A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

ABSTRACT:

Background

An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations and an accurate clinical and family history evaluation are warranted.

Case presentation

We describe the case of a woman who developed an infiltrating ductal carcinoma of the right breast at the age of 32, a contralateral BC at age 36 and another BC of the right breast at 40. When she was 39 years-old, during a dermatological examination, mucocutaneous features suggesti

SUBMITTER: Pradella LM 

PROVIDER: S-EPMC3922036 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature