Hereditary Colorectal Cancer

Heather Hampel; Matthew F Kalady; Rachel Pearlman; Peter P Stanich

doi:10.1016/j.hoc.2022.02.002

Hereditary Colorectal Cancer

Hematol Oncol Clin North Am. 2022 Jun;36(3):429-447. doi: 10.1016/j.hoc.2022.02.002. Epub 2022 May 13.

Authors

Heather Hampel¹, Matthew F Kalady², Rachel Pearlman³, Peter P Stanich⁴

Affiliations

¹ Division of Human Genetics, Biospecimen Research, Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2012 Kenny Road, Room 257, Columbus, OH 43221, USA. Electronic address: Heather.Hampel@osumc.edu.
² Division of Colorectal Surgery, Division of Colon & Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA. Electronic address: https://twitter.com/MattKaladyMD.
³ Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2012 Kenny Road, Room 255, Columbus, OH 43221, USA. Electronic address: https://twitter.com/RachelP_LGC.
⁴ Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, 395 W 12th Avenue, Second Floor, Columbus, OH 43210, USA. Electronic address: https://twitter.com/docstanich.

PMID: 35577708
DOI: 10.1016/j.hoc.2022.02.002

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Adenomatous Polyposis Coli* / diagnosis
Adenomatous Polyposis Coli* / genetics
Colorectal Neoplasms* / diagnosis
Colorectal Neoplasms* / genetics
Colorectal Neoplasms* / therapy
Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
Colorectal Neoplasms, Hereditary Nonpolyposis* / therapy
Humans
Neoplastic Syndromes, Hereditary* / diagnosis
Neoplastic Syndromes, Hereditary* / genetics