Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.

ABSTRACT:

Background

The data on prevalence and clinical relevance of TP53 germline mutations in early onset Middle-Eastern breast cancer (BC) is limited.

Methods

We determined TP53 germline mutations in a cohort of 464 early onset BC patients from Saudi Arabia using capture sequencing based next generation sequencing.

Results

Germline TP53 pathogenic mutations were found in 1.5% (7/464) of early onset Saudi BC patients. A total of six pathogenic missense mutations, one stop gain mutation and two variants of uncertain significance (VUS) were detected in our cohort. No TP53 pathogenic mutations were detected among 463 healthy controls. TP53 mutations carriers were significantly more likely to have bilateral breast cancer (p = 0.0008). At median follow-up of 41 months, TP53 mutat

SUBMITTER: Siraj AK 

PROVIDER: S-EPMC8670057 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature