Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women. L Dorling, S Carvalho, J Allen, A González-Neira, C Luccarini, ... The New England Journal of Medicine, 2021 | 726 | 2021 |
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for … MT Parsons, DD Buchanan, B Thompson, JP Young, AB Spurdle Journal of medical genetics 49 (3), 151-157, 2012 | 367 | 2012 |
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, ... Nature genetics 52 (6), 572-581, 2020 | 354 | 2020 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ... Human mutation 39 (5), 593-620, 2018 | 314 | 2018 |
Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for … DD Buchanan, YY Tan, MD Walsh, M Clendenning, AM Metcalf, ... Journal of Clinical Oncology 32 (2), 90-100, 2014 | 252 | 2014 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls Y Momozawa, Y Iwasaki, MT Parsons, Y Kamatani, A Takahashi, ... Nature communications 9 (1), 4083, 2018 | 239 | 2018 |
BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance DM Eccles, G Mitchell, ANA Monteiro, R Schmutzler, FJ Couch, ... Annals of oncology 26 (10), 2057-2065, 2015 | 222 | 2015 |
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 MS Cline, RG Liao, MT Parsons, B Paten, F Alquaddoomi, A Antoniou, ... PLoS genetics 14 (12), e1007752, 2018 | 207 | 2018 |
Cancer risks associated with BRCA1 and BRCA2 pathogenic variants S Li, V Silvestri, G Leslie, TR Rebbeck, SL Neuhausen, JL Hopper, ... Journal of Clinical Oncology 40 (14), 1529, 2022 | 182 | 2022 |
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes L Fachal, H Aschard, J Beesley, DR Barnes, J Allen, S Kar, KA Pooley, ... Nature genetics 52 (1), 56-73, 2020 | 172 | 2020 |
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and … AB Spurdle, FJ Couch, MT Parsons, L McGuffog, D Barrowdale, MK Bolla, ... Breast Cancer Research 16, 1-16, 2014 | 135 | 2014 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 132 | 2019 |
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, ... Nature communications 10 (1), 1741, 2019 | 132 | 2019 |
Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants Y Momozawa, R Sasai, Y Usui, K Shiraishi, Y Iwasaki, Y Taniyama, ... JAMA oncology 8 (6), 871-878, 2022 | 130 | 2022 |
Shared heritability and functional enrichment across six solid cancers X Jiang, HK Finucane, FR Schumacher, SL Schmit, JP Tyrer, Y Han, ... Nature communications 10 (1), 431, 2019 | 124 | 2019 |
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ... Genetics in Medicine 22 (10), 1653-1666, 2020 | 112 | 2020 |
Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant … M de la Hoya, O Soukarieh, I López-Perolio, A Vega, LC Walker, ... Human molecular genetics 25 (11), 2256-2268, 2016 | 99 | 2016 |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the … BA Thompson, DE Goldgar, C Paterson, M Clendenning, R Walters, ... Human mutation 34 (1), 200-209, 2013 | 97 | 2013 |
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort R Leman, P Gaildrat, G Le Gac, C Ka, Y Fichou, MP Audrezet, ... Nucleic acids research 46 (15), 7913-7923, 2018 | 91 | 2018 |
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ... The American Journal of Human Genetics 110 (7), 1046-1067, 2023 | 70 | 2023 |