Associated Papers
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
Poon KS et al.
Global Medical Genetics, 2021
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
30702160 (PubMed )
Supplement: IJC-145-962-s007.xlsx › CIMBA
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Watson CM et al.
Molecular Diagnosis & Therapy, 2017
Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D et al.
Plos One, 2017
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
Enyedi et al.
Oncotarget, 2016
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.
Strom CM et al.
Plos One, 2015
Familial breast cancer genetic testing in the West of Ireland.
McVeigh TP et al.
Irish Journal of Medical Science, 2014
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
Castro E et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
Ramus SJ et al.
Human Mutation, 2007
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