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.
Permanent link to this article: https://inheritedcancer.net/post31223/
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 …
Permanent link to this article: https://inheritedcancer.net/post62122/
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/