cancer were tested for mutations in nine breast cancer genes – 6.2% had mutations in at least one of the nine genes, and 2.7% had mutations in either ๐ฝ๐๐พ๐ผ1 or ๐ฝ๐๐พ๐ผ2. Comparisons between women who did versus did not meet National Comprehensive Cancer Network (NCCN) guidelines for testing showed that: …
Permanent link to this article: https://inheritedcancer.net/post122920/
For further information, read the article available at: https://jnccn.org/…/journals/jnccn/18/11/article-p1528.xml
Permanent link to this article: https://inheritedcancer.net/post122220/
For additional details, read the articles at the links below: ๐ญ๐ต๐ต๐ต: https://pubmed.ncbi.nlm.nih.gov/10617473/ ๐ฎ๐ฌ๐ฌ๐ฎ: https://pubmed.ncbi.nlm.nih.gov/12442270/ ๐ฎ๐ฌ๐ฌ๐ด: https://pubmed.ncbi.nlm.nih.gov/18178638/
Permanent link to this article: https://inheritedcancer.net/post121820/
When a ๐พ๐ฟ๐1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a ๐พ๐ฟ๐1 mutation are not well understood. Identifying a ๐พ๐ฟ๐1 mutation in families with hereditary diffuse gastric cancer (HDGC) …
Permanent link to this article: https://inheritedcancer.net/post121520/
For further information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post121120/
The National Comprehensive Cancer Network (NCCN) released new guidelines on November 20th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/…/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post120820/
The most common inherited form of urothelial cancers is Lynch Syndrome. However, a study showed that of 586 individuals with urothelial cancer, 80 had a mutation in an inherited cancer gene (14%). Mutations in several genes were observed; however, ๐๐๐2 and ๐ฝ๐๐พ๐ผ2 were both significantly associated with urothelial cancer (odds ratio of 3.7). Confirmatory …
Permanent link to this article: https://inheritedcancer.net/post120420/
For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219
Permanent link to this article: https://inheritedcancer.net/post120120/
For further information, view the article available at: https://www.gynecologiconcology-online.net/…/fulltext
Permanent link to this article: https://inheritedcancer.net/post112720/
Check out the original article by visiting: https://pubmed.ncbi.nlm.nih.gov/32673153/
Permanent link to this article: https://inheritedcancer.net/post112420/
The American Society of Clinical Oncology (ASCO) published updated guidelines for the management of hereditary breast cancer for the following gene carriers: ๐ฝ๐๐พ๐ผ1/2 โข Consider breast-conserving therapy โข Consider nipple-sparing mastectomy, if medically appropriate โข Advanced breast cancer: โซธ PARP inhibitors (olaparib, talazoparib) preferred over non-platinum single agent chemotherapy โซธ Platinum agents are recommended …
Permanent link to this article: https://inheritedcancer.net/post112020/
For additional details, refer to the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01364
Permanent link to this article: https://inheritedcancer.net/post111720/
For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/PO.19.00360
Permanent link to this article: https://inheritedcancer.net/post111320/
Gene: ๐พ๐ฟ๐๐ญ Cancer Risks and Management per NCCN Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021 and Gastric Version 3.2020: ๐ช๐ผ๐บ๐ฒ๐ป: Breast cancer risk: Elevated at 55% – Recommend annual mammogram starting at age 30; consider breast MRI with contrast starting at age 30. ๐ ๐ฒ๐ป ๐ฎ๐ป๐ฑ ๐ช๐ผ๐บ๐ฒ๐ป: Stomach cancer risk: Elevated at 83% for women, and 67% …
Permanent link to this article: https://inheritedcancer.net/post103020/
For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768
Permanent link to this article: https://inheritedcancer.net/post102720/
Gene: ๐๐๐๐ Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐ช๐ผ๐บ๐ฒ๐ป: Breast cancer risk: Elevated at 85% – Recommend annual mammogram starting at age 30-35 (or 5-10 years before the earliest known breast cancer in the family); consider breast MRI with contrast starting at age 30-35; consider …
Permanent link to this article: https://inheritedcancer.net/post102320/
For more information, view the article available at: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djaa101/5885091
Permanent link to this article: https://inheritedcancer.net/post102020/
