Germline mutations in BRCA1 or BRCA2 (BRCA) are responsible for 5–15% of breast (BC) and ovarian cancers (OC), predisposing to
the development of early onset and often multiple primary tumors. Since mutation carriers
can benefit from risk-reducing interventions, the identification of individuals with
hereditary breast and ovarian cancer (HBOC) syndrome has a significant clinical impact.
We assessed whether a panel assay for recurrent Hispanic BRCA mutations (HISPANEL) has an adequate breadth of coverage to be suitable as a cost
effective screening tool for HBOC in a cohort of patients from Southern Brazil. A
multiplex, PCR-based panel was used to genotype 232 unrelated patients for 114 germline
BRCA mutations, finding deleterious mutations in 3.5% of them. This mutation prevalence
is within the range detected by the HISPANEL among BC patients unselected for family
history in other Latin American settings. The HISPANEL would have accounted for 27%
of the BRCA mutations detected by complete sequencing in a comparison cohort (n = 193). This
prevalence may be region-specific since significant differences in population structure
exist in Brazil. Comprehensive analysis of BRCA in a larger set of HBOC patients from different Brazilian regions is warranted, and
the results could inform customization of the HISPANEL as an affordable mutation screening
tool.
Keywords
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Article info
Publication history
Published online: June 22, 2016
Accepted:
June 9,
2016
Received in revised form:
June 7,
2016
Received:
January 28,
2016
Identification
Copyright
© 2016 Published by Elsevier Inc.
