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Results: 1 to 20 of 725

1.

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.

Am J Hum Genet. 2002 Dec;71(6):1395-412. Epub 2002 Nov 26.

PMID:
12454801
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A636P is associated with early-onset colon cancer in Ashkenazi Jews.

Guillem JG, Rapaport BS, Kirchhoff T, Kolachana P, Nafa K, Glogowski E, Finch R, Huang H, Foulkes WD, Markowitz A, Ellis NA, Offit K.

J Am Coll Surg. 2003 Feb;196(2):222-5.

PMID:
12595050
[PubMed - indexed for MEDLINE]
3.

[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].

Czakó L, Tiszlavicz L, Takács R, Baradnay G, Lonovics J, Cserni G, Závodná K, Bartosova Z.

Orv Hetil. 2005 May 15;146(20):1009-16. Hungarian.

PMID:
15945244
[PubMed - indexed for MEDLINE]
4.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100. Epub 2003 Mar 25.

PMID:
12658575
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.

Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER.

J Med Genet. 1999 Feb;36(2):97-102.

PMID:
10051005
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer.

Bapat BV, Madlensky L, Temple LK, Hiruki T, Redston M, Baron DL, Xia L, Marcus VA, Soravia C, Mitri A, Shen W, Gryfe R, Berk T, Chodirker BN, Cohen Z, Gallinger S.

Hum Genet. 1999 Feb;104(2):167-76.

PMID:
10190329
[PubMed - indexed for MEDLINE]
7.

Gynecologic malignancies in Ashkenazi families with the MSH2 A636P founder mutation.

Lavie O, Gruber SB, Lejbkowicz F, Dishon S, Rennert G.

Am J Obstet Gynecol. 2008 Aug;199(2):148.e1-3. doi: 10.1016/j.ajog.2008.02.018.

PMID:
18674656
[PubMed - indexed for MEDLINE]
8.

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

Sun S, Greenwood CM, Thiffault I, Hamel N, Chong G, Foulkes WD.

J Med Genet. 2005 Oct;42(10):766-8.

PMID:
16199548
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.

Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, de la Chapelle A.

JAMA. 2004 Feb 11;291(6):718-24.

PMID:
14871915
[PubMed - indexed for MEDLINE]
10.

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

Caldes T, Godino J, de la Hoya M, Garcia Carbonero I, Perez Segura P, Eng C, Benito M, Diaz-Rubio E.

Int J Cancer. 2002 Apr 10;98(5):774-9.

PMID:
11920650
[PubMed - indexed for MEDLINE]
11.

Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

Pucciarelli S, Agostini M, Viel A, Bertorelle R, Russo V, Toppan P, Lise M.

Dis Colon Rectum. 2003 Mar;46(3):305-12.

PMID:
12626904
[PubMed - indexed for MEDLINE]
12.

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, Hubert A, Strul H, Kariiv R, Ben-Avi L, Savion M, Pikarsky E, Abeliovich D, Bercovich D, Lerer I, Peretz T.

Fam Cancer. 2010 Jun;9(2):141-50. doi: 10.1007/s10689-009-9298-9.

PMID:
19851887
[PubMed - indexed for MEDLINE]
13.

The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.

Laitman Y, Herskovitz L, Golan T, Kaufman B, Paluch SS, Friedman E.

Fam Cancer. 2012 Jun;11(2):243-7. doi: 10.1007/s10689-011-9507-1.

PMID:
22219001
[PubMed - indexed for MEDLINE]
14.

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

Berends MJ, Wu Y, Sijmons RH, van der Sluis T, Ek WB, Ligtenberg MJ, Arts NJ, ten Hoor KA, Kleibeuker JH, de Vries EG, Mourits MJ, Hollema H, Buys CH, Hofstra RM, van der Zee AG.

J Clin Oncol. 2003 Dec 1;21(23):4364-70.

PMID:
14645426
[PubMed - indexed for MEDLINE]
15.

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK.

J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13.

PMID:
15483016
[PubMed - indexed for MEDLINE]
16.

Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.

Banno K, Susumu N, Hirao T, Yanokura M, Hirasawa A, Aoki D, Udagawa Y, Sugano K, Nozawa S.

Cancer Genet Cytogenet. 2003 Oct 1;146(1):58-65.

PMID:
14499697
[PubMed - indexed for MEDLINE]
17.

The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect.

Shtoyerman-Chen R, Friedman E, Figer A, Carmel M, Patael Y, Rath P, Fidder HH, Bar-Meir S, Theodor L.

Genet Test. 2001 Summer;5(2):141-6.

PMID:
11551102
[PubMed - indexed for MEDLINE]
18.

A636P testing in Ashkenazi Jews.

Guillem JG, Moore HG, Palmer C, Glogowski E, Finch R, Nafa K, Markowitz AJ, Offit K, Ellis NA.

Fam Cancer. 2004;3(3-4):223-7. Review.

PMID:
15516845
[PubMed - indexed for MEDLINE]
19.

Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications.

Bonis PA, Trikalinos TA, Chung M, Chew P, Ip S, DeVine DA, Lau J.

Evid Rep Technol Assess (Full Rep). 2007 May;(150):1-180. Review.

PMID:
17764220
[PubMed - indexed for MEDLINE]
Free Article
20.

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

JAMA. 2005 Apr 27;293(16):1986-94.

PMID:
15855432
[PubMed - indexed for MEDLINE]

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