Gene: ๐๐๐ฑ๐ฏ Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: ๐ช๐ผ๐บ๐ฒ๐ป: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …
Permanent link to this article: https://inheritedcancer.net/post101620/
New guidelines for the use of PARP inhibitors to treat ovarian cancer among those with BRCA1 or BRCA2 mutations were published through the American Society of Clinical Oncology (ASCO) to guide providers about the role of this class of drugs in the management of this type of cancer. Link to the guidelines are available at: …
Permanent link to this article: https://inheritedcancer.net/post101320/
Gene: ๐พ๐๐๐2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: ๐ช๐ผ๐บ๐ฒ๐ป: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. ๐ ๐ฒ๐ป ๐ฎ๐ป๐ฑ ๐ช๐ผ๐บ๐ฒ๐ป: Colorectal Cancer Risk: Elevated …
Permanent link to this article: https://inheritedcancer.net/post100920/
Among BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that did not progress), compared to those treated with ONLY chemotherapy. To read the full article visit: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(20)30447-2/fulltext [This finding was previously outlined last year …
Permanent link to this article: https://inheritedcancer.net/post100620/
Gene: ๐ผ๐๐ Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) ๐ช๐ผ๐บ๐ฒ๐ป: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …
Permanent link to this article: https://inheritedcancer.net/post100220/
SJoin the Colon Cancer Coalition and AliveAndKickn for the Living with Lynch 2020 Virtual Patient Workshop on๐๐ฟ๐ถ๐ฑ๐ฎ๐, ๐ข๐ฐ๐๐ผ๐ฏ๐ฒ๐ฟ ๐ต๐๐ต ๐ณ๐ฟ๐ผ๐บ ๐ญ๐ฝ๐บ-๐ฑ๐ฝ๐บ ๐๐ง to hear unique patient perspectives and the latest information from experts on Lynch syndrome. Visit https://www.livingwithlynch.org/2020-living-with-lynch to register for this free workshop today!
Permanent link to this article: https://inheritedcancer.net/post92920/
The American Association for Cancer Research (AACR) published a Cancer Disparities Progress Report. “… our limited knowledge of cancer biology in racial and ethnic minorities, including their inherited cancer predisposition and the genomic underpinnings of cancer initiation and progression, diminishes the potential of precision medicine in these populations.” This report discusses relevant information about inherited …
Permanent link to this article: https://inheritedcancer.net/post92520/
For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01035
Permanent link to this article: https://inheritedcancer.net/post91820/
The ICARE Summer 2020 Newsletter is now available! Check out this latest edition for recent research and clinical updates as well as a Q&A with a nationally renowned clinical geneticist from Vanderbilt-Ingram Cancer Center. You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2020-Summer-Newsletter.pdf Please feel free to share with family members, friends, and/or your …
Permanent link to this article: https://inheritedcancer.net/post91620/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing criteria by cancer type as follows: Breast Cancer: Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Now having multiple breast cancer diagnoses is NOT dependent on whether the diagnoses were …
Permanent link to this article: https://inheritedcancer.net/post91520/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91420/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing choices and considerations as follows: Choice of multi-gene panel may be guided by genes included, analyses offered, and financial assistance programs available for family testing Significant limitations in interpretations of polygenic risk scores: NOT recommended for …
Permanent link to this article: https://inheritedcancer.net/post91120/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to breast cancer risk management recommendations by gene as follows: NBN – high-risk breast screening was removed as there is insufficient evidence to support high cancer risks BARD1 – added consideration for high-risk breast screening starting at age 40 …
Permanent link to this article: https://inheritedcancer.net/post91020/
Check out Vanderbilt’s article about genetic testing considerations at: https://discover.vumc.org/2020/02/genetic-testing-considerations-for-breast-cancer-patients/ Check out the original document from the American College of Medical Genetics and Genomics at: https://www.nature.com/articles/s41436-019-0712-x
