A new study among patients with renal cell carcinoma reported a higher chance of finding a mutation in an inherited cancer-related gene in those with: Read the full article to learn more at:https://pubmed.ncbi.nlm.nih.gov/38127826/ Reference: Nguyen, et al. JCO Precis Oncol. 2023;7: e2300168. PMID: 38127826.
Permanent link to this article: https://inheritedcancer.net/post111424/
Check out our recently published study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) pathogenic variants, which impart LOWER breast cancer risks than ‘typical’ BRCA mutations. Specifically, lifetime breast cancer risks for these reduced penetrance BRCA variants are 20-30% which is similar to that seen in moderate penetrance breast cancer genes (e.g., CHEK2 …
Permanent link to this article: https://inheritedcancer.net/post111124/
A recent study among women with early-stage breast cancer revealed that many female cancer survivors who meet guidelines for genetic counseling and testing for inherited cancer do not receive it. These findings underscore the need for better access to genetic counseling and testing to support patients and their families. Learn more at: https://bit.ly/3MkeM2o Reference: Katz, …
Permanent link to this article: https://inheritedcancer.net/post102324/
Are you or someone you love affected by a BRCA gene mutation 🧬 ? This event is for you! On November 5th, Women’s College Hospital will be hosting a hybrid event entitled, BRCA: 30 Years, Discovery to Impact, to celebrate 30 years since the groundbreaking discovery of the BRCA1 and BRCA2 genes. Learn from leading …
Permanent link to this article: https://inheritedcancer.net/post101724/
Oct 15
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. In these updated guidelines, NCCN added the following to testing being considered ⤸Personal history of colorectal or endometrial cancer at or older than age 50, and: You can check out the full guidelines …
Permanent link to this article: https://inheritedcancer.net/post101524/
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. Updates include ⤸ Added the following to testing being considered: Personal history of colorectal or endometrial cancer at or older than age 50, and: Revised information about EPCAM gene (which has usually been …
Permanent link to this article: https://inheritedcancer.net/post100824/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these updated guidelines, NCCN indicates testing criteria for high-penetrance breast cancer susceptibility genes should be considered for those with a personal history of breast cancer ≤ age 65 (used to be < age …
Permanent link to this article: https://inheritedcancer.net/post100824_1/
Did you know that men can get breast cancer too? In fact, Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer in October 2019 and was found to have a BRCA2 mutation. Matthew’s children have a 50/50 chance of inheriting his BRCA2 mutation. Men with an inherited BRCA2 mutation are at an increased risk for …
Permanent link to this article: https://inheritedcancer.net/post100724/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these updates, NCCN clarified that it is appropriate to test unaffected (not best testable) family members when they meet testing criteria. To read more, you can check out the full guidelines by creating …
Permanent link to this article: https://inheritedcancer.net/100424_1/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these updated guidelines, the minimal components that should be discussed during point-of-care testing are outlined (found in EVAL-A 10 of 11; Page 17). To read more, you can check out the full guidelines …
Permanent link to this article: https://inheritedcancer.net/post100324/
By Marleah Dean Kruzel, PhD, BRCA2 Previvor When I was eight years old, my mother found a lump in her breast – barely noticeable. For a few years, I watched her undergo chemotherapy, radiation, and a prophylactic mastectomy and reconstruction. Since then, my maternal aunt and grandmother also fought breast cancer, and we learned my …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-community-spotlight-the-patient-and-the-researcher-shares-her-uncertain-future-and-lessons-shes-learned/
What elements are most important in the collection of family history? When and how to use multigene panel testing when indicated? Which genes should be tested based on cancer type? Among patients with tumor testing, who should be offered germline testing? For a full list of recommendations in this guideline, the article is available at: …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-american-society-of-clinical-oncology-asco-guideline-update-selecting-genetic-tests-in-patients-with-various-cancers/
A recent study reported that pregnancy after breast cancer was safe for both mother and baby.1 Specifically, the researchers found that pregnancy after breast cancer was not associated with adverse maternal prognosis or fetal outcomes. Another study reported that breast cancer after pregnancy could be associated with poorer outcomes. Specifically, breast cancer diagnosed within 10 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-and-pregnancy-related-ris/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released September 11th, 2024 (V1.2025) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Testing Updates: Gene Updates: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Cancer – Released August 8th, 2024 (V1.2024) Check out the full guidelines by creating a FREE account at …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
A new study found that men with a BRCA2 mutation and metastatic hormone-sensitive prostate cancer face poorer outcomes. BRCA2 carriers were also found to have a higher risk of progression to castration-resistant prostate cancer. These findings highlight the importance of evaluating germline mutations among prostate cancer patients. Learn more by reading the full article at: …
Permanent link to this article: https://inheritedcancer.net/post93024/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some updates include ⤸ To read more, 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/post91224/
Below is a featured video from the July 2024 patient forum, during which patients had the opportunity to ask questions and discuss how to manage emotional distress and communicate with family about inherited cancer predisposition with our expert panelists.
