医学
考登综合征
PTEN公司
基因检测
遗传咨询
肿瘤科
风险评估
卵巢癌
妇科
内科学
生物信息学
癌症
遗传学
PI3K/AKT/mTOR通路
生物
细胞凋亡
计算机科学
计算机安全
作者
Mary B. Daly,Robert Pilarski,Jennifer E. Axilbund,Saundra S. Buys,James M. Ford,Susan Friedman,Judy E. Garber,Carolyn Horton,Virginia Kaklamani,Catherine Klein,Wendy Kohlmann,Allison W. Kurian,Jennifer K. Litton,Lisa Madlensky,P. Kelly Marcom,Sofía D. Merajver,Kenneth Offit,Tuya Pal,Boris Pasche,Gwen Reiser
标识
DOI:10.6004/jnccn.2014.0127
摘要
During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.
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