The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024 (Version 1.2025), which included the following CDKN2A updates ⤸ The CDKN2A gene produces two isoforms, both of which are tumor suppressors:➡️ p16INK4A and p14ARF For individuals with both of these isoforms, recommend:➡️ Skin exams …
Permanent link to this article: https://inheritedcancer.net/post110724/
Over the last few years, there has been mixed information about the risk of melanoma in BRCA1/2 carriers – while earlier studies had suggested an association,1,2 other studies showed no association.3,4 Thus, based on current evidence, it is unclear if BRCA1 and/or BRCA2 pathogenic variants increase melanoma risk based on the current evidence.5,6 However, more recently, a study, which …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risk-of-melanoma-in-brca1-2-carriers/
A new study in which ICARE participants were included reported that compared to 1.5% in the general population, the risk of melanoma may be slightly elevated: in BRCA1/2 carriers:○ BRCA1: 2.5%○ BRCA2: 2.3% Read the full article to learn more at: https://tinyurl.com/ye2xxfru Reference: Narod et al. Hered Cancer Clin Pract. 2024;22(1):7. PMID: 38741145.
Permanent link to this article: https://inheritedcancer.net/post82624/
In recognition of Sarcoma Awareness Month, a new study found that POT1 mutations are associated with an increased risk for melanoma and a wider variety of different sarcomas than previously described. Specifically, the study showed significant raised risks of around 7-fold for both sarcoma and melanoma. This included many different types of sarcomas, including: Learn …
Permanent link to this article: https://inheritedcancer.net/post72824/
Are BRCA2 carriers at higher risk for developing melanoma? As featured in our Fall 2023 newsletter, at present, we are not sure because results from different studies have been inconsistent. For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma; however, another study of 139 Dutch families …
Permanent link to this article: https://inheritedcancer.net/post100623/
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/
At present, we are not sure because results from different studies have been inconsistent (1). For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma (2); however, another study of 139 Dutch families with a BRCA2 mutation revealed a lower than general population risk for melanoma (3). …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-are-brca2-carriers-at-higher-risk-for-melanoma/
A recently published cohort study of 483 individuals with Li-Fraumeni Syndrome (LFS) identified 113 skin cancers. The cumulative incidence of a diagnosis of any skin cancer was 36.3% by the age of 70. Specifically for melanoma, the median age at diagnosis was 42 with a 7-fold increased incidence (SIR 7.28, 95% CI 4.50-11.13) compared with …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-melanoma-risk-in-li-fraumeni-syndrome/
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.
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A new study found a 7-fold increased incidence of melanoma in individuals with TP53/Li-Fraumeni Syndrome compared with the general population:• Average age was 42• Risk to age 40 was 2.8%• Risk to age 60 was 7.8%• Risk to age 70 was 14.9% Learn more at the link below!https://pubmed.ncbi.nlm.nih.gov/35183552/ Reference: Hatton, et al. J Invest Dermatol. …
Permanent link to this article: https://inheritedcancer.net/post30723/
A recent study found that pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with multiple cancers. Specifically, moderate-to-high risks for pancreatic, prostate, gastric, and invasive ductal breast cancers, and low-to-moderate risks for ductal carcinoma in situ, male breast cancer, ovarian cancer, colorectal cancer, and melanoma.This provides more data to guide risks and …
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Results from a small study suggest that melanomas in CDKN2A carriers may have better response rates to immunotherapy compared to non-carriers.Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/30291219/Reference: Helgadottir et al. J Med Genet. 2020 May;57(5): 316-321. PMID: 30291219.
Permanent link to this article: https://inheritedcancer.net/post51022/
Did you know that CDKN2A mutations are found in 35-43% of families with three or more family members with melanoma?Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/33945383/Reference: Pissa et al. Acta Oncol. 2021 Jul;60(7):888-896. PMID: 33945383.
Permanent link to this article: https://inheritedcancer.net/post50622/
𝘐𝘯 𝘳𝘦𝘤𝘰𝘨𝘯𝘪𝘵𝘪𝘰𝘯 𝘰𝘧 𝘴𝘬𝘪𝘯 𝘤𝘢𝘯𝘤𝘦𝘳 𝘢𝘸𝘢𝘳𝘦𝘯𝘦𝘴𝘴 𝘮𝘰𝘯𝘵𝘩, we present cancer risks and management for 𝗖𝗗𝗞𝗡𝟮𝗔 per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻: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/