Permanent link to this article: https://inheritedcancer.net/video70924/
In a study of a rare type of pancreatic cancer, called pancreatic acinar cell cancer (PACC), over one third (36.7%) of a total of 49 patients with PACC had a mutation in an inherited cancer gene. The most commonly mutated gene was BRCA2 (12), and other genes included BRCA1 (1), PALB2 (2), ATM (2), and …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-inherited-risk-in-patients-with-pancreatic-acinar-cell-carcinoma/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-new-guidelines-released-through-asco-society-of-oncology-germline-testing-in-patients-with-breast-center/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released February 12th, 2024 (V3.2024) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Contralateral breast cancer risks in these updated guidelines: Expanded guidance about gynecologic cancers in BRCA1/2 carriers: Some highlights related to HRT include: Genetic/Familial High-Risk Assessment: Colorectal Cancer – Released …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
Want to learn more about genetic testing for inherited cancer? We use patient stories to give information about testing, its possible value to individuals and their family, and ways to access resources to learn more about getting tested. Check out the video here: http://tinyurl.com/genetictestingvideo To get free personalized information about hereditary cancer risk and testing, …
Permanent link to this article: https://inheritedcancer.net/post11724/
Below is a featured video from the January 2024 case conference, during which Katie Lang, MS, CGC discusses transplant eligibility in the context of inherited cancer genetic test results.
Permanent link to this article: https://inheritedcancer.net/video11224/
The American Society of Clinical Oncology (ASCO) just released new guidelines for germline testing in patients with breast cancer, which include the following:🧬 BRCA1/2 testing should be offered to ALL patients diagnosed with breast cancer at or below age 65🧬 Testing for other hereditary cancer genes should also be offered based on personal and family …
Permanent link to this article: https://inheritedcancer.net/post10524/
Nov 01
Language barriers should never prevent people from accessing essential information in the field of healthcare. To fill the gap caused by the lack of Spanish-speaking genetic counselors, our team developed a web-based genetic education tool 🧬 A study among 41 Spanish-speaking found that viewing the tool significantly increased knowledge and feeling informed and empowered to …
Permanent link to this article: https://inheritedcancer.net/post110123/
Nov 01
Las barreras del idioma nunca deberían impedir que las personas accedan a información esencial en el campo de la atención de salud. Para llenar el vacío causado por la falta de asesores genéticos que hablan español, nuestro equipo desarrolló una herramienta de educación genética basada en la web. Un estudio entre 41 hispanohablantes encontró que …
Permanent link to this article: https://inheritedcancer.net/post110123_1/
Permanent link to this article: https://inheritedcancer.net/post102923/
Triple-negative breast cancers, which do not have estrogen, progesterone, or HER2 receptors, can be more serious and difficult to treat. Inherited breast cancer gene mutations, like BRCA1/2, are more common among this type of breast cancer – which is why it is important for those with triple-negative breast cancer to consider getting genetic testing that …
Permanent link to this article: https://inheritedcancer.net/post102223/
My paternal grandparents were my heroes. Wise beyond their time, they relished teaching our familythat knowledge is power, health is everything, and love is unconditional. Back then, Prevention healthmagazine and vitamin supplements filled their mailbox and 1960’s exercise guru Jack LaLane, and health foodadvocate Euell Gibbons, beckoned new followers from a talking picture box in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-community-spotlight/
This question was addressed by Kelly Taylor, MS, LCGC, a licensed and certified genetic counselor with expertise inresearch genetics and hereditary cancers at the Vanderbilt Hereditary Cancer Clinic. If you have a question you wouldlike addressed, please email the ICARE team at ICARE@vumc.org for consideration in future newsletters. Q: I have Lynch Syndrome and an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-ask-the-expert/
Through consensus, management recommendations were developed in the UK for females with pathogenic variants in the following inherited ovarian cancer genes: Learn more at the link in bio! Reference: Hanson H, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032.
