Open AccessExome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk
Author(s) -
Patrick Bryant,
Sophie Walton Bernstedt,
Jessada Thutkawkorapin,
Ann-Sofie Backman,
Annika Lindblom,
Kristina LagerstedtRobinson
Publication year - 2022
Publication title -
european journal of cancer prevention
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.976
H-Index - 77
eISSN - 1473-5709
pISSN - 0959-8278
DOI - 10.1097/cej.0000000000000769
Subject(s) - pms2 , penetrance , colorectal cancer , exome sequencing , mlh1 , exome , genetics , germline mutation , medicine , oncology , missense mutation , lynch syndrome , cancer , biology , mutation , gene , dna mismatch repair , phenotype