医学
林奇综合征
CDKN2A
癌症
子宫内膜癌
肿瘤科
先证者
种系突变
胰腺癌
内科学
一级亲属
MLH1
子宫癌
结直肠癌
家族史
遗传学
生物
突变
基因
DNA错配修复
作者
Xuan Chen,Margaret Meyer,Jennifer L. Kemppainen,Masayasu Horibe,Shruti Chandra,Shounak Majumder,Gloria M. Petersen,Kari G. Rabe
出处
期刊:JAMA Oncology
[American Medical Association]
日期:2023-05-18
卷期号:9 (7): 955-955
被引量:6
标识
DOI:10.1001/jamaoncol.2023.0806
摘要
Increased cancer risk in first-degree relatives of probands with pancreatic ductal adenocarcinoma (PDAC probands) who carry pathogenic or likely pathogenic germline variants (PGVs) in cancer syndrome-associated genes encourages cascade genetic testing. To date, unbiased risk estimates for the development of cancers on a gene-specific basis have not been assessed.
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