Permanent link to this article: https://inheritedcancer.net/post81823/
Recent study findings suggest that BRCA1/2, PALB2, ATM, CHEK2, and the Lynch Syndrome genes might confer reduced penetrance cancer risk among children. However, there are no adjustments to management or testing recommendations based on the level of risk (i.e., normally do not test children for conditions that primarily increase the risk of cancer in adulthood). …
Permanent link to this article: https://inheritedcancer.net/post72123/
The National Comprehensive Cancer Network (NCCN) just released updated colorectal cancer guidelines which includes: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
Permanent link to this article: https://inheritedcancer.net/post60823/
Among patients with multiple primary cancers, the proportion with inherited cancer gene mutations increased with the number of primary cancers:• 2 cancers: 13.1%• 3 cancers: 15.9%• 4+ cancers: 18.0% Many of the double primaries, such as those of the breast, ovary, colorectum, and endometrium, occurred in women who would already be eligible for genetic testing. …
Permanent link to this article: https://inheritedcancer.net/post60723/
According to a recent study, while there was a reported 2-fold risk for breast cancer overall among ATM carriers, those with the c.7271T>G mutation had the highest risk. Use the link to learn more: https://bit.ly/40bKovj Reference: Hall et al. Cancer Prev Res (Phila). 2021;14(4):433-440. PMID: 33509806.
Permanent link to this article: https://inheritedcancer.net/post51123/
Below you may watch a featured video from the April 2023 Genetics Case Conference, which focused on tumor testing and germline significance with guest expert Ben Ho Park, MD, PhD from Vanderbilt University Medical Center.
Permanent link to this article: https://inheritedcancer.net/video41323/
A new study 𝗯𝘆 𝗼𝘂𝗿 𝘁𝗲𝗮𝗺 used the Framework for Developing and Evaluating Complex Interventions (FDECI) to evaluate an intervention to improve family communication of positive genetic test results for inherited cancer. The first FDECI phases were beneficial for improving the intervention and planning for continual effectiveness and future implementation phases. Use the link in …
Permanent link to this article: https://inheritedcancer.net/post41023/
In 1997 when I was a junior in college, my mom called to let me know that my father had been diagnosed with prostate cancer. Luckily for him, Prostate Specific Antigen (PSA) testing had recently started which resulted in early detection and subsequent prostatectomy. Due to his diagnosis and knowing prostate cancer is an inherited …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023span-stylecolor-56b0e4community-spotlight/
A study of 381 individuals with Lynch Syndrome in New Zealand (98 with Lynch Syndrome-associated variants in MLH1, 159 in MSH2, 103 in MSH6, and 21 in PMS2) found that risks for colorectal cancer were lower in MSH6 and PMS2 carriers, suggesting that it might be possible to spread out colonoscopy intervals for these individuals.1 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023/
Below you may watch an exciting presentation about communicating about inherited cancer risk, uncertainty, and decision making by Marleah Dean Kruzel, PhD from the University of South Florida.
Permanent link to this article: https://inheritedcancer.net/video40423/
Because of the high frequency of mutations found in individuals with pheochromocytoma and paraganglioma, these individuals are advised to consider genetic testing for inherited cancer.Use this link to learn more: https://pubmed.ncbi.nlm.nih.gov/35976622/ Reference: Yip, et al. JAMA Surg. 2022;157 (10):870-877. PMID: 35976622
Permanent link to this article: https://inheritedcancer.net/post32223/
Findings from a recent study: Risk factors for metachronous colorectal cancer included a history of colorectal polyps and having an MLH1 or MSH2 mutation, while protective factors included female sex and extended surgical resection. This highlights the importance of genetic testing and counseling for Lynch syndrome prior to surgery, which can influence surgical strategy and …
Permanent link to this article: https://inheritedcancer.net/post31923/
A new study shows germline MBD4 mutations cause an autosomal recessive tumor predisposing syndrome associated with: This highlights the importance of including MBD4 in genetic testing for polyposis and multi-tumor phenotypes to improve disease management. Use the link in bio to learn more! Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.
