In honor of Breast Cancer Awareness month, we wanted to spread awareness about inherited breast cancer risks among men. Did you know that men with a BRCA2 mutation have about a 7% lifetime risk of breast cancer and those with a BRCA1 or PALB2 mutation have about a 1% lifetime risk of breast cancer? Thus, …
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If you have a history of breast cancer and a mutation in the PALB2 gene, you may be eligible to contribute to tumor genomics studies to help better understand inherited breast cancer in PALB2 carriers. Through the Inherited Cancer Registry (ICARE), we are studying: With your help, we hope that one day our research may …
Permanent link to this article: https://inheritedcancer.net/post71124/
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/
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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/
The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on February 12th, 2024! Updates include adding contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and other genes to the GENE-A (Cancer Risk Management) table 🧬 You can check out the full guidelines by creating a FREE account …
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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/
Through consensus, management recommendations were developed in the UK for females with pathogenic variants inthe following inherited ovarian cancer genes: RAD51C, RAD51D, BRIP1, and PALB2. Hanson, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032. Social media post September 26th, 2023.Available at https://tinyurl.com/post9262023.
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-recommendations-for-inherited-ovarian-cancer-genes-united-kingdom-uk/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …
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There are many different inherited breast cancer genes, and different genes lead to different levels of breast cancer risk:
Permanent link to this article: https://inheritedcancer.net/post100423/
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/
A recent study, which 𝗶𝗻𝗰𝗹𝘂𝗱𝗲𝗱 𝗜𝗖𝗔𝗥𝗘 𝗽𝗮𝗿𝘁𝗶𝗰𝗶𝗽𝗮𝗻𝘁𝘀, found that getting care according to guidelines depends on: Therefore, we need ways to improve knowledge among healthcare providers and trust in care among patients! Use this link to learn more: https://tinyurl.com/n26m4zys Reference: Dean, et al. Genet Med. 2023;100945. PMID: 37515473.
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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/
An open study for BRCA1, BRCA2, or PALB2 carriers with stage 1-3 breast cancer is currently recruiting! Learn more about the study by visiting https://vanderbilt.trialstoday.org/trial/NCT04584255
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Findings from a Phase II study to evaluate the use of talazoparib (a PARP inhibitor) in individuals with advanced PALB2-mutation breast cancer showed that it appeared effective in certain patients and appeared safe (with similar adverse events as those previously reported with this drug).1 There are several Phase II trials to evaluate PARP inhibitors in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-treatment-updates/
While higher risks for contralateral breast cancer (CBC) have been known for BRCA1 and BRCA2, a newly published study demonstrated that the risk of CBC is also higher for female PALB2 and CHEK2 carriers; however, no elevated risks were found for ATM carriers (Table 1).1 This information is important to study, as it may be …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-inherited-breast-cancer-contralateral-breast-cancer-risks/
According to a recent Phase II study, Talazoparib may benefit patients with PALB2-associated breast cancer. Findings showed that Talazoparib appeared effective and safe in certain patients with advanced disease. Read the full article at this link: https://www.nature.com/articles/s43018-022-00439-1 Reference: Gruber et al. Nat Cancer. 2022;3(10):1181-1191. PMID: 36253484.
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Check out the latest edition of our B-GREAT newsletter for updates about inherited cancers in the context of racial inequalities in healthcare. You can read the newsletter by visiting 👇https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-December-2022-Newsletter.pdf Please feel free to share with family members, friends, and/or your healthcare providers.
Permanent link to this article: https://inheritedcancer.net/post30623/
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Breast MRIs are advised in women with >20% lifetime risk of breast cancer. A new study showed that breast cancer risks in BRCA1, BRCA2 and PALB2 carriers remained higher than 20%, regardless of whether polygenic risk scores (PRS) were done, suggesting this is of limited help in refining screening. In contrast, PRS downgraded breast cancer …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-polygenic-risk-scores-and-inherited-breast-cancer-genes-brca1-2-palb2-chek2-and-atm/
The below question was addressed by Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro Intestinal Surgical Oncology at Vanderbilt-Ingram Cancer Center. Dr. Idrees’ research has focused on colorectal cancer, liver metastases, and pancreatic cancer …
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Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 making more females with breast cancer eligible for testing …
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A recent study found use of a polygenic risk score (PRS) modified the estimated riskof breast cancer among both carriers and non-carriers of inherited breast cancerpredisposition genes. Taking PRS into account, more than 95% of BRCA1, BRCA2,and PALB2 carriers had greater than 20% lifetime risks of breast cancer. In contrast,among ATM and CHEK2 carriers without …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-polygenic-risk-scores-and-breast-cancer-risks-brca1-2-palb2-chek2-atm-and-beyond/
Did you know female BRCA1, BRCA2, CHEK2, or PALB2 carriers have much higher risks for contralateral breast cancer?This information is important to guide cancer screening and risk reduction strategies. Use the link in bio to learn more!
