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Page 1
Germline copy number variants and endometrial cancer risk.
Stylianou CE, Wiggins GAR, Lau VL, Dennis J, Shelling AN, Wilson M, Sykes P, Amant F, Annibali D, De Wispelaere W, Easton DF, Fasching PA, Glubb DM, Goode EL, Lambrechts D, Pharoah PDP, Scott RJ, Tham E, Tomlinson I, Bolla MK, Couch FJ, Czene K, Dörk T, Dunning AM, Fletcher O, García-Closas M, Hoppe R; ABCTB Investigators; Jernström H, Kaaks R, Michailidou K, Obi N, Southey MC, Stone J, Wang Q, Spurdle AB, O'Mara TA, Pearson J, Walker LC. Stylianou CE, et al. Among authors: pearson j. Hum Genet. 2024 Dec;143(12):1481-1498. doi: 10.1007/s00439-024-02707-9. Epub 2024 Nov 4. Hum Genet. 2024. PMID: 39495297 Free PMC article.
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
Moir-Meyer GL, Pearson JF, Lose F; Australian National Endometrial Cancer Study Group; Scott RJ, McEvoy M, Attia J, Holliday EG; Hunter Community Study; Studies of Epidemiology and Risk Factors in Cancer Heredity; Pharoah PD, Dunning AM, Thompson DJ, Easton DF, Spurdle AB, Walker LC. Moir-Meyer GL, et al. Among authors: pearson jf. Hum Genet. 2015 Mar;134(3):269-78. doi: 10.1007/s00439-014-1507-4. Epub 2014 Nov 9. Hum Genet. 2015. PMID: 25381466
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR; Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE; Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators; Isaacs C, Peshkin BN, Caldes T, Hogervorst FB; HEBON; Lazaro C, Jakubowska A, Montagna M; KConFab Investigators; Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. Walker LC, et al. Among authors: pearson jf. Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1. Eur J Hum Genet. 2017. PMID: 28145423 Free PMC article.
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC, Marquart L, Pearson JF, Wiggins GAR, O'Mara TA, Parsons MT; BCFR; Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE; Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators; Isaacs C, Peshkin BN, Caldes T, Hogervorst FBL; HEBON; Lazaro C, Jakubowska A, Montagna M; KConFab Investigators; Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. Walker LC, et al. Among authors: pearson jf. Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1. Eur J Hum Genet. 2019. PMID: 30135485 Free PMC article.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Me… See abstract for full author list ➔ Hakkaart C, et al. Among authors: pearson jf. Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6. Commun Biol. 2022. PMID: 36203093 Free PMC article.
3,479 results