Permanent link to this article: https://inheritedcancer.net/post31223/
Why have genetic testing? Genetic testing for inherited cancer can help guide care, including:• Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiation• Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.
Permanent link to this article: https://inheritedcancer.net/post22423/
On February 16th, 2022, the Reducing Hereditary Cancer Act (S.3656) was introduced to the U.S. Senate with the goal of ensuring Medicare beneficiaries have coverage for potentially life-saving inherited cancer genetic counseling and testing as well as recommended screening and risk-reducing procedures, when medically necessary and appropriate. Currently, Medicare only covers genetic testing for beneficiaries …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-reducing-hereditary-cancer-act-of-2021/
Genetic testing sounded like a futuristic concept when it originally came to our attention. It sounded something to the likes of cloning. We didn’t really understand what it was and why it was important, but rather thought it sounded like something out of science fiction. Thankfully, our medical providers and genetic counselors stuck with us …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-community-spotlight/
When I was just 8 years old my mother was diagnosed with a very aggressive breast cancer. I didn’t reallyunderstand the concept of cancer at that age, but I knew what was happening was terrible. After manysurgeries and treatments, she passed away 2 years later at the age of 35. There was no hereditary cancertesting …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-community-spotlight/
Researchers reported that single nucleotide polymorphism (SNP) tests, which are used by DTC tests such as 23andMe, are not reliable in identifying the majority of BRCA1/2 mutations or other inherited cancer gene mutations. The SNP test used by many DTC ancestry and DNA companies is designed to detect common traits many people share. However, when …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-direct-to-consumer-tests-not-reliable-to-detect-brca1-2-mutations/
Under current Medicare guidelines, only those with “signs, symptoms, complaints, or personal histories of disease” meet the criteria for medical services coverage. Thus, genetic testing is only covered for those already diagnosed with cancer, regardless of family history. If someone without cancer has an inherited mutation that increases cancer risk (e.g., BRCA1/2), Medicare may not …
Permanent link to this article: https://inheritedcancer.net/div-classboxedspan-stylecolor-whiteh6icare-newsletter-fall-2021-h6-span-divbrcenterh4span-stylecolor-56b0e4-reducing-heredit/
At the age of 51, my first and only colonoscopy revealed 100 polyps in my colon, rectum, and anuseven though I had no symptoms or family history. I was immediately referred to a Certified GeneticCounselor at Tripler Army Medical Center in Hawai’i. Germline DNA testing revealed I had attenuatedfamilial adenomatous polyposis (AFAP), due to an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-community-spotlight/
Breast, Ovarian, and Pancreatic Guidelines V.1.2022: Released August 11th, 2021 Colorectal Cancer Guidelines V.1.2021: Released May 11th, 2021 Check out the full NCCN guidelines by creating a FREE account at www.nccn.org
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-updates-to-nccn-genetic-familial-high-risk-assessment/
A new study demonstrates the importance of retesting patients with previously uninformative cancer genetics evaluations, especially in high risk individuals. Read the full article at this link for more info: https://pubmed.ncbi.nlm.nih.gov/34545504/ 🔗 Reference: Dettwyler et al. Fam Cancer. 2022; DOI: 10.1007/s10689-021-00276-8. PMID: 34545504
Permanent link to this article: https://inheritedcancer.net/post121322/
Have you already had genetic testing for inherited cancer and want to get more education and information about what your results mean for you? We provide free education about inherited cancer risk through our Tool for Inherited Cancer Predisposition Counseling and Testing Study (TIPS). Visit https://redcap.link/TIPS and complete our survey. Once completed, we provide:• an …
Permanent link to this article: https://inheritedcancer.net/post102422/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, genetic testing eligibility based on age at breast cancer diagnosis in females was updated from ≤ 45 to ≤ 50 making more females with breast cancer eligible for testing regardless of family history …
Permanent link to this article: https://inheritedcancer.net/post101022/
Below you may watch a featured video from the June 2022 Genetics Case Conference focused on updates on BRCA1 variants of uncertain significance with guest expert Alvaro Monteiro, PhD.
