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abstract
BACKGROUND
The
2015 National Comprehensive Cancer Network guidelines recommend that
genetic counseling and germline BRCA mutation testing be offered to
women under age 60 with triple-negative breast cancer (TNBC). As a
result of the 2010 American Society of Clinical Oncology (ASCO)/College
of American Pathologists (CAP) guidelines for breast cancer, patients
with breast cancers that are estrogen receptor (ER) or progesterone
receptor (PR) low-positive (1%-9% on immunohistochemistry) are no longer
strictly considered to have TNBC and may not be referred for genetic
counseling. However, the incidence of BRCA mutation in patients with
hormone receptor (HR) low-positive breast cancers remains unknown, and
current ASCO/CAP guidelines may result in undertesting for BRCA
mutations.
METHODS
A
prospectively maintained research database of breast cancer patients
evaluated at The University of Texas MD Anderson Cancer Center between
2004 and 2014 was reviewed; 314 patients were identified with
HER2/neu–negative breast cancers expressing ER and PR <10% with known
BRCA mutation status.
RESULTS
Three
hundred fourteen patients had breast cancers expressing ER and PR
<10%; 238 (75.8%) had HR-negative cancers (<1% ER and PR), and 76
(24.2%) had HR–low-positive cancers (1%-9% ER and/or PR). Among patients
with HR-negative tumors, 86 of 238 (36.1%) had a BRCA1/2 mutation,
whereas in the HR–low-positive group, 30 of 76 (39.5%) had a BRCA1/2
mutation. In multivariate analysis, HR status (<1% vs 1%-9%) was not
significantly associated with BRCA1/2 mutations.
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