Marie Luise Bisgaard
Affiliation: Copenhagen University Hospital
- Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutationMarie Luise Bisgaard
Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
Hum Mutat 20:20-7. 2002..The results indicate that the majority of missense mutations are pathogenic, although further characterization by functional assays is necessary before implementation in predictive testing programs...
- Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative StudyJae Gahb Park
Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Institute and Cancer Research Center, Seoul National University College of Medicine, Korea
Clin Cancer Res 12:3389-93. 2006..The aim of study was to determine the clinical characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients with small bowel cancer (SBC)...
- Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancerRasmus S Ripa
Department of Clinical Genetics, Copenhagen University Hospital, H S Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen O, Denmark
Mutat Res 570:89-96. 2005..On this basis, the application of the MSH2 N596del mutation, in presymptomatic screening of HNPCC families, is recommended...
- CHEK2 1100delC is prevalent in Swedish early onset familial breast cancerSara Margolin
Department of Oncology, Karolinska University Hospital at Södersjukhuset, Stockholm, Sweden
BMC Cancer 7:163. 2007..A truncating variant, 1100delC, in check point-kinase CHEK2, has been identified as a risk factor for familial and sporadic breast cancer. The prevalence in healthy non-breast cancer cases is low and varies between populations...
- [Correlations between the patient's genotype and the course of the disease in hereditary cancer diseases]Marie Luise Bisgaard
Københavns Universitet, Institut for Medicinsk Biokemi og Genetik, Klinik for Medicinsk Genetik, Panum Instituttet 24 4, Blegdamsvej 3, DK 2200 København N
Ugeskr Laeger 168:2341-4. 2006....
- Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cystsMarie Luise Bisgaard
Institute of Medical Biochemistry and Genetics, Department G, Copenhagen University, Panum Institute 24 4, Copenhagen N, Denmark
Am J Med Genet A 140:200-4. 2006..Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice...
- Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)Marie Luise Bisgaard
The Danish Polyposis Register, Department of Surgical Gastroenterology 435, Hvidovre University Hospital, Hvidovre, Denmark
Hum Mutat 23:522. 2004..We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation...
- Attenuated familial adenomatous polyposis (AFAP). A review of the literatureAnne Lyster Knudsen
The Danish Polyposis Register, Department of Surgical Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark
Fam Cancer 2:43-55. 2003..Prophylactic colectomy with ileorectal anastomosis (IRA) is recommended in most patients...
- [Prevention of colorectal cancer in families with hereditary nonpolyposis colorectal cancer]Inge T Bernstein
HNPCC registret, Gastroenheden, kirurgisk afsnit 435, H S Hvidovre Hospital, Kettegårds Allé, DK 2650 Hvidovre
Ugeskr Laeger 165:221-5. 2003..Screening with colonoscopy can reduce the CRC-rate by 62% and prevent CRC-deaths. The HNPCC-Register was established with the aim of identification and registration of Danish HNPCC-families and coordination of surveillance...
- Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2Annelie Liljegren
The Oncology Unit of Radiumhemmet at Karolinska University Hospital, Stockholm, Sweden
J Clin Oncol 26:3434-9. 2008..These prevalences have been estimated previously in smaller studies, and the results have been found to be variable...