Permanent link to this article: https://inheritedcancer.net/post90820/
The GREM1 gene leads to hereditary mixed polyposis syndrome, characterized by multiple polyps of mixed pathology and high risks for colorectal cancer. A specific duplication in the 5′ regulatory region of the GREM1 gene has been found in a subset of Ashkenazi Jewish individuals with hereditary mixed polyposis syndrome; therefore, GREM1 genetic testing is …
Permanent link to this article: https://inheritedcancer.net/post90420/
BRCA1 is not typically thought to be one of the genes which cause Fanconi anemia. However, rare cases of individuals with biallelic BRCA1 mutations (mutations in both copies of the gene) have been reported. One case involved a woman who had breast cancer at age 23, and was born with multiple birth defects consistent with …
Permanent link to this article: https://inheritedcancer.net/post90120/
Among 4,500 post-menopausal women with breast cancer, 3.55% had a mutation in a gene associated with inherited breast cancer (3-fold higher than what was seen among women who were cancer-free). BRCA1/2 mutations were seen more frequently in women diagnosed with breast cancer at or below age 65 (2.21%) compared to those diagnosed after age 65 …
Permanent link to this article: https://inheritedcancer.net/post82820/
More than 40% of patients with pheochromocytoma or paraganglioma, regardless of age and family history, carry an inherited gene mutation. Given that gene mutation carriers may benefit from gene-specific cancer screening, all individuals diagnosed with one of these tumors should seek genetic counseling to discuss genetic testing options. Genes that predispose to pheochromocytoma and paraganglioma …
Permanent link to this article: https://inheritedcancer.net/post82520/
Individuals with a CDH1 mutation and classic personal and family history of diffuse gastric (stomach) cancer have a very high risk of developing and dying from stomach cancer, if they do not have preventive surgery to remove their stomach. A simulation study to assess prophylactic total gastrectomy (PTG; the removal of the stomach to prevent …
Permanent link to this article: https://inheritedcancer.net/post82120/
A study of 159 women, including BRCA carriers, who had bilateral mastectomy with reconstruction, underwent breast MRI screening. The results showed few women had detection of breast cancer through MRI, after their bilateral mastectomy. These results support the recommendation against screening MRI in women who have had bilateral mastectomy with reconstruction due to a diagnosis …
Permanent link to this article: https://inheritedcancer.net/post81820/
Over 600,000 men age 40 and older who were part of a family with at least three consecutive generations affected with prostate cancer were studied from the Utah Population Database. Findings from this study showed that: 36,000 had prostate cancer (5.9%) 2,500 had early-onset disease (7%) 4,000 had lethal disease (11.1%) 15,000 had clinically significant …
Permanent link to this article: https://inheritedcancer.net/post81420/
We are here to help! Our followers asked us to provide information about screening resources for women with hereditary breast cancer. We would like to make folks aware about a CDC program that provides free breast cancer screening for women who are uninsured and underinsured. โฃโฃ โฃโฃ Check out more information at: https://www.cdc.gov/cancer/nbccedp/ โฃโฃ
Permanent link to this article: https://inheritedcancer.net/post81120/
Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2768011
Permanent link to this article: https://inheritedcancer.net/post80720/
A recently published study based on data from our participants showed that few young Black women with breast cancer see a genetic counselor AND those with insurance are LESS likely to see a genetic counselor. โฃโฃ โฃโฃ For more information, check out the full study at: https://www.nature.com/articles/s41436-020-0762-0
Permanent link to this article: https://inheritedcancer.net/post80420/
A recently published study based on data including our participants identified genes that predispose African American patients to breast cancer. For more information, check out the full study at: https://academic.oup.com/jnci/article/doi/10.1093/jnci/djaa040/5838706.