Permanent link to this article: https://inheritedcancer.net/video60222/
Below you may watch a featured video from the May 2022 Genetics Case Conference focused on CanVar with guest expert Clare Turnbull, MD, PhD.
Permanent link to this article: https://inheritedcancer.net/video51222/
Below you may watch an exciting presentation by Jeffrey Weitzel, MD, in which he discusses global implementation of genomic cancer risk assessment.
Permanent link to this article: https://inheritedcancer.net/video50322/
Komen Scholar, ICARE Founder and Clinical Geneticist, Dr. Tuya Pal, was recently interviewed for the Komen Blog. In the interview, Dr. Pal discusses the importance of making genetic counseling and testing more accessible in order to help populations who are at high risk for inherited cancer make more informed decisions about their medical care.Read the …
Permanent link to this article: https://inheritedcancer.net/post30922/
A recent study found that only about 33% of women with ovarian cancer undergo germline BRCA1/2 testing, despite universal recommendations for such patients to have germline genetic testing. Check out the article for more information!https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2787937?resultClick=3Reference: Cham et al. JAMA Netw Open. 2022 Jan 4;5(1):e2142703. PMID: 35015069.
Permanent link to this article: https://inheritedcancer.net/post22122/
A recent article by Drs. Sonya Reid, Tuya Pal, and Lucy Spalluto, and Katie Lang, MS, CGC and Anne Weidner, MPH of the ICARE team, has just been published with @SpringerNature in 𝘉𝘳𝘦𝘢𝘴𝘵 𝘊𝘢𝘯𝘤𝘦𝘳 𝘙𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵. This article outlines the importance of genetic services and follow-up care for hereditary breast cancer, as well as …
Permanent link to this article: https://inheritedcancer.net/post12622/
Below you may watch a featured video from the January 2022 Genetics Case Conference, in which Estie Rose, MS, LCGC presented on JScreen, a non-profit offering genetic testing and education.
Permanent link to this article: https://inheritedcancer.net/video11322/
• Several variants were identified multiple times in those who did and did not meet Li-Fraumeni Syndrome clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282• Other variants were exclusively found in those in the Li-Fraumeni Syndrome group: p.M133T, p.P152L, p.C275Y, p.C275, p.R337C, p.R342, and p.R342P• One variant was exclusively found in patients with attenuated Li-Fraumeni …
Permanent link to this article: https://inheritedcancer.net/post122121/
Below you may watch a featured video from the October 2021 Genetics Case Conference, which focused on SMARCA4 with guest expert William Foulkes, MBBS, PhD from McGill University.
Permanent link to this article: https://inheritedcancer.net/video100721/
Check out the full 𝘜𝘚𝘈 𝘛𝘰𝘥𝘢𝘺 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/
Below you may watch an exciting presentation about germline and tumor testing for ovarian cancer by Leigha-Senter Jamieson, MS, CGC from The Ohio State University, in which she considers how the role of genetic counselors may expand to support patients in partnership with treating gynecologic oncologists.
Permanent link to this article: https://inheritedcancer.net/video90821/
A New York Times article just published focused on the importance of PALB2 as a breast cancer gene (https://www.nytimes.com/…/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, view the article at: https://ascopubs.org/doi/10.1200/PO.20.00525
Permanent link to this article: https://inheritedcancer.net/post72721/
Below you may watch a featured video from the June 2021 Genetics Case Conference, which focused on PALB2 with guest experts Marc Tischkowitz, MD, PhD from the University of Cambridge in Cambridge, England and Steven Narod, MD, FRCPC, FRSC from the Women’s College Research Institute in Toronto, Canada.
