Cancer Predisposition in BRRS

The risk of malignancy in BRRS is not well defined. Historically, there is no mention of cancer predisposition in early BRRS literature (8,31), as follow up of cases into adulthood is virtually never reported. However, once it was realized that CS and BRRS are allelic (34) (discussed later), this opinion has changed. In addition, the single largest study of genotype-phenotype correlation in patients with BRRS demonstrated a strong correlation between germline PTEN mutations and both benign (fibroadenomas) and malignant breast diseases in families with BRRS or CS/BRRS overlap (families consisting of individuals who meet CS criteria in addition to individuals felt to have BRRS) (35). This finding solidified the recommendation that all patients with PTEN mutations, irrespective of phenotypic presentation, be screened for cancer in the same manner as a patient with CS, and led to the evolution of the concept of PHTS.

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