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Year Number of Results
2003 1
2004 2
2006 1
2007 1
2009 1
2010 6
2011 2
2012 2
2013 3
2014 1
2015 7
2016 5
2017 10
2018 9
2019 16
2020 17
2021 20
2022 9
2023 8
2024 1

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111 results

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Page 1
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. 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
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, Pesaran T, Lyra PCM, Karam R, Yadav S, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Boddicker N, Chen W, Richardson ME, Couch FJ. Huang H, et al. Among authors: hu c. bioRxiv [Preprint]. 2023 Dec 15:2023.12.14.571597. doi: 10.1101/2023.12.14.571597. bioRxiv. 2023. PMID: 38168194 Free PMC article. Preprint.
Polygenic Risk Score Modifies Prostate Cancer Risk of Pathogenic Variants in Men of African Ancestry.
Hughley RW, Matejcic M, Song Z, Sheng X, Wan P, Xia L, Hart SN, Hu C, Yadav S, Lubmawa A, Kiddu V, Asiimwe F, Amanya C, Mutema G, Job K, Ssebakumba MK, Ingles SA, Hamilton AS, Couch FJ, Watya S, Conti DV, Darst BF, Haiman CA. Hughley RW, et al. Among authors: hu c. Cancer Res Commun. 2023 Dec 14;3(12):2544-2550. doi: 10.1158/2767-9764.CRC-23-0022. Cancer Res Commun. 2023. PMID: 38014910 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: hu c. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 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. 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.
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ. Yadav S, et al. Among authors: hu c. J Clin Oncol. 2023 Mar 20;41(9):1703-1713. doi: 10.1200/JCO.22.01239. Epub 2023 Jan 9. J Clin Oncol. 2023. PMID: 36623243 Free PMC article.
111 results