Permanent link to this article: https://inheritedcancer.net/video61021/
For more information, view the article at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2776805
Permanent link to this article: https://inheritedcancer.net/post61521/
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 (𝘗𝘈𝘓𝘉2, 𝘔𝘈𝘟, and 𝘛𝘔𝘌𝘔127) 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 additional information, view the BMJ article available at: 👉 https://www.bmj.com/content/372/bmj.n214
Permanent link to this article: https://inheritedcancer.net/post50321/
The 𝙍𝙚𝙙𝙪𝙘𝙞𝙣𝙜 𝙃𝙚𝙧𝙚𝙙𝙞𝙩𝙖𝙧𝙮 𝘾𝙖𝙣𝙘𝙚𝙧 𝘼𝙘𝙩 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/
Below you may watch a featured video from the April 2021 Genetics Case Conference, which focused on multiple primary tumors with guest expert James Whitworth, MD, PhD from the University of Cambridge.
Permanent link to this article: https://inheritedcancer.net/video40921/
Below you may watch a featured video from the February 2021 Genetics Case Conference, which focused on DICER1 with guest expert Douglas Stewart, MD from the National Cancer Institute.
Permanent link to this article: https://inheritedcancer.net/video21121/
Permanent link to this article: https://inheritedcancer.net/1nlw2021/
It has never been more urgent to ensure that advances in genomic technologies do not further widen existing cancer health disparities. In the fall of 2020, the American Association for Cancer Research (AACR) put forth a report focused on cancer health disparities, in which they highlighted several issues.1 Notably, disparities in inherited cancer care were …
Permanent link to this article: https://inheritedcancer.net/5nlw2021/
The benefits achieved through genetic testing for inherited cancer only happen by acting upon the results. This can be through guiding cancer treatment, receiving appropriate cancer risk management strategies, and sharing results with at-risk family members so they too can benefit from this information. We recently reported on results of our study, made possible through …
Permanent link to this article: https://inheritedcancer.net/6nlw2021/
In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Rebecca Smith, PhD, Laboratory Director at Genetics Associates, Inc. with over 20 years of experience in biomedical research and 7 years of experience in clinical laboratory diagnostics. If you have a question …
Permanent link to this article: https://inheritedcancer.net/9nlw2021/
Check out a recent review article led by the ICARE team, published in 𝘌𝘹𝘱𝘦𝘳𝘵 𝘙𝘦𝘷𝘪𝘦𝘸 𝘰𝘧 𝘔𝘰𝘭𝘦𝘤𝘶𝘭𝘢𝘳 𝘋𝘪𝘢𝘨𝘯𝘰𝘴𝘵𝘪𝘤𝘴, 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/
Below you may watch a featured video from the January 2021 Genetics Case Conference, which focused on tumor testing/germline significance with guest expert Ben Ho Park, MD, PhD from Vanderbilt University Medical Center.
Permanent link to this article: https://inheritedcancer.net/video11421/
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/
Abstract To address the increasing demand for inherited cancer genetic testing, we developed and evaluated a web-based educational tool to streamline genetic counseling (GC). Consented patients viewed the initial prototype containing core content (Version 1-Core) and provided feedback through three open-ended survey questions. Additional data were collected through individual interviews from a subgroup who viewed …
Permanent link to this article: https://inheritedcancer.net/pub10521_2/
Abstract Objective: This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM). Methods: Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in a BRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers …
Permanent link to this article: https://inheritedcancer.net/pub10521/
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 𝘽𝙍𝘾𝘼1 or 𝘽𝙍𝘾𝘼2. 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 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/
The B-GREAT 2020 Newsletter is now available! Check out this latest edition for research updates and information about racial inequalities in healthcare. You can read the newsletter by visiting: https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-Newsletter-2020.pdf. Please feel free to share with family members, friends, and/or your healthcare providers. We will be publishing these newsletters twice a year starting in 2021. …
Permanent link to this article: https://inheritedcancer.net/post111020/
Abstract Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons …
Permanent link to this article: https://inheritedcancer.net/pub111020/
This study highlights disparities among ovarian cancer patients. For further information, view the article at: https://pubmed.ncbi.nlm.nih.gov/30964716/
Permanent link to this article: https://inheritedcancer.net/post110320/
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/
No abstract available Reid S, et al. Strategies to enhance identification of hereditary breast cancer gene carriers. Expert Rev Mol Diagn. 2020 Sep; 20(9):861-865. Epub 2020 Sep 11. PMID: 32856489.
