Can I read Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing on EtoBox?

Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing by Eunhee Han; Jaeeun Yoo; Hyojin Chae; Seungok Lee; Do-Hoon Kim; Kwang Joong Kim; Yonggoo Kim; Myungshin Kim is a Medicine article available to read on EtoBox.

What is Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing about?

## Background: Germline mutations in brca1 and brca2 (brca1/2) have been conventionally analyzed by sanger sequencing and multiplex ligation-dependent probe amplification (mlpa). nowadays, next-generation sequencing (ngs) is increasingly being used in clinical genetics. the aim of this study was to evaluate the performance of ngs brca1/2 assays by comparing them with the conventional method. ## Materials and methods: We did brca1/2 ngs assays of 108 breast and/or ovarian cancer patients whose brca1/2 mutation had been previously analyzed by sanger sequencing and mlpa using truseq custom amplicon design afp2. single-nucleotide variations (snvs) and small insertions or deletions (indels) were evaluated. in addition, we analyzed large genomic rearrangements (lgrs) using a coverage-based algorithm as well as a revised brca1/2 ngs assay (brcaaccutest plus), which additionally covered a brca1 promoter region. ## Results: The ngs brca1/2 assay detected all 20 snvs and 21 small indels in 56 patients. among seven lgrs detected by mlpa, six exonic lgrs were well identified by both ngs brca1/2 assays. one pathogenic lgr, located on a brca1 promoter region, was successfully identified using re

Who reads Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing?

Author

Eunhee Han; Jaeeun Yoo; Hyojin Chae; Seungok Lee; Do-Hoon Kim; Kwang Joong Kim; Yonggoo Kim; Myungshin Kim

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0009-8981)

Published

2020

Language

EN

Field

Medicine (Health Sciences)