A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.

Paola Concolino,Roberta Rizza,Flavio Mignone,Alessandra Costella,Donatella Guarino, Ilaria Carboni,Ettore Capoluongo,Concetta Santonocito,Andrea Urbani,Angelo Minucci

Clinica Chimica Acta（2018）

引用 35|浏览26

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摘要

•Detection of large rearrangements in BRCA1/2 genes.•An integrative NGS-based approach meeting the sensitivity and specificity requisites required in the BRCA1/2 LGRs detection•A robust and easy-to-use method for full BRCA1/2 screening

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关键词

Breast cancer,BRCA1/2,Large genomic rearrangements,Next generation sequencing,Mutations detection

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