PALB2
医学
基因检测
遗传咨询
卵巢癌
肿瘤科
林奇综合征
乳腺癌
胰腺癌
妇科
前列腺癌
内科学
癌症
结直肠癌
DNA错配修复
种系突变
遗传学
突变
基因
生物
作者
Mary B. Daly,Tuya Pal,Kara N. Maxwell,Jane Churpek,Wendy Kohlmann,Zahraa Al‐Hilli,Banu Arun,Saundra S. Buys,Heather H. Cheng,Susan M. Domchek,Susan Friedman,Veda N. Giri,Michael Goggins,Andrea R. Hagemann,Ashley Hendrix,Mollie L. Hutton,Beth Y. Karlan,Nawal Kassem,Seema Khan,Katia Khoury
出处
期刊:Journal of The National Comprehensive Cancer Network
日期:2023-10-01
卷期号:21 (10): 1000-1010
被引量:239
标识
DOI:10.6004/jnccn.2023.0051
摘要
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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