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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
cancer. Genetic screens to detect carriers of variants can aid in cancer prevention by …
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