Permanent link to this article: https://inheritedcancer.net/post80320/
Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2767423
Permanent link to this article: https://inheritedcancer.net/post73120/
The National Comprehensive Cancer Network (NCCN) released new guidelines for 2020 on July 21, 2020. The big changes included refining some of the risks for genes involved in Lynch Syndrome, and providing specific guidance about cancer screening that may slightly differ by gene. You can check out the full guidelines by creating a FREE account …
Permanent link to this article: https://inheritedcancer.net/post72420/
[ngg src=”galleries” ids=”1″ display=”basic_slideshow” arrows=”1″ show_thumbnail_link=”0″]It is important to talk about racial inequalities in healthcare as it affects the care received among Black patients. Through our research efforts, we not only want to address the issue of racism but also think about ways to make healthcare more equitable. A recently published study including our research …
Permanent link to this article: https://inheritedcancer.net/post72120/
A study comparing women with two CHEK2 mutations to one CHEK2 mutation showed that those with two mutations were: -more likely to get breast cancer (80.6% versus 41.2%) -more likely to be diagnosed at or below age 50 (61.3% versus 23.9%) -more likely to have a second breast cancer diagnosis (22.6% versus 8.1%) These findings …
Permanent link to this article: https://inheritedcancer.net/post71720/
Individuals with a first-degree relative (for example, parent, sibling, or child) with blood cancer, such as lymphoma, have a higher chance of being diagnosed with blood-related cancer (i.e., hematologic malignancy), according to a recent study. The risk to develop certain blood cancers depends on how closely related the relative is (e.g., higher risks for first-degree …
Permanent link to this article: https://inheritedcancer.net/post71420/
BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …
Permanent link to this article: https://inheritedcancer.net/post71020/
Individuals with a family history of pancreatic cancer have a higher risk to develop pancreatic cancer. A recent study reported the following pancreatic cancer risks compared to the general population, based on relationship to an individual with pancreatic cancer: First-degree relative (e.g., parent, sibling, child) โ 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …
Permanent link to this article: https://inheritedcancer.net/post70720/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2016 ICARE Newsletter is Mari-Lynn Slayton, who was found to have a PALB2 mutation after two breast cancer diagnoses. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post70220/
On June 29, 2020, the FDA approved the use of Keytruda (pembrolizumab), as first-line treatment in unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) colorectal cancer. Among people with Lynch syndrome, the risk for colorectal cancer (which often has microsatellite instability and/or mismatch-repair deficiency) is raised. Keytruda (pembrolizumab) showed to double the progression-free …
Permanent link to this article: https://inheritedcancer.net/post63020/
Asian, Hispanic, and Black women with breast cancer had higher rates of variants of uncertain significance (VUS) on genetic test results for hereditary cancer genes compared to White women with breast cancer according to a recent study. Check out the full article at https://link.springer.com/article/10.1007%2Fs13187-019-01646-8
Permanent link to this article: https://inheritedcancer.net/post62620/
June is cancer survivor month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2019 ICARE Newsletter is Kelly Frank, who was found to have a BRIP1 mutation after an ovarian cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post62320/
In a study of 914 women with different breast cancer subtypes, overall pathologic complete response rates were: Higher in those with BRCA1/2 mutations (60.4% versus 46.7%) No differences were seen in those with mutations in other inherited cancer genes Among patients with triple-negative breast cancer, BRCA1/2 mutations had highest response rates to treatment in both …
Permanent link to this article: https://inheritedcancer.net/post61920/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Summer 2018 ICARE Newsletter is Patricia Blumenthal, who was found to have a BRCA2 mutation. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post61620/
Through a randomized phase 2 study (called the INFORM trial) among BRCA1/2 carriers with breast cancer, cisplatin was no better in inducing pathologic complete remission compared to AC. The pathologic complete remission rate was 18% for cisplatin and 26% for AC. Cisplatin is not better than other chemotherapy for induction therapy for breast cancers in …
Permanent link to this article: https://inheritedcancer.net/post61220/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Winter 2017 ICARE Newsletter is Christy Mattey, who was found to have a CHEK2 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60920/
In BRCA1/2 or PALB2 carriers with stage 3 or 4 pancreatic cancer, the combination of cisplatin + gemtricitabine with veliparib (a PARP inhibitor), did NOT seem to provide additional benefit over cisplatin + gemtricitabine alone. Through this phase 2 randomized control trial, response rates in both treatment arms were high with similar overall survival rates. …
