Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.

ABSTRACT:

Background

Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant. The risk management of TP53 germline mutation carriers is more stringent than BRCA carriers, and radiotherapy should be avoided when possible.

Methods

TP53 gene mutation screening was performed in 2538 Chinese breast cancer patients who tested negative for BRCA mutations.

Results

Twenty TP53 mutations were identified with high next-generation sequencing concerning for germline mutations in Chinese breast cancer families. The majorities of the TP53 carriers had early-onset, hormone receptor-positive breast cancer, and had

SUBMITTER: Kwong A 

PROVIDER: S-EPMC7607817 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature