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The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: weitzel jn. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
Cullinane CA, Lubinski J, Neuhausen SL, Ghadirian P, Lynch HT, Isaacs C, Weber B, Moller P, Offit K, Kim-Sing C, Friedman E, Randall S, Pasini B, Ainsworth P, Gershoni-Baruch R, Foulkes WD, Klijn J, Tung N, Rennert G, Olopade O, Couch F, Wagner T, Olsson H, Sun P, Weitzel JN, Narod SA. Cullinane CA, et al. Among authors: weitzel jn. Int J Cancer. 2005 Dec 20;117(6):988-91. doi: 10.1002/ijc.21273. Int J Cancer. 2005. PMID: 15986445 Free article.
Rapid progression of prostate cancer in men with a BRCA2 mutation.
Narod SA, Neuhausen S, Vichodez G, Armel S, Lynch HT, Ghadirian P, Cummings S, Olopade O, Stoppa-Lyonnet D, Couch F, Wagner T, Warner E, Foulkes WD, Saal H, Weitzel J, Tulman A, Poll A, Nam R, Sun P; Hereditary Breast Cancer Study Group; Danquah J, Domchek S, Tung N, Ainsworth P, Horsman D, Kim-Sing C, Maugard C, Eisen A, Daly M, McKinnon W, Wood M, Isaacs C, Gilchrist D, Karlan B, Nedelcu R, Meschino W, Garber J, Pasini B, Manoukian S, Bellati C. Narod SA, et al. Br J Cancer. 2008 Jul 22;99(2):371-4. doi: 10.1038/sj.bjc.6604453. Epub 2008 Jun 24. Br J Cancer. 2008. PMID: 18577985 Free PMC article.
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS; HEBON; Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E; kConFab; Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network; Toland AE, Caligo MA; SWE-BRCA; Beattie MS, Chan S; UKFOCR; Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U; EMBRACE; Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y,… See abstract for full author list ➔ Im KM, et al. Among authors: weitzel jn. Hum Genet. 2011 Nov;130(5):685-99. doi: 10.1007/s00439-011-1003-z. Epub 2011 May 20. Hum Genet. 2011. PMID: 21597964 Free PMC article.
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E. Laitman Y, et al. Among authors: weitzel jn. Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4. Eur J Hum Genet. 2013. PMID: 22763381 Free PMC article.
Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study.
Phelan CM, Iqbal J, Lynch HT, Lubinski J, Gronwald J, Moller P, Ghadirian P, Foulkes WD, Armel S, Eisen A, Neuhausen SL, Senter L, Singer CF, Ainsworth P, Kim-Sing C, Tung N, Llacuachaqui M, Chornokur G, Ping S, Narod SA; Hereditary Breast Cancer Study Group. Phelan CM, et al. Br J Cancer. 2014 Jan 21;110(2):530-4. doi: 10.1038/bjc.2013.741. Epub 2013 Nov 28. Br J Cancer. 2014. PMID: 24292448 Free PMC article.
PMS2 monoallelic mutation carriers: the known unknown.
Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. Goodenberger ML, et al. Among authors: weitzel jn. Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Genet Med. 2016. PMID: 25856668 Free PMC article. Review.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS; Breast Cancer Family Registry; Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE; Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study Collaborators; Dreyf… See abstract for full author list ➔ Blein S, et al. Among authors: weitzel jn. Breast Cancer Res. 2015 Apr 25;17(1):61. doi: 10.1186/s13058-015-0567-2. Breast Cancer Res. 2015. PMID: 25925750 Free PMC article.
248 results