Abstract:
"Inherited loss-of-function mutations in the tumor suppressor genes
BRCA1,
BRCA2, and multiple other genes predispose to high risks of
breast and/or ovarian cancer.
Cancer-associated inherited mutations
in these genes are collectively quite common, but
individually rare or even private. Genetic testing for
BRCA1
and
BRCA2 mutations has become an integral part of clinical
practice,
but testing is generally limited to these two genes and to
women
with severe family histories of breast or ovarian
cancer.
To determine whether massively parallel, “next-generation”
sequencing
would enable accurate, thorough, and cost-effective
identification of inherited mutations for breast and ovarian cancer, we
developed a
genomic assay to capture, sequence, and
detect
all mutations in 21 genes, including
BRCA1 and
BRCA2,
with inherited mutations that predispose to breast or ovarian cancer"
"There were zero false-positive calls of nonsense
mutations, frameshift mutations, or genomic
rearrangements for any gene in any of the test samples. This approach
enables
widespread genetic testing and personalized risk
assessment for breast and ovarian cancer"