BRCA1-BRCA2 mutation analysis results in 910 individuals: Mutation distribution and 8 novel mutations

BRCA1-BRCA2 mutation analysis results in 910 individuals: Mutation distribution and 8 novel mutations

•BRCA1/2 mutations detected nearly 10 percent of the patients who underwent testing.•Family history and age of diagnosis are the most important risk factors for BRCA1/2 mutation.•Sequencing analysis of large exons (BRCA1-exon 10, BRCA2-exon 11) could detect more than half of mutations.

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Veröffentlicht in:Cancer genetics 2020-02, Vol.241, p.20-24
Hauptverfasser: Solmaz, Aslı Ece, Onay, Hüseyin, Yeniay, Levent, Gökmen, Erhan, Özdemir, Necmettin, Alanyalı, Senem, Oktay, Ayşenur, Özsaran, Zeynep, Kapkaç, Murat, Özkınay, Ferda
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Sprache:eng
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Zusammenfassung:•BRCA1/2 mutations detected nearly 10 percent of the patients who underwent testing.•Family history and age of diagnosis are the most important risk factors for BRCA1/2 mutation.•Sequencing analysis of large exons (BRCA1-exon 10, BRCA2-exon 11) could detect more than half of mutations.
ISSN:2210-7762
2210-7770
DOI:10.1016/j.cancergen.2019.12.008