Prevalence Of Palb2 Mutations In An Unselected Cohort Of Breast Cancer Patients And Unaffected Individuals From Malaysia And Singapore

Background: Rare variants such as protein truncating and splice-junction variants in PALB2 have been found to confer increased risk to breast cancer. However, previous studies have only investigated the prevalence of mutation carriers in individuals selected on the basis of earlier age of diagnosis or on family history of breast cancer. In this study, we sought to determine the prevalence of PALB2 in an unselected hospital-based multi-ethnic cohort of breast cancer cases and healthy women from Malaysia and Singapore.Method: Amplicon-based targeted sequencing of the PALB2 gene which include all coding exons and splice site junctions was performed to identify germline alterations in an unselected cohort of 5021 affected and 5192 healthy individuals recruited from multiple centres. Associations between pathogenic (protein truncating) variants and breast cancer risk were evaluated using logistic regression …