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PMID: 26669313 已发表 · ppublish 英语

SEOM clinical guidelines in Hereditary Breast and ovarian cancer.

Llort G, Chirivella I, Morales R, Serrano R, Sanchez A Beatriz, Teulé A, Lastra E, Brunet J, Balmaña J, Graña B,

摘要

Approximately, 7 % of all breast cancers (BC) and 11-15 % of ovarian cancers (OC) are associated with inherited predisposition, mainly related to germline mutations in high penetrance BRCA1/2 genes. Clinical criteria for genetic testing are based on personal and family history to estimate a minimum 10 % detection rate. Selection criteria are evolving according to new advances in this field and the clinical utility of genetic testing. Multiplex panel testing carries its own challenges and we recommend inclusion of genes with clinical utility. We recommend screening with annual mammography from age 30 and breast MRI from age 25 for BRCA1 and BRCA2 mutation carriers. Bilateral salpingo-oophorectomy should be offered to women with a BRCA1 or BRCA2 mutation, between 35 and 40 years and after completion of childbearing, or individualise based on the earliest age of ovarian cancer diagnosed in the family. Bilateral risk-reducing mastectomy is an option for healthy BRCA1 and BRCA2 mutation carriers, as well as contralateral mastectomy for young patients with a prior BC diagnosis. BRCA genetic testing in patients with BC and OC may influence their locoregional and systemic treatment.

关键词
BRCA1 and BRCA2 genes Hereditary breast and ovarian cancer Prevention SEOM
文献信息
期刊
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
期刊简称
Clin Transl Oncol
发表日期
2016-10-05
收录日期
2015-12-24
更新日期
2016-11-10
语言
英语
国家/地区
Italy
NLM ID
101247119
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