Mesh : Male Female Humans Germ-Line Mutation Genetic Testing Breast Neoplasms / diagnosis genetics Genetic Predisposition to Disease Risk Factors Ovarian Neoplasms / diagnosis genetics

来  源:   DOI:10.6004/jnccn.2023.0051

Abstract:
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.
摘要:
NCCN遗传/家族性高危评估指南:乳腺,卵巢,和胰腺重点主要是评估与乳腺风险增加相关的致病性/可能致病性(P/LP)变异,卵巢,胰腺,前列腺癌,包括BRCA1,BRCA2,CDH1,PALB2,PTEN,和TP53,以及对患有这些P/LP变异的个体进行遗传咨询/测试和护理策略的建议方法。这些NCCN指南见解总结了以下方面的重要更新:(1)变性人的新部分,具有癌症遗传倾向的非二元和性别多样化的人专注于降低卵巢癌风险的策略,子宫癌,前列腺癌,和乳腺癌;(2)与TP53P/LP变异和Li-Fraumeni综合征相关的测试标准和管理。
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