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Early-stage, high-risk breast cancer in BRCA carriers: Results of the highly awaited phase 3 OlympiA trial showed promising results for EARLY STAGE (i.e., localized Stage 2-3) high-risk breast cancer patients with a BRCA mutation who were treated with a PARP inhibitor (olaparib) in the adjuvant setting (i.e., AFTER surgery).1 Early-stage breast cancer in this trial …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-inherited-cancer-treatment-updates/
A new study found that lifetime breast cancer risk is 15% or more in female BRCA1, BRCA2, and PALB2 carriers over age 65. This level of risk warrants consideration for continuing breast MRI.1 These results are similar to those of a study that included ICARE participants,2 which reported the risk of developing breast cancer remains …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-breast-cancer-risks-remain-high-in-palb2-brca/
A new Polish study based on two specific founder mutations in PALB2 reported that mutations in this gene may predispose to an aggressive, lethal form of prostate cancer.1 The investigators studied PALB2 prostate cancer risks, characteristics, and outcomes in almost 5,500 men with prostate cancer and compared them to over 8,000 cancer-free adults from Poland. …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-prostate-cancer-and-palb2/
In May 2021, a clinical practice resource was released by the American College of Medical Genetics and Genomics (ACMG) from a global team of cancer genetics specialists (see figure) to help guide the care of PALB2 carriers.1 PALB2 is considered the third most important breast cancer risk gene, after BRCA1 and BRCA2, with PALB2 carriers …
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A recent study including data from ICARE participants found similar rates of bilateral mastectomy across high (BRCA1, BRCA2, PALB2) and moderate (ATM, CHEK2) penetrance genes. The high rates of bilateral mastectomies seen in those with moderate penetrance genes is concerning for overtreatment. Use the link to learn more: https://jamanetwork.com/journals/jamaoncology/fullarticle/2797978?guestAccessKey=fe9a3a20-8623-4feb-a0c5-315ad43a8fcb&utm_source=jps&utm_medium=email&utm_campaign=author_alert-jamanetwork&utm_content=author-author_engagement&utm_term=1m Reference: Reid et al. Receipt of …
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A recent study found that earlier diagnosis improved survival in people at high risk of pancreatic cancer.High risk was defined based on:family history and/orinherited gene mutation (BRCA1, BRCA2, CDKN2A, Lynch Syndrome genes, PALB2, ATM, and STK11)Read the article at the link: https://ascopost.com/news/june-2022/outcomes-of-pancreas-surveillance-in-the-caps5-study-and-total-caps-cohort/Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: 10.1200/JCO.22.00298. PMID: 35704792.
Permanent link to this article: https://inheritedcancer.net/post72622/
A recent study in women of African ancestry confirmed genes previously identified to have associations with breast cancer risk (BRCA1, BRCA2, PALB2, ATM, TP53, NF1, and CHEK2) and provided new evidence of breast cancer risk for RAD51C and RAD51D, which was identified previously in European ancestry populations.Check out the full article at 👇https://pubmed.ncbi.nlm.nih.gov/35396981/Reference: Díaz-Zabala, et …
Permanent link to this article: https://inheritedcancer.net/post51722/
A new study suggests that annual breast MRI screening may reduce deaths from breast cancer by half in women with ATM, CHEK2 and PALB2 gene mutations. The data suggests starting with annual breast MRIs between the ages of 30 to 35, and adding annual mammograms starting at age 40. Read the full article to learn …
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A new study demonstrated that breast cancer pathology and other clinical features differ by inherited breast cancer gene. Read the full article to learn more!https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577Reference: Breast Cancer Association Consortium. JAMA Oncol. 2022 Jan 27. PMID: 35084436
Permanent link to this article: https://inheritedcancer.net/post20122/
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. Kerry Schaffer discusses the use of PARP inhibitors to treat inherited forms of prostate cancer.Check out Dr. Schaffer’s full response at 👇https://inheritedcancer.net/newsletters/
Permanent link to this article: https://inheritedcancer.net/post122821/
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/
For more information, view the article at 👇https://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 👇 https://ascopubs.org/doi/10.1200/JCO.20.01200
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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/
For more information, read the 𝘑𝘰𝘶𝘳𝘯𝘢𝘭 𝘰𝘧 𝘊𝘭𝘪𝘯𝘪𝘤𝘢𝘭 𝘖𝘯𝘤𝘰𝘭𝘰𝘨𝘺 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 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
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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 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/
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/
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/
Check out the newly released ACMG Clinical Practice Resource on 𝗣𝗔𝗟𝗕𝟮 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 more information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
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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/
For additional information about the: 》US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 》International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 》Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083
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Our team recently published “Sharing Genetic Test Results with Family Members of 𝘉𝘙𝘊𝘈, 𝘗𝘈𝘓𝘉2, 𝘊𝘏𝘌𝘒2, and 𝘈𝘛𝘔 Carriers” in 𝘗𝘢𝘵𝘪𝘦𝘯𝘵 𝘌𝘥𝘶𝘤𝘢𝘵𝘪𝘰𝘯 𝘢𝘯𝘥 𝘊𝘰𝘶𝘯𝘴𝘦𝘭𝘪𝘯𝘨 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 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 𝗳𝗿𝗲𝗲 to access and download 𝘂𝗻𝘁𝗶𝗹 𝗠𝗮𝗿𝗰𝗵 𝟱𝘁𝗵 at: https://www.sciencedirect.com/science/article/pii/S0738399120306832
Permanent link to this article: https://inheritedcancer.net/post11521/
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/
Abstract Background: The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women …
Permanent link to this article: https://inheritedcancer.net/pub121420/
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/
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/
