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Items: 1 to 20 of 191

1.

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
2.

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
3.

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.

4.

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
5.

Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.

Zauber NP, Sabbath-Solitare M, Marotta S, Zauber AG, Foulkes W, Chan M, Turner F, Bishop DT.

Cancer. 2005 Aug 15;104(4):719-29.

6.

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.

7.

Genetic analyses in consecutive israeli jewish colorectal cancer patients.

Fidder HH, Figer A, Geva R, Flex D, Schayek H, Avidan B, Meir SB, Friedman E.

Am J Gastroenterol. 2005 Jun;100(6):1376-80.

PMID:
15929773
8.

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

Toledano H, Goldberg Y, Kedar-Barnes I, Baris H, Porat RM, Shochat C, Bercovich D, Pikarsky E, Lerer I, Yaniv I, Abeliovich D, Peretz T.

Fam Cancer. 2009;8(3):187-94. doi: 10.1007/s10689-008-9227-3. Epub 2008 Dec 20.

PMID:
19101824
9.

Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.

Guillem JG, Glogowski E, Moore HG, Nafa K, Markowitz AJ, Shia J, Offit K, Ellis NA.

Ann Surg. 2007 Apr;245(4):560-5.

10.

Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation.

Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS.

Dis Colon Rectum. 2002 Sep;45(9):1223-32.

PMID:
12352241
11.

Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote.

Uhrhammer N, Bignon YJ.

Int J Colorectal Dis. 2008 Nov;23(11):1131-5. doi: 10.1007/s00384-008-0526-9. Epub 2008 Jul 16.

PMID:
18629513
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
13.

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
14.

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

Morak M, Laner A, Scholz M, Madorf T, Holinski-Feder E.

Eur J Gastroenterol Hepatol. 2008 Nov;20(11):1101-5. doi: 10.1097/MEG.0b013e328305e185.

PMID:
19047842
15.

A novel MSH2 germline mutation in a Druze HNPCC family.

Zidan J, Niessen RC, Laitman Y, Rozeveld D, Hofstra RM, Friedman E.

Fam Cancer. 2008;7(2):135-9. Epub 2007 Jul 29.

PMID:
17661183
16.

The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds.

Petrukhin L, Dangel J, Vanderveer L, Costalas J, Bellacosa A, Grana G, Daly M, Godwin AK.

Cancer Res. 1997 Dec 15;57(24):5480-4.

17.

[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].

Li TG, Liu XP, Zheng D, Sun JC, Li J, Tan ZP, Qin ZQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):227-9. Chinese.

PMID:
17407090
18.

APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

Stern HS, Viertelhausen S, Hunter AG, O'Rourke K, Cappelli M, Perras H, Serfas K, Blumenthall A, Dewar D, Baumann E, Lagarde AE.

Gastroenterology. 2001 Feb;120(2):392-400.

PMID:
11159880
19.

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G.

Clin Genet. 2007 Feb;71(2):130-9.

PMID:
17250661
20.

[Recognising hereditary non-polyposis colorectal cancer without a clear family history].

de Bruin JH, Nagengast FM, Ligtenberg MJ, van Krieken JH, Niermeijer MF, Hoogerbrugge N.

Ned Tijdschr Geneeskd. 2004 Oct 16;148(42):2053-7. Dutch.

PMID:
15532325

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