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Evaluation of germline BMP4 mutation as a cause of colorectal cancer.

Lubbe SJ, Pittman AM, Matijssen C, Twiss P, Olver B, Lloyd A, Qureshi M, Brown N, Nye E, Stamp G, Blagg J, Houlston RS.

Hum Mutat. 2011 Jan;32(1):E1928-38. doi: 10.1002/humu.21376. Epub 2010 Oct 14.


A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair.

Boardman LA, Schmidt S, Lindor NM, Burgart LJ, Cunningham JM, Price-Troska T, Snow K, Ahlquist DA, Thibodeau SN.

Genes Chromosomes Cancer. 2001 Feb;30(2):181-6.


Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.

Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P.

Int J Colorectal Dis. 2011 Jul;26(7):841-6. doi: 10.1007/s00384-011-1172-1. Epub 2011 Mar 22.


Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

Niessen RC, Berends MJ, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJ, de Walle HE, de Vries EG, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH.

Gut. 2006 Dec;55(12):1781-8. Epub 2006 Apr 24.


Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.

Lipton L, Sieber OM, Thomas HJ, Hodgson SV, Tomlinson IP, Woodford-Richens K.

J Med Genet. 2003 Apr;40(4):e35. No abstract available.


EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.

Kokko A, Laiho P, Lehtonen R, Korja S, Carvajal-Carmona LG, Järvinen H, Mecklin JP, Eng C, Schleutker J, Tomlinson IP, Vahteristo P, Aaltonen LA.

BMC Cancer. 2006 Jun 1;6:145.


Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.

Hu F, Li D, Wang Y, Yao X, Zhang W, Liang J, Lin C, Ren J, Zhu L, Wu Z, Li S, Li Y, Zhao X, Cui B, Dong X, Tian S, Zhao Y.

PLoS One. 2013;8(4):e60233. doi: 10.1371/journal.pone.0060233. Epub 2013 Apr 3.


Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.

Cheah PY, Wong YH, Chau YP, Loi C, Lim KH, Lim JF, Koh PK, Eu KW.

Am J Gastroenterol. 2009 Dec;104(12):3027-33. doi: 10.1038/ajg.2009.542. Epub 2009 Sep 22.


Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ.

Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2. Review.


Simplifying the detection of MUTYH mutations by high resolution melting analysis.

López-Villar I, Ayala R, Wesselink J, Morillas JD, López E, Marín JC, Díaz-Tasende J, González S, Robles L, Martínez-López J.

BMC Cancer. 2010 Aug 5;10:408. doi: 10.1186/1471-2407-10-408.


Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families.

Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV, Talbot IC, Thomas HJ, Silver AJ, Tomlinson IP.

J Med Genet. 2005 Oct;42(10):756-62. Epub 2005 Mar 23.


Immunoassay for wild-type protein in lymphocytes predicts germline mutations in patients at risk for hereditary colorectal cancer.

Fields JZ, Gao Z, Gao Z, Lewis M, Maimonis P, Harvey J, Lynch HT, Boman BM.

J Lab Clin Med. 2004 Jan;143(1):59-66.


Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP.

N Engl J Med. 2003 Feb 27;348(9):791-9.


Activating mutation in MET oncogene in familial colorectal cancer.

Neklason DW, Done MW, Sargent NR, Schwartz AG, Anton-Culver H, Griffin CA, Ahnen DJ, Schildkraut JM, Tomlinson GE, Strong LC, Miller AR, Stopfer JE, Burt RW.

BMC Cancer. 2011 Oct 4;11:424. doi: 10.1186/1471-2407-11-424.


Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR).

Tram E, Ibrahim-Zada I, Briollais L, Knight JA, Andrulis IL, Ozcelik H.

Breast Cancer Res. 2011 Aug 11;13(4):R77. doi: 10.1186/bcr2926.


Association between family history and mismatch repair in colorectal cancer.

Coggins RP, Cawkwell L, Bell SM, Crockford GP, Quirke P, Finan PJ, Bishop DT.

Gut. 2005 May;54(5):636-42.


Novel germline APC variants in patients with multiple adenomas.

Pedemonte S, Sciallero S, Gismondi V, Stagnaro P, Biticchi R, Haeouaine A, Bonelli L, Nicolŏ G, Groden J, Bruzzi P, Aste H, Varesco L.

Genes Chromosomes Cancer. 1998 Aug;22(4):257-67.


Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Ealy M, Meyer NC, Corchado JC, Schrauwen I, Bress A, Pfister M, Van Camp G, Smith RJ.

Otol Neurotol. 2014 Mar;35(3):395-400. doi: 10.1097/MAO.0000000000000244.


Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.

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