Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

Nature Genetics
A HemminkiL A Aaltonen


Many human cancer susceptibility genes have been successfully mapped by genetic linkage studies. One that has so far eluded researchers is that for Peutz-Jeghers (P-J) syndrome, a condition characterized by intestinal hamartomatous polyposis and melanin spots of the lips, buccal mucosa and digits. A dramatically elevated risk of malignancy has also been documented. Gastrointestinal tumours as well as cancers of the breast, ovary, testis and uterine cervix appear to be overrepresented in families with this syndrome. The nature of hamartomatous polyps is equivicol. Hamartomas are usually considered histologically benign, but in the case of Peutz-Jeghers patients, there are reports of adenomatous and malignant changes in the polyps, and the possibility of a hamartoma-carcinoma sequence has been discussed. A search for a putative tumour suppressor locus was made using comparative genomic hybridization (CGH) of Peutz-Jeghers polyps, combined with loss of heterozygosity (LOH) study. Genetic linkage analysis in 12 families using markers from a deletion site demonstrated the presence of a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demons...Continue Reading


Jun 11, 1987·The New England Journal of Medicine·F M GiardielloG D Luk
Oct 1, 1993·Nature Genetics·A G Knudson
Oct 1, 1993·Diseases of the Colon and Rectum·K HizawaM Fujishima
Jun 1, 1996·Nature Medicine·D ShibataL A Aaltonen

❮ Previous
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Nov 2, 2004·Familial Cancer·Henry T LynchRandall E Brand
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Dec 23, 2003·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·C J KimW S Park
Jul 4, 2001·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·M Ponz de Leon, C Di Gregorio
Jan 1, 1997·Nature Genetics·O P Kallioniemi
Aug 1, 1997·Nature Genetics·D J MarshC Eng
Nov 26, 2008·Oncogene·A F Hezel, N Bardeesy
Feb 24, 2001·Alimentary Pharmacology & Therapeutics·I Dove-Edwin, H J Thomas
May 22, 2010·The Journal of Biological Chemistry·Koji OhashiKenneth Walsh
May 1, 1999·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·R DesperA A Schäffer
Sep 8, 2010·DNA and Cell Biology·Ebru KenanliNur Buyru
Apr 17, 2009·Molecular Biology of the Cell·Suchita Nath-Sain, Paola A Marignani
Jul 13, 1999·Human Molecular Genetics·D P SmithA Ashworth
Aug 6, 2011·Japanese Journal of Clinical Oncology·Atsushi OsoegawaYukito Ichinose
Jul 22, 1998·Journal of the National Cancer Institute·N M Lindor, M H Greene
Oct 7, 2006·Current Opinion in Gastroenterology·C Prakash, M S Levin
Oct 7, 2006·Current Opinion in Gastroenterology·R H HrubanS E Kern
Oct 13, 2006·Current Opinion in Gastroenterology·John M Carethers
Mar 4, 1998·Current Opinion in Obstetrics & Gynecology·T M DiamondJ Fiorica
Apr 2, 1998·Journal of Pediatric Gastroenterology and Nutrition·M G Martín
Aug 2, 2007·The American Journal of Surgical Pathology·Ashlie L BurkartElizabeth Montgomery
Oct 20, 2012·Digestive Endoscopy : Official Journal of the Japan Gastroenterological Endoscopy Society·Toshiharu SakuraiMasatoshi Kudo
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