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Article

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

The Journal of molecular diagnostics : JMD - 1 Sept 2012

Ozcelik Hilmi, Shi Xuejiang, Chang Martin C, Tram Eric, Vlasschaert Matt, Di Nicola Nando, Kiselova Anna, Yee Denise, Goldman Aaron, Dowar Mark, Sukhu Balram, Kandel Rita, Siminovitch Kathy

Abstract excerpt

Individuals and families carrying mutations in BRCA1 and BRCA2 (BRCA1/2) have a markedly elevated risk of developing breast and ovarian cancers. The first-generation of BRCA1/2 mutation analysis targeted only the coding exons and has implicated protein-truncating mutations (indel, nonsense) in BRCA1/2 inactivation. Recently, heritable breast cancers have also been attributed to other exonic mutations (missense,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22874498
DOI: 10.1016/j.jmoldx.2012.03.006

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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