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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Bojesen SE, Bolla MK, Brenner H, Brown MA, Buys SS, Canzian F, Caputo SM, Castelao JE, Chang-Claude J; GC-HBOC study Collaborators; Czene K, Daly MB, De Nicolo A, Devilee P, Dörk T, Dunning AM, Dwek M, Eccles DM, Engel C, Evans DG, Fasching PA, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Gentry-Maharaj A, Geurts-Giele WRR, Giles GG, Glendon G, Goldberg MS, Garcia EBG, Güendert M, Guénel P, Hahnen E, Haiman CA, Hall P, Hamann U, Harkness EF, Hogervorst FBL, Hollestelle A, Hoppe R, Hopper JL, Houdayer C, Houlston RS, Howell A; ABCTB Investigators; Jakimovska M, Jakubowska A, Jernström H, John EM, Kaaks R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Lacey JV, Lambrechts D, Léoné M, Lindblom A, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Menon U, Milne RL, Monteiro AN, Murphy RA, Neuhausen SL, Nevanlinna H, Newman WG, Offit K, Park SK, James P, Peterlongo P, Peto J, Plaseska-Karanfilska D, Punie K, Radice P, Rashid MU, Rennert G, Romero A, Rosenberg EH, Saloustros E, Sandler DP, Schmidt MK, Schmutzler… See abstract for full author list ➔ Zanti M, et al. Among authors: southey mc. Hum Mutat. 2023;2023:9961341. doi: 10.1155/2023/9961341. Epub 2023 Sep 14. Hum Mutat. 2023. PMID: 38725546 Free PMC article.
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses.
Li S, Dite GS, MacInnis RJ, Bui M, Nguyen TL, Esser VFC, Ye Z, Dowty JG, Makalic E, Sung J, Giles GG, Southey MC, Hopper JL. Li S, et al. Among authors: southey mc. Genet Epidemiol. 2024 Dec;48(8):401-413. doi: 10.1002/gepi.22556. Epub 2024 Mar 12. Genet Epidemiol. 2024. PMID: 38472646 Free PMC article.
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.
Davidson AL, Michailidou K, Parsons MT, Fortuno C, Bolla MK, Wang Q, Dennis J, Naven M, Abubakar M, Ahearn TU, Alonso MR, Andrulis IL, Antoniou AC, Auvinen P, Behrens S, Bermisheva MA, Bogdanova NV, Bojesen SE, Brüning T, Byers HJ, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Gronwald J, Guénel P, Hadjisavvas A, Haeberle L, Hall P, Hamann U, Hartman M, Ho PJ, Hooning MJ, Hoppe R, Howell A; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Kristensen VN, Li J, Lim J, Lindblom A, Liu J, Lophatananon A, Mannermaa A, Mavroudis DA, Mensenkamp AR, Milne RL, Muir KR, Newman WG, Obi N, Panayiotidis MI, Park SK, Park-Simon TW, Peterlongo P, Radice P, Rashid MU, Rhenius V, Saloustros E, Sawyer EJ, Schmidt MK, Seibold P, Shah M, Southey MC, Teo SH, Tomlinson I, Torres D, Truong T, van de Beek I, van der Hout AH, Wendt CC, Dunning AM, Pharoah PDP, Devilee P, Easton DF, James PA, Spurdle AB. Davidson AL, et al. Among authors: southey mc. Am J Hum Genet. 2024 Sep 5;111(9):2059-2069. doi: 10.1016/j.ajhg.2024.07.004. Epub 2024 Aug 2. Am J Hum Genet. 2024. PMID: 39096911
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283
Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk.
McDonald JA, Liao Y, Knight JA, John EM, Kurian AW, Daly M, Buys SS, Huang Y, Frost CJ, Andrulis IL, Colonna SV, Friedlander ML, Hopper JL, Chung WK, Genkinger JM, MacInnis RJ, Terry MB; Kathleen Cuningham Foundation Consortium investigators. McDonald JA, et al. JAMA Netw Open. 2024 Aug 1;7(8):e2427441. doi: 10.1001/jamanetworkopen.2024.27441. JAMA Netw Open. 2024. PMID: 39186276 Free article.
646 results