A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer
- Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. Di Fiore, F.; Charbonnier, F.; Martin, C.; Frerot, S.; Olschwang, S.; Wang, Q.; Boisson, C.; Buisine, M.-P.; Nilbert, M.; Lindblom, A.; Frebourg, T. // Journal of Medical Genetics;Jan2004, Vol. 41 Issue 1, p18
Points out that in hereditary non-polyposis colorectal cancer (HNPCC), point mutations of MSH2, MLH1 or MSH6 are detected in approximately half of the families involved, which therefore fulfill the Amsterdam criteria (AMS). Analysis of MSH2 in 120 AMS+ and 212 AMS- HNPCC families without MSH2...
- Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. Wildin, R.S.; Smyk-Pearson, S.; Filipovich, A.H. // Journal of Medical Genetics;Aug2002, Vol. 39 Issue 8, p537
Studies the molecular and clinical features of immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome. Key issues of interest; Analysis of pertinent topics and relevant issues; Theoretical significance to medical genetics.
- Coffin-Lowry syndrome: clinical and molecular features. Hanauer, A.; Young, I.D. // Journal of Medical Genetics;Oct2002, Vol. 39 Issue 10, p705
Studies the molecular and clinical features of the Coffin-Lowry syndrome. Key issues of interest; Analysis of pertinent topics and relevant issues; Implications on medical genetics.
- Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening. Julié, Catherine; Trésallet, Christophe; Brouquet, Antoine; Vallot, Céline; Zimmermann, Ute; Mitry, Emmanuel; Radvanyi, François; Rouleau, Etienne; Lidereau, Rosette; Coulet, Florence; Olschwang, Sylviane; Frébourg, Thierry; Rougier, Philippe; Nordlinger, Bernard; Laurent-Puig, Pierre; Penna, Christophe; Boileau, Catherine; Franc, Brigitte; Muti, Christine; Hofmann-Radvanyi, Hélène // American Journal of Gastroenterology;Nov2008, Vol. 103 Issue 11, p2825
BACKGROUND: The identification of individuals who should undergo hereditary nonpolyposis colorectal cancer (HNPCC) genetic testing remains a critical issue. The Bethesda guidelines were developed to preselect patients for microsatellite instability (MSI) testing before germline mutation...
- Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Henry Lynch; Jane Lynch; Patrick Lynch // Familial Cancer;Mar2008, Vol. 7 Issue 1, p27
AbstractÃ‚Â Ã‚Â Hereditary forms of colorectal cancer, as is the case with virtually all forms of hereditary cancer, show extensive phenotypic and genotypic heterogeneity, a phenomenon discussed throughout this special issue of Familial Cancer. Clearly, the family physician, oncology...
- 10. Colon Cancer, Hereditary Nonpolyposis-Lynch Syndrome (includes Lynch Syndrome, Hereditary Mismatch Repair Deficiency Syndrome, Muir-Torre Syndrome, and a subset of Turcot Syndrome). // JNCI: Journal of the National Cancer Institute;2008 Monographs Supplement, Issue 38, p32
The article offers information on the colon cancer, hereditary nonpolyposis-lynch syndrome. The syndrome is due to deleterious mutations in DNA mismatch repair genes which accounts 2%-3% of all colorectal cancer (CRC). Its associated benign neoplasms are colonic adenomas, keratoacanthomas,...
- 38. Polyposis, Familial Juvenile (includes Hereditary Mixed Polyposis Types 1 and 2). // JNCI: Journal of the National Cancer Institute;2008 Monographs Supplement, Issue 38, p73
The article offers information on the disease familial juvenile polyposis (FJP). The incidence of FJP is estimated to be between one in 16,000 and one in 100,000 live birth and 20%-50% of its cases are inherited. Its features include anemia, hypoalbuminemia, and hypokalemia. The associated...
- Family with a multiple cancer syndrome. Chirilà, Daciana N.; Turdeanu, Nicolae A.; Constantea, Nicolae A.; Popp, Radu; Bälácescu, Ovidiu; Pop, Tudor R.; Bungärdean, Càtälina I.; Ciuce, Constantin // Human & Veterinary Medicine;Dec2012, Vol. 4 Issue 3, p90
Objective: We present the clinical data of a family with a multiple cancer syndrome. Material and Methods: we made a chart of this family and analysed the clinical data offered by some members of the family; the genetic tests were not available for the members of the family. Results: The...
- Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition. Martin, Donna M.; Gorski, Jerome L. // Journal of Medical Genetics;Aug2001, Vol. 38 Issue 8, p547
Reports that microphthalmia and related ocular abnormalities are a common component of many multiple congenital anomaly syndromes. Case discussions; Autosomal dominant conditions.