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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ. Hu C, et al. Among authors: pesaran t. Am J Hum Genet. 2024 Mar 7;111(3):584-593. doi: 10.1016/j.ajhg.2024.02.002. Epub 2024 Feb 27. Am J Hum Genet. 2024. PMID: 38417439
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: pesaran t. Am J Hum Genet. 2021 Mar 4;108(3):458-468. doi: 10.1016/j.ajhg.2021.02.005. Epub 2021 Feb 19. Am J Hum Genet. 2021. PMID: 33609447 Free PMC article.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS. LaDuca H, et al. Among authors: pesaran t. Genet Med. 2020 Feb;22(2):407-415. doi: 10.1038/s41436-019-0633-8. Epub 2019 Aug 13. Genet Med. 2020. PMID: 31406321 Free PMC article.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE. Li H, et al. Among authors: pesaran t. Genet Med. 2020 Apr;22(4):701-708. doi: 10.1038/s41436-019-0729-1. Epub 2019 Dec 19. Genet Med. 2020. PMID: 31853058 Free PMC article.
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ. Boddicker NJ, et al. Among authors: pesaran t. J Clin Oncol. 2021 Nov 1;39(31):3430-3440. doi: 10.1200/JCO.21.00531. Epub 2021 Jul 22. J Clin Oncol. 2021. PMID: 34292776 Free PMC article.
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ. Yadav S, et al. Among authors: pesaran t. J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21. J Clin Oncol. 2021. PMID: 34672684 Free PMC article.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM. Fayer S, et al. Among authors: pesaran t. Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17. Am J Hum Genet. 2021. PMID: 34793697 Free PMC article.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Hu C, et al. Among authors: pesaran t. Cancer Res. 2023 Aug 1;83(15):2557-2571. doi: 10.1158/0008-5472.CAN-22-2319. Cancer Res. 2023. PMID: 37253112 Free PMC article.
66 results