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Pathology and genetics of hereditary colorectal cancer.
Pathology. 2018 Jan; 50(1):49-59.P

Abstract

Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes.

Authors+Show Affiliations

Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands. Electronic address: h.ma@umcutrecht.nl.Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.Department of Medicine, United States.Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

29169633

Citation

Ma, Huiying, et al. "Pathology and Genetics of Hereditary Colorectal Cancer." Pathology, vol. 50, no. 1, 2018, pp. 49-59.
Ma H, Brosens LAA, Offerhaus GJA, et al. Pathology and genetics of hereditary colorectal cancer. Pathology. 2018;50(1):49-59.
Ma, H., Brosens, L. A. A., Offerhaus, G. J. A., Giardiello, F. M., de Leng, W. W. J., & Montgomery, E. A. (2018). Pathology and genetics of hereditary colorectal cancer. Pathology, 50(1), 49-59. https://doi.org/10.1016/j.pathol.2017.09.004
Ma H, et al. Pathology and Genetics of Hereditary Colorectal Cancer. Pathology. 2018;50(1):49-59. PubMed PMID: 29169633.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pathology and genetics of hereditary colorectal cancer. AU - Ma,Huiying, AU - Brosens,Lodewijk A A, AU - Offerhaus,G Johan A, AU - Giardiello,Francis M, AU - de Leng,Wendy W J, AU - Montgomery,Elizabeth A, Y1 - 2017/11/21/ PY - 2017/08/30/received PY - 2017/09/11/accepted PY - 2017/11/25/pubmed PY - 2018/8/7/medline PY - 2017/11/25/entrez KW - AFAP KW - CS KW - Cowden syndrome KW - FAP KW - Familial colon cancer KW - JPS KW - LS KW - Lynch syndrome KW - MAP KW - MUTYH-associated polyposis KW - PJS KW - Peutz–Jeghers syndrome KW - SPS KW - attenuated familial adenomatous polyposis KW - familial adenomatous polyposis KW - genetic defect KW - hereditary polyposis syndrome KW - juvenile polyposis syndrome KW - serrated polyposis syndrome SP - 49 EP - 59 JF - Pathology JO - Pathology VL - 50 IS - 1 N2 - Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes. SN - 1465-3931 UR - https://www.unboundmedicine.com/medline/citation/29169633/Pathology_and_genetics_of_hereditary_colorectal_cancer_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0031-3025(17)30445-2 DB - PRIME DP - Unbound Medicine ER -