Ontology highlight
ABSTRACT:
SUBMITTER: Ding YC
PROVIDER: S-EPMC9905572 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Ding Yuan Chun YC Adamson Aaron W AW Bakhtiari Mehrdad M Patrick Carmina C Park Jonghun J Laitman Yael Y Weitzel Jeffrey N JN Bafna Vineet V Friedman Eitan E Neuhausen Susan L SL
European journal of human genetics : EJHG 20221125 2
Despite substantial efforts in identifying both rare and common variants affecting disease risk, in the majority of diseases, a large proportion of unexplained genetic risk remains. We propose that variable number tandem repeats (VNTRs) may explain a proportion of the missing genetic risk. Herein, in a pilot study with a retrospective cohort design, we tested whether VNTRs are causal modifiers of breast cancer risk in 347 female carriers of the BRCA1 185delAG pathogenic variant, an important gro ...[more]