For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768
Permanent link to this article: https://inheritedcancer.net/post102720/
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/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: BRCA1/2 Carriers: Breast Cancer: For those with later stage or metastatic breast cancer, the FDA currently has approvals for the use …
Permanent link to this article: https://inheritedcancer.net/2nls2020/
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/
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/
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/
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/
A recent study found that patients with metastatic pancreatic cancer who had mutations in the DNA repair genes (either inherited or just in the tumor) had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations. Check out the link to full article: https://clincancerres.aacrjournals.org/content/early/2020/05/20/1078-0432.CCR-20-0418
Permanent link to this article: https://inheritedcancer.net/post52920/
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/
Abstract Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes. Results: The 235 participants with P/LP variants …
Permanent link to this article: https://inheritedcancer.net/pub52220/
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/
I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sister’s, but being PALB2+ changed …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/
A newly published study of 524 families with pathogenic PALB2 mutations from around the world, including almost 50 ICARE participants, represents the largest, most comprehensive effort to evaluate cancer risks.1 Results showed increased risks for female breast cancer (53%), ovarian cancer (5%), pancreatic cancer (2-3%), and male breast cancer (1%). Findings did not suggest higher …
Permanent link to this article: https://inheritedcancer.net/6nlw2020/
There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the ‘genetic testing process’ Following scenarios now …
Permanent link to this article: https://inheritedcancer.net/1nlw2020/
The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …
Permanent link to this article: https://inheritedcancer.net/4nlw2020/
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: …
Permanent link to this article: https://inheritedcancer.net/post2620/
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/
Below you may watch a featured video from the January 2020 Genetics Case Conference, which focused on PALB2 gene mutations with guest expert Dr. Marc Tischkowitz from the University of Cambridge.
Permanent link to this article: https://inheritedcancer.net/video10920/
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. …
Permanent link to this article: https://inheritedcancer.net/post121619/
Abstract Purpose: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods: We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate …
Permanent link to this article: https://inheritedcancer.net/pub121619/
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/
Results from a clinical trial of individuals with a BRCA1/2 mutation and pancreatic cancer showed that patients who received a PARP inhibitor (olaparib) for maintenance treatment had almost half the risk of their disease progressing when compared to receiving a placebo.1 In fact, after 2 years, 22.1% of patients who received olaparib had no disease …
Permanent link to this article: https://inheritedcancer.net/3nls2019/
There is now information to suggest that identifying inherited mutations in DNA repair genes, such as BRCA1/2 and other genes, in men with metastatic prostate cancer may open doors for other treatment options. Results of a phase 2 clinical trial among men with metastatic and heavily pre-treated prostate cancer were presented at the American Society …
Permanent link to this article: https://inheritedcancer.net/2nls2019/
An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …
Permanent link to this article: https://inheritedcancer.net/10nlw2019/
Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …
Permanent link to this article: https://inheritedcancer.net/11nlw2019/
A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …
Permanent link to this article: https://inheritedcancer.net/9nlw2018/
Permanent link to this article: https://inheritedcancer.net/2nls2017/
The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …
Permanent link to this article: https://inheritedcancer.net/1nls2016/
When I was diagnosed with cancer the first time at age 38, my sister (a breast cancer survivor since the age of 29) was positive we had a BRCA gene mutation. However, after we both had genetic testing done in 2006 the results showed we didn’t. Doctors said they were surprised we did not have a mutation in one of …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2016/
A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …
Permanent link to this article: https://inheritedcancer.net/3nls2016/
I was first diagnosed with breast cancer when I was 56 years old. Because of my strong family history of breast cancer, I was referred for genetic counseling and had BRCA testing at that time. Recently, I was diagnosed with breast cancer again. When I went to see my surgeon, she advised me to have more genetic …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2016/
The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively. Another set of genes known to raise ovarian cancer risks are the mismatch …
Permanent link to this article: https://inheritedcancer.net/2nlw2016/
Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
Through a recent study of over 12,000 Polish women with breast cancer, PALB2 mutations were detected in almost 1%. In this study, about one third of those with a PALB2 mutation had triple negative (lacking estrogen, progesterone and HER2 receptors) breast cancer and the average age at breast cancer diagnosis was 53.3 years. Breast tumors …
Permanent link to this article: https://inheritedcancer.net/3nls2015/
Permanent link to this article: https://inheritedcancer.net/1nls2015/
Following the publication of an important article in the New England Journal of Medicine (NEJM) in August 2014, germline PALB2 gene mutations were confirmed as the third most important gene for inherited breast cancer, following BRCA1 and BRCA2.1 PALB2 stands for “partner and localizer of BRCA2” and is located on chromosome 16. Studies suggest that PALB2 mutations …
Permanent link to this article: https://inheritedcancer.net/1nlw2015/
