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Article

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

BMC medical genomics - 7 May 2015

Kluska Anna, Balabas Aneta, Paziewska Agnieszka, Kulecka Maria, Nowakowska Dorota, Mikula Michal, Ostrowski Jerzy

Abstract excerpt

BACKGROUND: Targeted PCR-based genetic testing for BRCA1 and BRCA2 can be performed at a lower cost than full gene testing; however, it may overlook mutations responsible for familial breast and/or ovarian cancers. In the present study, we report the utility of next generation sequencing (NGS) to identify new pathogenic variants of BRCA1/2. METHODS: BRCA1 and BRCA2 exons were amplified using the Ion AmpliSeq...

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Identifiers

PMID: 25948282
DOI: 10.1186/s12920-015-0092-2
PMCID: PMC4429836

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BRCA1
BRCA2

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