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.
N1 - Funding Information:
Huiying Ma acknowledges financial support from the China Scholarship Council (CSC) . The authors state that there are no conflicts of interest to disclose.
Publisher Copyright:
© 2017 Royal College of Pathologists of Australasia
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2018/1
Y1 - 2018/1
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.
AB - 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.
KW - Familial colon cancer
KW - genetic defect
KW - hereditary polyposis syndrome
UR - http://www.scopus.com/inward/record.url?scp=85034595657&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85034595657&partnerID=8YFLogxK
U2 - 10.1016/j.pathol.2017.09.004
DO - 10.1016/j.pathol.2017.09.004
M3 - Review article
C2 - 29169633
AN - SCOPUS:85034595657
SN - 0031-3025
VL - 50
SP - 49
EP - 59
JO - Pathology
JF - Pathology
IS - 1
ER -