Permanent link to this article: https://inheritedcancer.net/post60520/
June is Cancer Survivor Month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Summer 2017 ICARE Newsletter is Terry Arnold, who was found to have a BRCA1 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60220/
A new article was recently published based on data from BRCA1/2, PALB2, CHEK2, and ATM carriers in ICARE. Findings suggest potential overtreatment through risk-reducing surgery among women with pathogenic/likely pathogenic variants in breast cancer genes. This highlights the importance of promoting guideline-adherent, risk-appropriate care. Check out the full article at https://rdcu.be/b4mbg
Permanent link to this article: https://inheritedcancer.net/post52620/
On May 19, 2020 the FDA approved the use of olaparib (Lynparza) as treatment in BRCA and other gene carriers (homologous recombination repair genes) with metastatic castration-resistant prostate cancer who have been treated with enzalutamide or abiraterone. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer
Permanent link to this article: https://inheritedcancer.net/post52220/
On May 15, 2020 the FDA approved the use of rucaparib (Rubraca) as treatment in BRCA carriers with metastatic castration-resistant prostate cancer who have been treated with androgen receptor-directed therapy and a taxane-based chemotherapy. Link to full article: https://www.fda.gov/drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate
Permanent link to this article: https://inheritedcancer.net/post51920/
The National Comprehensive Cancer Network (NCCN) currently recommends an annual breast MRI and an annual mammography for high-risk women (lifetime breast cancer risk at or above 20%). Among women at high risk for breast cancer, MRI detected breast cancer at an earlier stage than mammograms. Women with BRCA1/2 and TP53 were NOT included in this …
Permanent link to this article: https://inheritedcancer.net/post51520/
On May 8, 2020 the FDA approved the use of olaparib (Lynparza) as first-line maintenance treatment in BRCA1/2 carriers (deleterious or suspected deleterious mutations) and/or a genomic instability, with advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary
Permanent link to this article: https://inheritedcancer.net/post51220/
In recognition of World Ovarian Cancer Day, we’d like to share some exciting results from a study of women with ovarian cancer and a BRCA mutation: In a recent phase III trial, olaparib (PARP inhibitor) showed improved response and progression-free survival compared with chemotherapy (without platinum) in BRCA carriers with platinum-sensitive relapsed ovarian cancer who …
Permanent link to this article: https://inheritedcancer.net/post50820/
Findings from a recent study showed that olaparib (PARP inhibitor) significantly improved progression-free survival in patients with BRCA1, BRCA2, or ATM genetic alterations. Benefits were also more broadly seen among patients with homologous recombination repair gene defects. Link to full article: https://www.nejm.org/doi/full/10.1056/NEJMoa1911440 Check out the ASCO post article at: https://www.ascopost.com/news/may-2020/olaparib-for-patients-with-mcrpc-and-homologous-recombination-repair-gene-alterations/
Permanent link to this article: https://inheritedcancer.net/post50620/
CDH1 mutation carriers are at higher risk for diffuse gastric cancer (men and women) and lobular breast cancer (women). Current strategies to manage high risks of gastric cancer include prophylactic gastrectomy (i.e., removal of the stomach), which can have severe physical and psychological implications. A recent study found that men have a higher risk of …
Permanent link to this article: https://inheritedcancer.net/post50520/
A study of 80 women identified 4 proteins in blood that may help to detect ovarian cancer early. Further research is still needed with larger groups of women to determine if this new blood test would be a reliable test to find ovarian cancer early. Check out the full article at https://www.nature.com/articles/s41416-019-0544-0
Permanent link to this article: https://inheritedcancer.net/post50120/
On April 29, 2020 the FDA approved the use of niraparib (Zeluja) as first-line maintenance treatment in BRCA1/2 carriers with advanced ovarian cancer! More details available at: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer
Permanent link to this article: https://inheritedcancer.net/post42920/
Gene: PALB2 Cancer Risks and Management (per NCCN version 1.2020): Women: Breast cancer risk: Elevated at 53% – Recommend annual breast MRI with contrast starting at age 30, and annual mammogram with consideration of tomosynthesis starting at age 30; Consider risk-reducing mastectomy. Ovarian cancer risk: Elevated at 5% – Manage based on family history. Men …
Permanent link to this article: https://inheritedcancer.net/post42820/
Gene: BRCA2 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …
Permanent link to this article: https://inheritedcancer.net/post42120/
