Affiliation: Fondation Jean Dausset
- [Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas]S Olschwang
INSERM U434, CEPH, Paris, France
Pathol Biol (Paris) 54:215-29. 2006..HNPCC syndrome is responsible for 5% of colorectal cancers. Identification and management of this disease are part of a multidisciplinary procedure...
- Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinomaS Olschwang
INSERM U434, 27 rue Juliette Dodu, 75010 Paris, France
J Med Genet 38:356-60. 2001..No specific follow up has yet been evaluated for gene carriers. Furthermore, genetic heterogeneity has been reported, which makes genetic counselling difficult...
- Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastomaS Olschwang
Fondation Jean Dausset CEPH, Paris, France
Hum Mutat 12:424-30. 1998....
- [Endometrial cancer in HNPCC syndrome]F Lecuru
Service de Chirurgie Gynécologique et Cancérologique, Hopital Europeen Georges Pompidou, AP HP, Paris, France
J Gynecol Obstet Biol Reprod (Paris) 37:547-53. 2008..Screening of endometrial cancer remains the main objective of the management of those patients. Endometrial biopsy should have a larger place...
- Somatically acquired genetic alterations in flat colorectal neoplasiasS Olschwang
INSERM U434, C E P H, Paris, France
Int J Cancer 77:366-9. 1998..With the exception of a low KRAS mutation rate, flat adenomas appear to follow tumorigenesis pathways very similar to those identified in exophytic adenomas and carcinomas...
- Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control populationS Olschwang
Laboratoire de Génétique Moléculaire des Tumeurs, Institut Curie, Paris, France
Hum Genet 86:369-70. 1991..We could find no evidence that this polymorphism is associated with a marked predisposition to colorectal cancer...
- Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective studyF Lecuru
Department of Gynecological and Oncological Surgery, Georges Pompidou European Teaching Hospital, Paris, France
Int J Gynecol Cancer 18:1326-31. 2008..However, diagnostic hysteroscopy ensured the diagnosis of endometrial adenocarcinoma in HNPCC women with bleeding. Nevertheless, usefulness and optimal modalities of screening remain to be determined...
- Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomyY R Parc
Department of Digestive Surgery, , University Pierre et Marie Curie, Paris, France
Ann Surg 233:360-4. 2001..Regular endoscopic surveillance of the pouch is recommended at a frequency similar to that of upper gastrointestinal endoscopy...
- Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and JapanB Zbar
Laboratory of Immunobiology, Biological Carcinogenesis and Development Program, SAIC Frederick, Maryland, USA
Hum Mutat 8:348-57. 1996..The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of VHL and for studies of genotype-phenotype correlations in VHL...
- A serine/threonine kinase gene defective in Peutz-Jeghers syndromeA Hemminki
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
Nature 391:184-7. 1998..Peutz-Jeghers syndrome is therefore the first cancer-susceptibility syndrome to be identified that is due to inactivating mutations in a protein kinase...
- [Phenotype-genotype study in 154 French NF2 mutation carriers]L Demange
Centre Rene Huguenin, Saint Cloud, France
Rev Neurol (Paris) 163:1031-8. 2007..To assess whether the phenotypic variability of neurofibromatosis 2 could be linked to genotype, clinical data of 154 patients whose NF2 germline alteration had been identified in our laboratory have been collected...
- Turcot syndrome confirmed with molecular analysisC Lebrun
Service de Neurologie, Hopital Pasteur, Nice, France
Eur J Neurol 14:470-2. 2007..The subsequent molecular characterization may contribute to the appropriate care of affected patients and asymptomatic gene carriers...
- Alleles of the APC gene: an attenuated form of familial polyposisL Spirio
Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112
Cell 75:951-7. 1993..However, they differ in that the four mutated sites are located very close to one another and nearer the 5' end of the APC gene than any base substitutions or small deletions yet discovered in patients with classical APC...
- [HNPCC syndrome (hereditary non polyposis colon cancer): identification and management]S Olschwang
Institut Paoli Calmettes, INSERM UMR 599, 232, boulevard Sainte Marguerite, 13009 Marseille, France
Rev Med Interne 26:109-18. 2005..Gene carriers will enter a follow-up program regarding their colorectal and endometrial cancer risks; other organs being at low lifetime risk, no specific surveillance will be proposed...
- An alternative to prophylactic colectomy for colon cancer prevention in HNPCC syndromeS Olschwang
Gut 54:169. 2005
- Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCCF Di Fiore
J Med Genet 41:18-20. 2004
- Immunohistochemical analysis of adenocarcinoma of the small intestine: a tissue microarray studyM Svrcek
Department of Pathology, Saint Antoine Hospital, AP HP, F75571 Paris Cedex 12, France
J Clin Pathol 56:898-903. 2003..Primary adenocarcinomas of the small intestine are rare, and the genetic mechanisms involved in their carcinogenesis remain unclear...
- PTEN germ-line mutations in juvenile polyposis coliS Olschwang
Nat Genet 18:12-4. 1998
- Cancer risk in 348 French MSH2 or MLH1 gene carriersY Parc
J Med Genet 40:208-13. 2003