Journal of the National Comprehensive Cancer Network · 2023 · 290 citations · 37 references
Life SciencesGeneticsOncologyCancer GeneticsGenetic CounselingMedical GeneticsBreast Cancer Risk AssessmentGenetic RiskGenetic Risk AssessmentGermline Cancer PredispositionGermline Cancer SusceptibilityHereditary Cancer SyndromesBrca2 Mutation RiskGenetic Counseling Risk AssessmentGenetic TestingHereditary Breast Cancer Risk AssessmentHereditary Cancer RiskHereditary Cancer ScreeningLi-fraumeni SyndromeTp53 Mutations
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.
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Mutational landscape and significance across 12 major cancer types
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Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms
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