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Abstract
Version of Record online: 13 JAN 2017
Funded by Myriad Genetic Laboratories
BACKGROUND
As
panel testing becomes more common in clinical practice, it is important
to understand the prevalence and trends associated with the pathogenic
variants (PVs) identified. This is especially true for genetically
heterogeneous cancers, such as breast cancer (BC), in which PVs in
different genes may be associated with various risks and cancer
subtypes. The authors evaluated the outcomes of genetic testing among
women who had a personal history of BC.
METHODS
A
total of 35,409 women with a single diagnosis of BC who underwent
clinical genetic testing with a 25-gene panel were included in the
current analysis. Women with multiple BCs and men with BC were excluded.
The frequency and distribution of PVs were assessed for the overall
cohort, among women with triple-negative BC (TNBC) (n = 4797), and by
age at diagnosis.
RESULTS
PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2, including checkpoint kinase 2 (CHEK2) (11.7%), ataxia telangiectasia mutated (ATM; ATM serine/threonine kinase) (9.7%), and partner and localizer of BRCA2 (PALB2) (9.3%). The prevalence of PVs in BRCA1, PALB2, BRCA1-associated RING domain 1 (BARD1), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and RAD51 paralog C (RAD51C)
was statistically higher among women with TNBC. The PV rate was higher
among women aged <40 years, lower among women aged >59 years, and
relatively constant (8.5%-9.0%) among women who were diagnosed between
ages 40 and 59 years.
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