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J Hum Genet ; 61(6): 515-22, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26911350

RESUMO

Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories, ⩽40 years, 40-50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.


Assuntos
Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Síndrome Hereditária de Câncer de Mama e Ovário/epidemiologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Mutação , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Adulto , Idade de Início , Idoso , Neoplasias da Mama/diagnóstico , Variações do Número de Cópias de DNA , Feminino , Deleção de Genes , Duplicação Gênica , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/métodos , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Índia/epidemiologia , Pessoa de Meia-Idade , Taxa de Mutação , Neoplasias Ovarianas/diagnóstico , Prevalência , Adulto Jovem
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