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Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: dowty jg. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
Rare variants in the ATM gene and risk of breast cancer.
Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM; BCFR; kConFab; Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G. Goldgar DE, et al. Among authors: dowty jg. Breast Cancer Res. 2011 Jul 25;13(4):R73. doi: 10.1186/bcr2919. Breast Cancer Res. 2011. PMID: 21787400 Free PMC article.
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: dowty jg. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 Free PMC article.
Risks of Lynch syndrome cancers for MSH6 mutation carriers.
Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH; Dutch Lynch Syndrome Study Group; Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA. Baglietto L, et al. Among authors: dowty jg. J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. doi: 10.1093/jnci/djp473. Epub 2009 Dec 22. J Natl Cancer Inst. 2010. PMID: 20028993 Free PMC article.
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, Southey MC, Burnett T, Parfrey PS, Green RC, Le Marchand L, Newcomb PA, Haile RW, Lindor NM, Hopper JL, Gallinger S, Jenkins MA. Win AK, et al. Among authors: dowty jg. Int J Cancer. 2011 Nov 1;129(9):2256-62. doi: 10.1002/ijc.25870. Epub 2011 Apr 8. Int J Cancer. 2011. PMID: 21171015 Free PMC article.
A PALB2 mutation associated with high risk of breast cancer.
Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L, Giles GG, Goldgar DE, Foulkes WD, Hopper JL; kConFab for the Beast Cancer Family Registry. Southey MC, et al. Among authors: dowty jg. Breast Cancer Res. 2010;12(6):R109. doi: 10.1186/bcr2796. Epub 2010 Dec 23. Breast Cancer Res. 2010. PMID: 21182766 Free PMC article.
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Cust AE, Harland M, Makalic E, Schmidt D, Dowty JG, Aitken JF, Agha-Hamilton C, Armstrong BK, Barrett JH, Chan M, Chang YM, Gascoyne J, Giles GG, Holland EA, Kefford RF, Kukalizch K, Lowery J, Randerson-Moor JA, Schmid H, Taylor CF, Whitaker L, Hopper JL, Newton-Bishop JA, Mann GJ, Bishop DT, Jenkins MA. Cust AE, et al. Among authors: dowty jg. J Med Genet. 2011 Apr;48(4):266-72. doi: 10.1136/jmg.2010.086538. Epub 2011 Feb 15. J Med Genet. 2011. PMID: 21325014 Free PMC article.
87 results