Abstract
Landmark discoveries in the field of breast cancer research include the identification of germline BRCA mutations as a cause of hereditary disease, and the use of gene-expression profiling to identify distinct subtypes of breast cancer. These findings, coupled with the availability of rapid germline testing, make it possible to identify a BRCA mutation carrier contemporaneous with a diagnosis of breast cancer. For the first time, testing for a germline mutation that predisposes to cancer has the potential to influence the immediate surgical, radiotherapeutic, and drug treatment choices of an individual with a new diagnosis of breast cancer. In this Review, we examine the implications of moving germline BRCA mutation testing from highly specialized family cancer clinics to mainstream settings.
MeSH terms
-
Adult
-
Age of Onset
-
Breast Neoplasms / classification
-
Breast Neoplasms / epidemiology
-
Breast Neoplasms / genetics*
-
Breast Neoplasms / prevention & control
-
Breast Neoplasms / psychology
-
Breast Neoplasms / therapy
-
Case Management
-
Ethnicity / genetics
-
Female
-
Gene Expression Profiling
-
Genes, BRCA1*
-
Genes, BRCA2*
-
Genes, Dominant
-
Genetic Counseling
-
Genetic Predisposition to Disease
-
Genetic Testing* / psychology
-
Germ-Line Mutation*
-
Humans
-
Mastectomy / psychology
-
Neoplasm Proteins / analysis
-
Neoplasm Proteins / genetics
-
Neoplasms, Second Primary / epidemiology
-
Neoplasms, Second Primary / prevention & control
-
Neoplastic Syndromes, Hereditary / diagnosis
-
Neoplastic Syndromes, Hereditary / epidemiology
-
Neoplastic Syndromes, Hereditary / genetics*
-
Neoplastic Syndromes, Hereditary / psychology
-
Ovarian Neoplasms / epidemiology
-
Ovarian Neoplasms / genetics
-
Precision Medicine
-
Prognosis
-
Risk