Selected Publications:
BRCA1 Circos: a visualisation resource for functional analysis of missense variants, Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. PMID: 25643705.
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC; BIC Steering Committee. NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018. PMID: 29479477
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation, Monteiro AN, Bouwman P, Kousholt AN, Eccles DM, Millot GA, Masson JY, Schmidt MK, Sharan SK, Scully R, Wiesmüller L, Couch F, Vreeswijk MPG. J Med Genet. 2020 Aug;57(8):509-518. doi: 10.1136/jmedgenet-2019-106368. Epub 2020 Mar 9. PMID: 32152249
RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers, Biswas K, Sharan SK. Mol Oncol. 2020 Jun;14(6):1121-1123. doi: 10.1002/1878-0261.12679. Epub 2020 Apr 21. PMID: 32255263
Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay, Sirisena N, Biswas K, Sullivan T, Stauffer S, Cleveland L, Southon E, Dissanayake VHW, Sharan SK. Breast Cancer Res. 2020 May 11;22(1):43. doi: 10.1186/s13058-020-01272-z. PMID: 32393398
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System, Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léoné M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A. Cancer Res. 2020 Sep 1;80(17):3593-3605. doi: 10.1158/0008-5472.CAN-20-0895. Epub 2020 Jul 8. PMID: 32641407
Bypass of premature stop codons and generation of functional BRCA2 by exon skipping, Stauffer S, Biswas K, Sharan SK. J Hum Genet. 2020 Sep;65(9):805-809. doi: 10.1038/s10038-020-0768-0. Epub 2020 May 11. PMID: 32393813
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer, Sullivan T, Thirthagiri E, Chong CE, Stauffer S, Reid S, Southon E, Hassan T, Ravichandran A, Wijaya E, Lim J, Taib NAM, Fadzli F, Yip CH, Hartman M, Li J, van Dam RM, North SL, Das R, Easton DF, Biswas K, Teo SH, Sharan SK; SGBCC Investigators; MYBRCA Investigators. Hum Mutat. 2020 Dec 13. doi: 10.1002/humu.24154. PMID: 33314489
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays, Biswas K, Lipton GB, Stauffer S, Sullivan T, Cleveland L, Southon E, Reid S, Magidson V, Iversen ES Jr, Sharan SK. NPJ Genom Med. 2020 Dec 8;5(1):52. doi: 10.1038/s41525-020-00158-5. PMID: 33293522