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Review
. 2022 Jun;36(3):429-447.
doi: 10.1016/j.hoc.2022.02.002. Epub 2022 May 13.

Hereditary Colorectal Cancer

Heather Hampel  1 , Matthew F Kalady  2 , Rachel Pearlman  3 , Peter P Stanich  4
Affiliations
Review

Hereditary Colorectal Cancer

Heather Hampel et al. Hematol Oncol Clin North Am. 2022 Jun.

Abstract

Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. The nonpolyposis conditions can be divided into those that lead to colorectal tumors with defective mismatch repair and those that do not. The polyposis conditions are further divided by predominant histology into the adenomatous, hamartomatous, serrated, and mixed polyposis conditions. All of these conditions are described in detail herein.

Keywords: Cancer; Colorectal; Hereditary; Lynch syndrome; Polyposis.

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Conflict of interest statement

Disclosure Professor Hampel is on the scientific advisory board for Promega, Invitae Genetics, and Genome Medical. She has stock/stock options in Genome Medical and GI OnDemand. Dr Stanich receives research support from Emtora Biosciences, Freenome Holdings Inc, Janssen Pharmaceuticals, Pfizer Inc. and the PTEN Research Foundation. Dr Kalady is on the Scientific Advisory Board for Activ Surgical and receives stock options.

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