The American Society of Clinical Oncology (ASCO) recently published a guideline reinforcing the longstanding recommendation that all women diagnosed with epithelial ovarian cancer (EOC) be offered genetic testing for hereditary ovarian cancer genes. Many of these women (>15%) have an inherited mutation, most commonly BRCA1 or BRCA2. Identifying BRCA1/2 mutations may help guide cancer treatment. …
Permanent link to this article: https://inheritedcancer.net/post41720/
Gene: BRCA1 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …
Permanent link to this article: https://inheritedcancer.net/post41420/
Results from a population-based study of over 20,000 women from SEER registries of Georgia and California diagnosed with stage 0 to stage III breast cancer between 2014 and 2016 tested for inherited breast cancer were recently published. Findings suggest that women who test positive for certain mutations receive certain patterns of treatment. These patterns of …
Permanent link to this article: https://inheritedcancer.net/post41020/
Gene: EPCAM Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …
Permanent link to this article: https://inheritedcancer.net/post4120/
Treatment-associated polyposis (TAP) should be considered in patients who develop many colon polyps after treatment for a childhood or young adulthood cancer but do not have an identified mutation in a hereditary cancer gene. A recent study reported that 35% of patients with TAP developed over 50 colorectal polyps, and 94% had multiple types of …
Permanent link to this article: https://inheritedcancer.net/post32720/
Gene: PMS2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy. Men and Women: Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25 Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at …
Permanent link to this article: https://inheritedcancer.net/post32420/
Women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended. A recently published study based on ICARE participants with ATM and CHEK2 mutations suggested that most female family members of ATM and CHEK2 mutation carriers do not …
Permanent link to this article: https://inheritedcancer.net/post32020/
Gene: MSH6 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy. Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations. Men and Women: Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25. Gastric cancer risk: 0%-5% – Consider upper …
Permanent link to this article: https://inheritedcancer.net/post31720/
A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someoneโs DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …
Permanent link to this article: https://inheritedcancer.net/post31320/
Gene: MSH2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …
Permanent link to this article: https://inheritedcancer.net/post31020/
New colon cancer and polyposis genes recently identified include NTHL1, POLE, POLD1, MSH3, and RNF43. Previous studies suggest these genes raise the risk for colon cancer and polyposis; however, recent data suggest that environmental factors may also play an important role in risk. Ultimately, these genes account for a very small fraction of polyposis cases. …
Permanent link to this article: https://inheritedcancer.net/post3620/
Gene: MLH1 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 43%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 5%-20% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Breast cancer risk: Elevated at 12%-17% – Manage same as general population. Men and Women: Colorectal cancer …
Permanent link to this article: https://inheritedcancer.net/post3320/
There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …
Permanent link to this article: https://inheritedcancer.net/post22620/
Individuals with Lynch syndrome have an increased risk of colorectal cancer (CRC) and other cancers. The level of CRC risk is different based on which gene they have a mutation in. Of note, MLH1 and MSH2 carriers have the highest risk of colorectal cancer, generally in the range of 43%-52% by age 70. A recent …
Permanent link to this article: https://inheritedcancer.net/post22020/
The risk of ovarian cancer is raised in women with BRCA1/2 mutations. Recent findings suggest that higher body mass index (BMI) may further raise the risk of ovarian cancer in premenopausal BRCA1/2 carriers. Note that all women with BRCA1/2 mutations are at high risk for ovarian cancer, and should follow current National Comprehensive Cancer Network …
Permanent link to this article: https://inheritedcancer.net/post21820/
BRCA1/2 have distinct characteristics and patterns of spread. A recent study evaluated the characteristics of BRCA1/2 carriers and found that 73% ofBRCA1-associated breast cancers were triple negative; and 72% of BRCA2-associated breast cancers were hormone receptor positive. There were also distinct pattern of spread of breast cancer, with BRCA1 carriers more likely to experience lung …
Permanent link to this article: https://inheritedcancer.net/post21320/
Based on studies that show benefits of estrogen and androgen blockers in reducing breast cancer risk in high-risk women, the United States Preventative Service Task Force (USPSTF) recommends that clinicians offer risk-reducing medications to women at increased risk for breast cancer; however, they recommend against routine use of these medications in average-risk women. Hormone receptor …
Permanent link to this article: https://inheritedcancer.net/post21120/
The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …
