TY - JOUR

T1 - Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

AU - Jelsig, Anne Marie

AU - Byrjalsen, Anna

AU - Madsen, Majbritt Busk

AU - Kuhlmann, Tine Plato

AU - Hansen, Thomas van Overeem

AU - Wadt, Karin A.W.

AU - Karstensen, John Gásdal

N1 - Publisher Copyright: © 2021 Jelsig et al.

PY - 2021

Y1 - 2021

N2 - Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient’s family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10–12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.

AB - Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient’s family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10–12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.

KW - Cancer

KW - Familial adenomatous polyposis

KW - Hereditary

KW - Management

KW - Polyposis

UR - http://www.scopus.com/inward/record.url?scp=85122698179&partnerID=8YFLogxK

U2 - 10.2147/TACG.S295157

DO - 10.2147/TACG.S295157

M3 - Review

C2 - 34866929

AN - SCOPUS:85122698179

VL - 14

SP - 455

EP - 466

JO - Application of Clinical Genetics

JF - Application of Clinical Genetics

SN - 1178-704X

ER -