Selected Publications:

  1. Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Sergey G Kuznetsov, Pentao Liu, Shyam K Sharan; Nat Med. 2008 Aug;14(8):875-81. doi: 10.1038/nm.1719. Epub 2008 Jul 6, PMID: 18607349

  2. Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.     Li L, Biswas K, Habib LA, Kuznetsov SG, Hamel N, Kirchhoff T, Wong N, Armel S, Chong G, Narod SA, Claes K, Offit K, Robson ME, Stauffer S, Sharan SK, Foulkes WD; Hum Mutat. 2009 Nov;30(11):1543-50. doi: 10.1002/humu.21101.PMID: 19795481 

  3. Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations. Suhwan Chang, Kajal Biswas, Betty K Martin, Stacey Stauffer, Shyam K Sharan; J Clin Invest. 2009 Oct;119(10):3160-71. doi: 10.1172/JCI39836. Epub 2009 Sep 21., PMID: 19770520

  4. Functional analysis of human BRCA2 variants using a mouse embryonic stem cell-based assay. Sergey G Kuznetsov 1, Suhwan Chang, Shyam K Sharan; Methods Mol Biol. 2010;653:259-80. doi: 10.1007/978-1-60761-759-4_16. PMID: 20721749

  5. A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. Kajal Biswas 1, Ranabir Das, Blanche P Alter, Sergey G Kuznetsov, Stacey Stauffer, Susan L North, Sandra Burkett, Lawrence C Brody, Stefan Meyer, R Andrew Byrd, Shyam K Sharan;
    Blood. 2011 Sep 1;118(9):2430-42.doi: 10.1182/blood-2010-12-324541. PMID: 21719596

  6. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. Suhwan Chang 1, Rui-Hong Wang, Keiko Akagi, Kyung-Ae Kim, Betty K Martin, Luca Cavallone; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Diana C Haines, Mark Basik, Phuong Mai, Elizabeth Poggi, Claudine Isaacs, Lai M Looi, Kein S Mun, Mark H Greene, Stephen W Byers, Soo H Teo, Chu-Xia Deng, Shyam K Sharan. Nat Med. 2011 Sep 25;17(10):1275-82.doi: 10.1038/nm.2459. PMID: 21946536

  7. A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics. Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.; Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505. Epub 2014 Feb 15. PMID: 24395671

  8. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. Kajal Biswas 1, Ranabir Das, Julie M Eggington, Huanyu Qiao, Susan L North, Stacey Stauffer, Sandra S Burkett, Betty K Martin, Eileen Southon, Scott C Sizemore, Dmitry Pruss, Karla R Bowles, Benjamin B Roa, Neil Hunter, Lino Tessarollo, Richard J Wenstrup, R Andrew Byrd, Shyam K Sharan; Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7. PMID: 22678057

  9. An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. Giel Hendriks 1, Bruno Morolli, Fabienne M G R Calléja, Anouk Plomp, Romy L S Mesman, Matty Meijers, Shyam K Sharan, Maaike P G Vreeswijk, Harry Vrieling; Hum Mutat . 2014 Nov;35(11):1382-91. doi:10.1002/humu.22678. Epub 2014 Sep 11. PMID: 25146914

  10. 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.

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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
Last updated by Hanson, Iben (NIH/NCI) [E] on Jan 22, 2021