Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model

Q Guo, S Ji, K Takeuchi, W Urasaki, A Suzuki… - Journal of Human …, 2023 - nature.com
Numerous variants of unknown significance (VUSs) exist in hereditary breast and ovarian
cancers. Although multiple methods have been developed to assess the significance of …

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

PJ Whiley, MT Parsons, J Leary, K Tucker, L Warwick… - PLoS …, 2014 - journals.plos.org
Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1
and BRCA2 are problematic for genetic counseling and clinical management of relevant …

Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines

MK So, TD Jeong, W Lim, BI Moon, NS Paik, SC Kim… - Breast Cancer, 2019 - Springer
Abstract Background Although BRCA1 or BRCA2 (BRCA1/2) genetic testing plays an
important role in determining treatment modalities in patients with hereditary breast and …

A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants

P Bouwman, H van der Gulden, I van der Heijden… - Cancer discovery, 2013 - AACR
Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian
cancers, and therefore sequence analysis of both genes is routinely conducted in patients …

validation and data-integration of yeast-based assays for functional classification of BRCA1 missense variants

F Bellè, A Mercatanti, S Lodovichi… - International Journal of …, 2022 - mdpi.com
Germline mutations in the BRCA1 gene have been reported to increase the lifetime risk of
developing breast and/or ovarian cancer (BOC). By new sequencing technologies …

In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing

KS Poon - Scientific Reports, 2021 - nature.com
Over the years since the genetic testing of BRCA1 and BRCA2 has been conducted for
research and later introduced into clinical practice, a high number of missense variants have …

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample

M Rodríguez-Balada, B Roig, L Martorell, M Melé… - Cancer genetics, 2016 - Elsevier
Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain
significance (VUS) is currently indispensable for providing effective genetic counseling and …

Assessment of the clinical relevance of BRCA2 missense variants by functional and computational approaches

L Guidugli, H Shimelis, DL Masica, VS Pankratz… - The American Journal of …, 2018 - cell.com
Many variants of uncertain significance (VUS) have been identified in BRCA2 through
clinical genetic testing. VUS pose a significant clinical challenge because the contribution of …

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

J Langerud, E Jarhelle, M Van Ghelue, SL Ariansen… - Human Genomics, 2018 - Springer
Background Deleterious variants in the tumour suppressor BRCA1 are known to cause
hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose …

DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment

AE Toland, PR Andreassen - Journal of Medical Genetics, 2017 - jmg.bmj.com
Mutation of BRCA1 and BRCA2 is the most common cause of inherited breast and ovarian
cancer. Genetic screens to detect carriers of variants can aid in cancer prevention by …