[HTML][HTML] Clinical use and mechanisms of resistance for PARP inhibitors in homologous recombination-deficient cancers

DC Janysek, J Kim, A Mikheikin, A Olsen, K Leslie, F Russell-Pavier… - Nature …, 2017 - nature.com
Progress in whole-genome sequencing using short-read (eg,< 150 bp), next-generation
sequencing technologies has reinvigorated interest in high-resolution physical map** to …

[HTML][HTML] Next-Generation Sequencing–Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow

AY Schmidt, T vO Hansen, LB Ahlborn, L Jønson… - The Journal of Molecular …, 2017 - Elsevier
Genetic testing of BRCA1/2 includes screening for single nucleotide variants and small
insertions/deletions and for larger copy number variations (CNVs), primarily by Sanger …

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

WM Cao, YB Zheng, Y Gao, XW Ding, Y Sun, Y Huang… - BMC cancer, 2019 - Springer
Background Mutated BRCA1/2 genes are associated with hereditary breast and ovarian
cancer (HBOC). So far most of the identified BRCA1/2 pathogenic variants are single …

[HTML][HTML] Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

A Germani, F Libi, S Maggi, G Stanzani, A Lombardi… - Oncotarget, 2018 - ncbi.nlm.nih.gov
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM# 600185) genes is essential
for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost …