Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.

BACKGROUND: The hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by germline mutations in mismatch repair genes and predisposes individuals to cancers of the colon and other specific sites. On theoretical grounds, it is expected that patients with HNPCC also develop more colorec...

Bibliografski detalji
Glavni autori:	Beck, N, Tomlinson, I, Homfray, T, Frayling, I, Hodgson, S, Bodmer, W
Format:	Journal article
Jezik:	English
Izdano:	1997

Slični predmeti

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.
od: Beck, N, i dr.
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Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
od: Beck, N, i dr.
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Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
od: Sieber, O, i dr.
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Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
od: Tomlinson, I, i dr.
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Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.
od: Frayling, I, i dr.
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A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation
od: Masahiro Zenitani, i dr.
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Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome.
od: Vickaryous, N, i dr.
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Germline epimutations of APC are not associated with inherited colorectal polyposis.
od: Hitchins, M, i dr.
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Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
od: Sieber, O, i dr.
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Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
od: Sieber, O, i dr.
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The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.
od: Hao, X, i dr.
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Defining the clinical phenotype of hereditary nonpolyposis colorectal cancer
od: Beck, N, i dr.
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Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome.
od: Johnson, V, i dr.
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Microsatellite instability in benign skin lesions in hereditary non-polyposis colorectal cancer syndrome.
od: Swale, V, i dr.
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EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
od: Kokko, A, i dr.
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DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load.
od: Tomlinson, I, i dr.
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Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
od: Lamlum, H, i dr.
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Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
od: Thirlwell, C, i dr.
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Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.
od: Cheng, T, i dr.
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APC mutations are sufficient for the growth of early colorectal adenomas.
od: Lamlum, H, i dr.
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Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
od: Halford, SE, i dr.
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<it>EPHB2 </it>germline variants in patients with colorectal cancer or hyperplastic polyposis
od: Schleutker Johanna, i dr.
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The comparasion of microsatellite instability at sporadic colorectal and hereditary non-polyposis colorectal cancers
od: Hadžiavdić Vesna, i dr.
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hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
od: Kim, J, i dr.
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Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
od: Sieber, O, i dr.
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Clinical and molecular features of the hereditary mixed polyposis syndrome.
od: Whitelaw, S, i dr.
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Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
od: Homfray, T, i dr.
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Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients
od: Mete Lupe, i dr.
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Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis
od: Micaella Kantor, i dr.
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Molecular genetic approach for screening of hereditary non-polyposis colorectal cancer
od: Metka Ravnik-Glavač
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Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
od: Lefevre, J, i dr.
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Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer
od: Lefevre, J, i dr.
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Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours.
od: Tomlinson, I, i dr.
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
od: Palles, C, i dr.
Izdano: (2013)

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
od: Lamlum, H, i dr.
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MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
od: Hitchins, M, i dr.
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Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.
od: Lipton, L, i dr.
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Clinical and genetic aspects of differential diagnostics of hereditary non-polyposis colorectal cancer
od: A. V. Semyanikhina, i dr.
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Investigating of microsatellites instability in patients with hereditary non-polyposis colorectal cancer in Isfahan
od: Vida Homayouni, i dr.
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CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers.
od: Woodford-Richens, K, i dr.
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