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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: gorman p. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers.
Gaasenbeek M, Howarth K, Rowan AJ, Gorman PA, Jones A, Chaplin T, Liu Y, Bicknell D, Davison EJ, Fiegler H, Carter NP, Roylance RR, Tomlinson IP. Gaasenbeek M, et al. Among authors: gorman pa. Cancer Res. 2006 Apr 1;66(7):3471-9. doi: 10.1158/0008-5472.CAN-05-3285. Cancer Res. 2006. PMID: 16585170
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.
Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Among authors: gorman p. Nat Med. 1999 Sep;5(9):1071-5. doi: 10.1038/12511. Nat Med. 1999. PMID: 10470088
SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway.
Woodford-Richens KL, Rowan AJ, Gorman P, Halford S, Bicknell DC, Wasan HS, Roylance RR, Bodmer WF, Tomlinson IP. Woodford-Richens KL, et al. Among authors: gorman p. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9719-23. doi: 10.1073/pnas.171321498. Epub 2001 Jul 31. Proc Natl Acad Sci U S A. 2001. PMID: 11481457 Free PMC article.
334 results