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The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …
Permanent link to this article: https://inheritedcancer.net/post2420/
A recent phase II study showed increased response to an immunotherapy drug (avelumab), in women with endometrial cancer with mismatch repair deficiency. Among women with Lynch Syndrome, the risk for endometrial cancer (which often has mismatch repair deficiency) is raised. This new study shows promising treatment options for women with endometrial cancer and Lynch syndrome …
Permanent link to this article: https://inheritedcancer.net/13020/
DUOX2 represents a newly identified gene that might predispose patients to thyroid cancer (specifically, โnon-medullaryโ thyroid cancer). The specific gene change (or โmutationโ) that leads to thyroid cancer predisposition is known as Y1203H Additional studies are needed to confirm this association. Check it out at ASCO Post: https://tinyurl.com/sw3ew63 ๐จ๐ซ you can access the article at …
Permanent link to this article: https://inheritedcancer.net/post12420/
About 10% of pancreatic cancers are thought to be the result of an inherited mutation. All of the genes that predispose patients to pancreatic cancers have not yet been discovered. Recently, a new gene known as RABL3 was linked to pancreatic cancer. This gene may increase the risk of hereditary pancreatic cancer. Additional studies are …
Permanent link to this article: https://inheritedcancer.net/post12120/
A new study of Polish BRCA1 carriers showed that screening through transvaginal ultrasound was not effective or reliable in detecting ovarian cancer early. Consequently, preventive oophorectomy remains the only proven method to lower ovarian cancer risks and increase survival. Check out the article at: https://www.ncbi.nlm.nih.gov/pubmed/31500890. Check out the NCCN ovarian cancer screening recommendations for BRCA1 …
Permanent link to this article: https://inheritedcancer.net/post11720/
Women of non-European ancestry diagnosed with ovarian cancer have lower rates of referral for genetic testing despite current national guidelines stating ALL women with ovarian cancer and/or a close-blood relative with ovarian cancer should be offered genetic counseling and testing. One study reported that only 1/3 of Black, Latina, and Asian women were referred for …
Permanent link to this article: https://inheritedcancer.net/post11620/
A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someoneโs DNA, in combination with clinical and family history of cancer. This unique type of score may be utilized to calculate the lifetime risk of breast cancer. Important facts about PRSโs: Different from BRCA1/2 testing, which look for changes in these specific genes Should …
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In a study of 5000 healthy female BRCA1/2 carriers (without a breast cancer diagnosis): BRCA1 carriers: after an average of over 10 years follow-up, survival was higher in those who had bilateral mastectomy (99.7%) compared to those who had breast screening through mammograms and breast MRIs (93%). BRCA2 carriers: no significant differences were seen between …
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Happy New Year! 2020 represents a decade for ICARE We are celebrating 10 years of research, education, and engagement, through which we have enrolled nearly 3500 participants, including over 2000 gene mutation carriers, disseminated 15 newsletters, led and collaborated on multiple research projects, and impacted individuals affected by inherited cancer predisposition all over the …
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The FDA approved the use of olaparib, a PARP inhibitor, as first-line maintenance treatment in BRCA1/2 carriers with metastatic, platinum-sensitive, pancreatic cancer. Platinum-sensitive cancer is a cancer that responds to treatment with drugs that contain the metal platinum, such as carboplatin or cisplatin. Olaparib showed to nearly double the progression-free survival in BRCA1/2 carriers with …
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The FDA granted breakthrough therapy designation to niraparib (a PARP inhibitor) for the treatment of men with BRCA1/2 positive, metastatic castration-resistant, and heavily pre-treated prostate cancer. Results from a recent study show a 63% complete response rate in men with BRCA1/2 positive, metastatic castration-resistant prostate cancer treated with niraparib compared to 17% in the non- …
Permanent link to this article: https://inheritedcancer.net/post122019/
A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …
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The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: โIs there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?โ The document discusses: 1) Current data to support testing in breast cancer patients …
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Did you know? PROs are impacting treatment advances in metastatic breast cancer. Olaparib increased progression-free survival among BRCA carriers with metastatic HER2- breast cancer. Thanks to patient reported outcomes, a new study now suggests it also improved patientsโ quality of life! Check it out the new article published in October 2019 directly at https://www.ncbi.nlm.nih.gov/pubmed/31446213!
