TY - JOUR
T1 - Hereditary Cancer Syndromes—A Primer on Diagnosis and Management
T2 - Part 1: Breast-Ovarian Cancer Syndromes
AU - Samadder, N. Jewel
AU - Giridhar, Karthik V.
AU - Baffy, Noemi
AU - Riegert-Johnson, Douglas
AU - Couch, Fergus J.
N1 - Publisher Copyright:
© 2019 Mayo Foundation for Medical Education and Research
Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2019/6
Y1 - 2019/6
N2 - 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.
AB - 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.
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U2 - 10.1016/j.mayocp.2019.02.017
DO - 10.1016/j.mayocp.2019.02.017
M3 - Review article
C2 - 31171119
AN - SCOPUS:85066250067
SN - 0025-6196
VL - 94
SP - 1084
EP - 1098
JO - Mayo Clinic Proceedings
JF - Mayo Clinic Proceedings
IS - 6
ER -