Permanent link to this article: https://inheritedcancer.net/pub91120/
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/
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/
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/
In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the …
Permanent link to this article: https://inheritedcancer.net/6nls2020/
We have known for a while that many people who have mutations in BRCA1/2 and other inherited cancer risk genes are unaware of their mutation as they have not yet had genetic testing. A recent study among women aged 20 or older living in California and Georgia, which included almost 80,000 breast cancer patients and …
Permanent link to this article: https://inheritedcancer.net/4nls2020/
Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …
Permanent link to this article: https://inheritedcancer.net/3nls2020/
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. 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/
[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/
Below you may watch a featured video from the July 2020 Genetics Case Conference, which focused on BAP1 with guest expert Dr. Mohamed Abdel-Rahman from The Ohio State University. To learn more about the BAP1 study, please click here. To refer your patients to the BAP1 study, please contact The Ohio State University BAP1 …
Permanent link to this article: https://inheritedcancer.net/video70920/
Abstract With technological advances, multi-gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence-based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information …
Permanent link to this article: https://inheritedcancer.net/pub70820/
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) – 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …
Permanent link to this article: https://inheritedcancer.net/post70720/
Abstract Background: Increasing demand for genetic testing for inherited cancer risk coupled with a shortage of providers trained in genetics highlight the potential for automated tools embedded in the clinic process to meet this demand. We developed and tested a scalable, easy-to-use, 12-minute web-based educational tool that included standard pretest genetic counseling elements related to …
Permanent link to this article: https://inheritedcancer.net/pub70120/
Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.
Permanent link to this article: https://inheritedcancer.net/video51420/
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/
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/
Through each newsletter, we give our participants an opportunity to have their questions answered by experts. If you have a question you would like addressed, please email the study team at ICARE@InheritedCancer.net for consideration in future newsletters. The following question was addressed by Ben Ho Park, MD, PhD, who is the Donna S. Hall Chair …
Permanent link to this article: https://inheritedcancer.net/8nlw2020/
Abstract Purpose: All women diagnosed with breast cancer (BC) ≤age 50 should be referred for genetic counseling (GC) and testing. We sought to compare differences in provider practices and access across a racially and ethnically diverse population of young BC survivors. Methods: A registry-based sample of women diagnosed with invasive BC ≤age 50 from 2009 to 2012 …
Permanent link to this article: https://inheritedcancer.net/pub21820/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/post1920/
Abstract Despite higher incidence and mortality of breast cancer among younger Black women, genetic testing outcomes remain severely understudied among Blacks. Past research on disclosure of genetic testing results to family members has disproportionately focused on White, educated, high socioeconomic status women. This study addresses this gap in knowledge by assessing (a) to whom Black …
Permanent link to this article: https://inheritedcancer.net/pub10720/
The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: “Is there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?” The document discusses: 1) Current data to support testing in breast cancer patients …
Permanent link to this article: https://inheritedcancer.net/post121319/
No abstract available Pal T, et al. Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Apr;22(4):681-685. Epub 2019 Dec 13. PMID: 33455826.
Permanent link to this article: https://inheritedcancer.net/pub121319/
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 …
Permanent link to this article: https://inheritedcancer.net/post110719/
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 testing…when they know about it. In addition, healthcare providers are less likely to identify and suggest …
Permanent link to this article: https://inheritedcancer.net/post102419/
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 …
Permanent link to this article: https://inheritedcancer.net/post102319/
Did you know? Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer. He states, “we used to think this was only an issue for women, but this is male or female.” According to CBS news, “he 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/
Abstract Objective: Breast cancer (BC) survivors with a genetic mutation are at higher risk for subsequent cancer; knowing genetic risk status could help survivors make decisions about follow-up screening. Uptake of genetic counseling and testing (GC/GT) to determine BRCA status is low among high risk BC survivors. This study assessed feasibility, acceptability, and preliminary efficacy of …
Permanent link to this article: https://inheritedcancer.net/pub41119-2/
Abstract Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors. Materials and methods: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire. …
Permanent link to this article: https://inheritedcancer.net/pub12419/
