Clinical implications of germline mutations in breast cancer: TP53.

ABSTRACT:

Purpose

This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women.

Methods

Literature review of English language papers available through PubMed.

Results

Women who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. Most of these breast cancers are early onset with a median age at diagnosis of 34 years. Approximately 5-8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. Mastectomy is recommended over lumpec

SUBMITTER: Schon K 

PROVIDER: S-EPMC5790840 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature