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Page 1
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze P, Sebra R, Riaz M, Tiller J, Revote J, Phung J, Parker EJ, Orchard SG, Lockery JE, Wolfe R, Strahl M, Wang YC, Chen R, Sisco D, Arnold T, Thompson BA, Buchanan DD, Macrae FA, James PA, Abhayaratna WP, Lockett TJ, Gibbs P, Tonkin AM, Nelson MR, Reid CM, Woods RL, Murray AM, Winship I, McNeil JJ, Schadt E. Lacaze P, et al. Among authors: james pa. Genet Med. 2020 Nov;22(11):1883-1886. doi: 10.1038/s41436-020-0881-7. Epub 2020 Jul 1. Genet Med. 2020. PMID: 32606442 Free PMC article.
A role for common genomic variants in the assessment of familial breast cancer.
Sawyer S, Mitchell G, McKinley J, Chenevix-Trench G, Beesley J, Chen XQ, Bowtell D, Trainer AH, Harris M, Lindeman GJ, James PA. Sawyer S, et al. Among authors: james pa. J Clin Oncol. 2012 Dec 10;30(35):4330-6. doi: 10.1200/JCO.2012.41.7469. Epub 2012 Oct 29. J Clin Oncol. 2012. PMID: 23109704
Cancer risks for MLH1 and MSH2 mutation carriers.
Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, Antill YC, Thibodeau SN, Casey G, Gallinger S, Marchand LL, Newcomb PA, Haile RW, Young GP, James PA, Giles GG, Gunawardena SR, Leggett BA, Gattas M, Boussioutas A, Ahnen DJ, Baron JA, Parry S, Goldblatt J, Young JP, Hopper JL, Jenkins MA. Dowty JG, et al. Among authors: james pa. Hum Mutat. 2013 Mar;34(3):490-7. doi: 10.1002/humu.22262. Hum Mutat. 2013. PMID: 23255516 Free PMC article.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE; Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators; Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry; Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON; Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Sim… See abstract for full author list ➔ Kuchenbaecker KB, et al. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581431 Free PMC article.
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
Zentner D, Thompson TN, James PA, Trainer A, Adès LC, Macciocca I, Taylor JA, Mann K, Bogwitz M, Lewis N, Morgan N, Vohra J, Winship I. Zentner D, et al. Among authors: james pa. Med J Aust. 2015 Sep 21;203(6):261.e1-6. doi: 10.5694/mja14.01674. Med J Aust. 2015. PMID: 26377294
"Cancer 2015": A Prospective, Population-Based Cancer Cohort-Phase 1: Feasibility of Genomics-Guided Precision Medicine in the Clinic.
Parisot JP, Thorne H, Fellowes A, Doig K, Lucas M, McNeil JJ, Doble B, Dobrovic A, John T, James PA, Lipton L, Ashley D, Hayes T, McMurrick P, Richardson G, Lorgelly P, Fox SB, Thomas DM. Parisot JP, et al. Among authors: james pa. J Pers Med. 2015 Oct 29;5(4):354-69. doi: 10.3390/jpm5040354. J Pers Med. 2015. PMID: 26529019 Free PMC article.
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group; Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators; Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators; Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators; Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlin… See abstract for full author list ➔ Easton DF, et al. Among authors: james pa. J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26. J Med Genet. 2016. PMID: 26921362 Free PMC article.
Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.
Li H, Feng B, Miron A, Chen X, Beesley J, Bimeh E, Barrowdale D, John EM, Daly MB, Andrulis IL, Buys SS, Kraft P; kConFab investigators; Thorne H, Chenevix-Trench G, Southey MC, Antoniou AC, James PA, Terry MB, Phillips KA, Hopper JL, Mitchell G, Goldgar DE. Li H, et al. Among authors: james pa. Genet Med. 2017 Jan;19(1):30-35. doi: 10.1038/gim.2016.43. Epub 2016 May 12. Genet Med. 2017. PMID: 27171545 Free PMC article.
279 results