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

N. Jewel Samadder, Karthik V. Giridhar, Noemi Baffy, Douglas Riegert-Johnson, Fergus J. Couch

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1084-1098
Number of pages15
JournalMayo Clinic proceedings
Issue number6
StatePublished - Jun 2019

ASJC Scopus subject areas

  • General Medicine


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