Hereditary Cancer Syndromesd-A Primer on Diagnosis and Management, Part 1: Breast-Ovarian Cancer Syndromes

被引:46
|
作者
Samadder, N. Jewel [1 ,2 ,4 ]
Giridhar, Karthik V. [5 ]
Baffy, Noemi [1 ]
Riegert-Johnson, Douglas [2 ,3 ,4 ]
Couch, Fergus J. [6 ]
机构
[1] Mayo Clin, Div Gastroenterol & Hepatol, Scottsdale, AZ USA
[2] Mayo Clin, Dept Clin Genom, Scottsdale, AZ USA
[3] Mayo Clin, Div Gastroenterol & Hepatol, Jacksonville, FL 32224 USA
[4] Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA
[5] Mayo Clin, Div Med Oncol, Rochester, MN USA
[6] Mayo Clin, Dept Lab Med, Rochester, MN USA
关键词
BILATERAL PROPHYLACTIC MASTECTOMY; BRCA2 MUTATION CARRIERS; REDUCING SALPINGO-OOPHORECTOMY; REPAIR GENE MUTATION; FAMILY-HISTORY; FUNCTIONAL-ANALYSIS; HIGH-RISK; INTEGRATED EVALUATION; CLINICAL-SIGNIFICANCE; INHERITED MUTATIONS;
D O I
10.1016/j.mayocp.2019.02.017
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Cancer is the second leading cause of death in both men and women in the United States, with colorectal cancer and breast cancer being two of the most frequent cancer types. Hereditary causes occurring due to pathogenic sequence variants and defects in certain genes makes up roughly 5% of all colorectal cancers and breast-ovarian cancers. High-risk hereditary predisposition syndromes have been associated with a substantially increased lifetime risk for the development of colorectal cancers and breast-ovarian cancers depending on the genetic syndrome, and many people also carry an increased risk of several other cancers compared with the general population. The aim of this review was to provide comprehensive literature on the most commonly encountered hereditary predisposition syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, hamartomatous polyposis, and breast-ovarian cancer conditions. This will be presented as a 2-part series: the first part will cover the breast-ovarian cancer syndromes, and the second will focus on the inherited colorectal cancer and polyposis conditions. (C) 2019 Mayo Foundation for Medical Education and Research
引用
收藏
页码:1084 / 1098
页数:15
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