1Fox Chase Cancer Center.
2Vanderbilt-Ingram Cancer Center.
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.
NCCN 遗传/家族性高风险评估指南:乳腺、卵巢和胰腺重点主要评估与乳腺癌、卵巢癌和胰腺癌风险增加相关的致病性或可能致病性变异,以及在携带这些致病性或可能致病性变异的个体中进行基因检测/咨询和管理策略的推荐方法。本文主要关注与 BRCA 相关的乳腺/卵巢癌综合征和 Li-Fraumeni 综合征的癌症风险和风险管理。携带 BRCA1/2 致病性或可能致病性变异的个体具有极高的乳腺癌和卵巢癌风险,需要考虑更强化的筛查和预防策略。此外,这些携带者中前列腺癌和胰腺癌的风险也升高。Li-Fraumeni 综合征是一种高外显率的癌症综合征,与终生癌症风险增加相关,包括软组织肉瘤、骨肉瘤、绝经前乳腺癌、结肠癌、胃癌、肾上腺皮质癌和脑肿瘤。
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