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We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …
Permanent link to this article: https://inheritedcancer.net/post12419/
The National Quality Forum defines patient reported outcomes (PROs) as โany report of the status of a patientโs health condition that comes directly from the patient.โ PROs have the potential to increase overall outcomes and care process and enhance patient and family centered care.
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The differences seen in access to healthcare across different racial groups are known as health disparities. To address the gap in awareness, we have pursued efforts to raise awareness about inherited breast cancer among African Americans. We are excited to introduce you to another invaluable resource, the Breast Cancer Genetics Research and Education for African American …
Permanent link to this article: https://inheritedcancer.net/post11119/
Did you know? National practice guidelines currently recommend ALL women with metastatic (HER2-) breast cancer to get genetic testing for inherited cancer (including BRCA1/2 testing), because it can guide eligibility for treatment with PARP inhibitors. A new study led by our colleague at the Vanderbilt-Ingram Cancer Center, Dr. Ben Park, suggests that more women with …
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Body mass index (BMI) is an indicator of fat content in the body. A lower body mass index may reduce breast cancer risk in women, including those with a family history of breast cancer. However, a new study reported that higher BMI also increases breast cancer risk in the general population and those with a …
Permanent link to this article: https://inheritedcancer.net/post102919/
BRCA1/2 carriers may benefit from physical activity to reduce breast cancer risks, just like women in the general population! We know that women in the general population benefit from physical activity to reduce their breast cancer risk, but a recent study showed that this benefit also extends to those with a BRCA1/2 mutation and those with …
Permanent link to this article: https://inheritedcancer.net/post102819/
Did you know? Although BRCA testing has been around for over TWO decades, not all populations have benefitted equally from testing. In fact, our previous research has shown that black patients are less aware of BUT interested in genetic testingโฆwhen they know about it. In addition, healthcare providers are less likely to identify and suggest …
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Latina women are at risk for inherited breast cancer: Breast cancer mortality rates are higher among Latina women compared to non-Hispanic White women. Latina women also have a higher prevalence of triple-negative breast cancer when compared to with non-Hispanic White women. Latina women are diagnosed with breast cancer at earlier ages, 56 years versus 63 …
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Monotherapy with PARP inhibitors is FDA-approved for patients with metastatic breast cancer with BRCA mutations. BUT, does adding additional drugs (called โcombination therapyโ) help? In BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that …
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New benefits from a PARP inhibitor, talazoparib, among BRCA carriers with early stage breast cancer. The current FDA approvals for the use of PARP inhibitors is limited to women with metastatic (stage IV) breast cancer. These drugs are being tested in early stage breast cancer to shrink down the tumor (called neoadjuvant treatment) before surgery …
Permanent link to this article: https://inheritedcancer.net/post101519/
Did you know? Beyonceโs father, Matthew Knowles, was diagnosed with breast cancer. He states, โwe used to think this was only an issue for women, but this is male or female.โ According to CBS news, โhe is hoping that sharing his story as man with breast cancer will shine a light on the risk men …
Permanent link to this article: https://inheritedcancer.net/post10619/
With the tremendous advances in gene-based care among those with inherited cancer risk, we are trying to develop tools and strategies to make it easier for more people to benefit from genetic education and testing. We are proud to introduce you to GeneSHARE, a free online toolkit for YOU, to help share positive test results …
Permanent link to this article: https://inheritedcancer.net/post91319/
