TY - JOUR
T1 - Hereditary colorectal, gastric, and pancreatic cancer
T2 - comprehensive review
AU - Seppälä, Toni T.
AU - Burkhart, Richard A.
AU - Katona, Bryson W.
N1 - Funding Information:
T.T.S. is supported by funding from the Academy of Finland and iCAN Precision Medicine Flagship of Academy of Finland, and research grants from the Jane and Aatos Erkko Foundation, Sigrid Juselius Foundation, Emil Aaltonen Foundation, Cancer Society Finland, and Relander Foundation. B.W.K. is supported by funding from the Jason and Julie Borrelli Lynch Syndrome Research Fund, Scott and Suzi Lustgarten Colon Cancer Research Fund, Smith Family Research Fund, King Family Fund for Lynch Syndrome Education, Outreach and Impact, Basser Center for BRCA, and DeGregorio Family Foundation.
Publisher Copyright:
© The Author(s) 2023.
PY - 2023
Y1 - 2023
N2 - Background: Inheritance patterns show familial clustering of gastrointestinal cancers, and multiple germline conditions have now been identified that predispose to colorectal, gastric, and pancreatic cancers. Methods: A narrative review based on recent relevant literature was conducted. Results: Lynch syndrome, formerly known as hereditary non-polyposis colorectal cancer, increases the risk of several abdominal cancers, with the highest population prevalence. Familial adenomatous polyposis and some of the more infrequent polyposis syndromes have distinct characteristics affecting various organ-specific cancer risks. Hereditary gastric and pancreatic cancer syndromes include those also causing colorectal cancer, while additional genetic disorders predisposing only to upper gastrointestinal malignancies have been recognized more recently. Diagnosing and managing hereditary cancer syndromes requires multidisciplinary expertise and may be best managed in tertiary centres, with a need to consider patient preference and ensure shared decision-making. Conclusion: Several germline conditions predispose to colorectal, gastric, and pancreatic cancer, which inform identification, surveillance regimens, prevention, cascade screening, counselling, and surgical management. The authors describe developments in the hereditary origin of colorectal, gastric, and pancreatic cancer with current recommendations in surveillance and surgical management.
AB - Background: Inheritance patterns show familial clustering of gastrointestinal cancers, and multiple germline conditions have now been identified that predispose to colorectal, gastric, and pancreatic cancers. Methods: A narrative review based on recent relevant literature was conducted. Results: Lynch syndrome, formerly known as hereditary non-polyposis colorectal cancer, increases the risk of several abdominal cancers, with the highest population prevalence. Familial adenomatous polyposis and some of the more infrequent polyposis syndromes have distinct characteristics affecting various organ-specific cancer risks. Hereditary gastric and pancreatic cancer syndromes include those also causing colorectal cancer, while additional genetic disorders predisposing only to upper gastrointestinal malignancies have been recognized more recently. Diagnosing and managing hereditary cancer syndromes requires multidisciplinary expertise and may be best managed in tertiary centres, with a need to consider patient preference and ensure shared decision-making. Conclusion: Several germline conditions predispose to colorectal, gastric, and pancreatic cancer, which inform identification, surveillance regimens, prevention, cascade screening, counselling, and surgical management. The authors describe developments in the hereditary origin of colorectal, gastric, and pancreatic cancer with current recommendations in surveillance and surgical management.
U2 - 10.1093/bjsopen/zrad023
DO - 10.1093/bjsopen/zrad023
M3 - Review Article
AN - SCOPUS:85161632346
SN - 2474-9842
VL - 7
JO - BJS open
JF - BJS open
IS - 3
M1 - zrad023
ER -