Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.

ABSTRACT:

Background

The objective of this study was to determine spectrum and prevalence of germline mutations in TP53 gene among Polish women with early-onset breast cancer (BC), which has not been determined until now.

Methods

A cohort of 100 females with BC diagnosed ≤ 30 years of age and with a positive family history of cancer was used as a discovery cohort. 1880 women with BC ≤ 45 years old and a control group of 2000 healthy women were genotyped as a replication phase of this study.

Results

Four heterozygous pathogenic missense mutations were detected in a group of 100 patients with early-onset breast cancer. On the basis of software prediction and available literature data, all these variants were defined as pathogenic. None of these TP53 variants were detected among 1

SUBMITTER: Rogoza-Janiszewska E 

PROVIDER: S-EPMC7796867 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature