TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

ABSTRACT:

Purpose

TP53germline (g) mutations, associated with the Li-Fraumeni syndrome (LFS), have rarely been reported in the context of hereditary breast and ovarian cancer (HBOC). The prevalence and cancer risks in this target group are unknown and counseling remains challenging. Notably an extensive high-risk surveillance program is implemented, which evokes substantial psychological discomfort. Emphasizing the lack of consensus about clinical implications, we aim to further characterize TP53g mutations in HBOC families.

Methods

Next-generation sequencing was conducted on 1876 breast cancer (BC) patients who fulfilled the inclusion criteria for HBOC.

Results

(Likely) pathogenic variants in TP53 gene were present in 0.6% of the BC cohort with higher occurrence in early onset

SUBMITTER: Grill S 

PROVIDER: S-EPMC8087555 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature