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Items: 1 to 20 of 293

2.

Mutations predisposing to hereditary nonpolyposis colorectal cancer.

Peltomäki P, de la Chapelle A.

Adv Cancer Res. 1997;71:93-119. Review.

PMID:
9111864
3.
4.

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).

van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Möslein G, Fodde R.

Genes Chromosomes Cancer. 2005 Oct;44(2):123-38.

PMID:
15942939
5.

Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Møller P, Fodde R.

N Engl J Med. 1998 Aug 20;339(8):511-8.

6.

Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.

Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.

Int J Colorectal Dis. 2009 Aug;24(8):885-93. doi: 10.1007/s00384-009-0731-1. Epub 2009 May 29.

PMID:
19479271
7.

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

Park JG, Kim DW, Hong CW, Nam BH, Shin YK, Hong SH, Kim IJ, Lim SB, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Möeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J; International Society for Gastrointestinal Hereditary Tumours..

Clin Cancer Res. 2006 Jun 1;12(11 Pt 1):3389-93.

8.

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Bröcker-Vriends AH, Vasen HF, Wijnen JT.

Gastroenterology. 2006 Feb;130(2):312-22.

PMID:
16472587
9.

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

Lage PA, Albuquerque C, Sousa RG, Cravo ML, Salazar M, Francisco I, Maia L, Claro I, Suspiro A, Rodrigues P, Raposo H, Fidalgo PA, Nobre-Leitão C.

Cancer. 2004 Jul 1;101(1):172-7.

10.

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D'Urso M, Venuta S, Jiricny J.

Genes Chromosomes Cancer. 2002 Feb;33(2):160-7.

PMID:
11793442
12.

Molecular basis of HNPCC: mutations of MMR genes.

Papadopoulos N, Lindblom A.

Hum Mutat. 1997;10(2):89-99. Review.

PMID:
9259192
13.

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
14.

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A.

Hum Genet. 1999 Jul-Aug;105(1-2):79-85.

PMID:
10480359
15.

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

Viel A, Genuardi M, Capozzi E, Leonardi F, Bellacosa A, Paravatou-Petsotas M, Pomponi MG, Fornasarig M, Percesepe A, Roncucci L, Tamassia MG, Benatti P, Ponz de Leon M, Valenti A, Covino M, Anti M, Foletto M, Boiocchi M, Neri G.

Genes Chromosomes Cancer. 1997 Jan;18(1):8-18.

PMID:
8993976
16.

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.

17.

Etiology, natural history, management and molecular genetics of hereditary nonpolyposis colorectal cancer (Lynch syndromes): genetic counseling implications.

Lynch HT, Lemon SJ, Karr B, Franklin B, Lynch JF, Watson P, Tinley S, Lerman C, Carter C.

Cancer Epidemiol Biomarkers Prev. 1997 Dec;6(12):987-91.

18.

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online.

Holmberg M, Kristo P, Chadwicks RB, Mecklin JP, Järvinen H, de la Chapelle A, Nyström-Lahti M, Peltomäki P.

Hum Mutat. 1998;11(6):482.

PMID:
10200055
19.

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.

Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E.

Int J Cancer. 2003 Feb 20;103(5):636-41.

20.

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer.

Caluseriu O, Cordisco EL, Viel A, Majore S, Nascimbeni R, Pucciarelli S, Genuardi M.

Hum Mutat. 2001 Jun;17(6):521.

PMID:
11385712

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