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Genomes and GenesSpecies | H F A VasenSummaryCountry: The Netherlands Publications
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Publications
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsHans F A Vasen
Dutch Hereditary Cancer Registry and Department of Gastroenterology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands
Gut 62:812-23. 2013..The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families...
Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry dataD A van Dijk
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University Medical Centre, Leiden, The Netherlands
Fam Cancer 6:131-4. 2007..0001). We conclude that the family history is neglected in the majority of patients with colorectal cancer and MSI-analysis is only performed in a small proportion of the patients that meet the guidelines for this analysis...
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutationsMaartje Nielsen
Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
BMC Med Genet 8:42. 2007..5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population, implicating an increased risk for developing CRC...
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancerAnneke Middeldorp
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
BMC Cancer 7:6. 2007..We therefore setup a procedure for linkage analysis in large pedigrees and validated the method by genotyping using SNP arrays of a colorectal cancer family with a known MLH1 germ line mutation...
Recommendations to improve identification of hereditary and familial colorectal cancer in EuropeH F A Vasen
Department of Gastroenterology, Leiden University Medical Centre, 2333 AA Leiden, The Netherlands
Fam Cancer 9:109-15. 2010..The cost-effectiveness of this approach should be further evaluated. All countries with a CRC population screening program should obtain a full family history as part of patient assessment...
Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer)H F A Vasen
Department of Gastroenterology and Medical Oncology, Leiden University Medical Centre, Leiden, The Netherlands
Aliment Pharmacol Ther 26:113-26. 2007..The syndrome is due to a mutation in one of the mismatch repair (MMR) genes: MSH2, MLH1, MSH6 and PMS2...
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)H F A Vasen
Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
J Med Genet 44:353-62. 2007..The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families...
Can the identification of high risk groups increase the effectiveness of colon cancer screening programmes?H F A Vasen
The Netherlands Foundation for the Detection of Hereditary Tumours and Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
Z Gastroenterol 46:S41-2. 2008
Guidelines for the clinical management of familial adenomatous polyposis (FAP)H F A Vasen
Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
Gut 57:704-13. 2008..The guidelines described herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken...
One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndromeHans F A Vasen
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
Gastroenterology 138:2300-6. 2010..Because carcinogenesis is accelerated in Lynch syndrome, an intensive colonoscopic surveillance program has been recommended since 1995. The aim of the study was to evaluate the effectiveness of this program...
Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutationHans F A Vasen
Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands
Gastroenterology 140:850-6. 2011..We assessed the feasibility of detecting pancreatic cancer at an early stage and investigated the outcomes of patients with neoplastic lesions...
Cancer: Lynch syndrome--how should colorectal cancer be managed?Hans F A Vasen
Department of Gastroenterology and Hepatology, Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands
Nat Rev Gastroenterol Hepatol 8:184-6. 2011..The findings are clinically important as they might justify more extensive surgery to treat primary CRC in these patients...
Somatic APC mosaicism: an underestimated cause of polyposis coliF J Hes
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Gut 57:71-6. 2008..The patient with 10 or more adenomas in the colon poses a diagnostic challenge. Beside germline mutations in the APC and MUTYH genes, only four cases of mosaic APC mutations have been reported...
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposisM Nielsen
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Clin Genet 71:427-33. 2007....
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis?M H Nieuwenhuis
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
Gut 61:734-8. 2012..We evaluated the natural history of the disease and the outcome of colorectal surveillance and management...
Identification of HNPCC by molecular analysis of colorectal and endometrial tumorsH F A Vasen
Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
Dis Markers 20:207-13. 2004..Our studies showed that MSI and IHC analysis of colorectal and endometrial cancer, are reliable cost-effective tools that can be used to identify patients with HNPCC...
What is the appropriate screening protocol in Lynch syndrome?A E de Jong
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University Medical Center, Poortgebouw Zuid, 2333 AA, Leiden, The Netherlands
Fam Cancer 5:373-8. 2006..The aim of this study was to address these issues...
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomasA Middeldorp
Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands
J Pathol 216:25-31. 2008..The results presented in this study suggest that copy-neutral LOH is an important mechanism in the tumorigenesis of MAP...
Is colorectal surveillance indicated in patients with PTEN mutations?M H Nieuwenhuis
Netherlands Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands
Colorectal Dis 14:e562-6. 2012..We assessed the lifetime risk of benign and malignant gastrointestinal lesions in patients with a proven PTEN mutation...
Duodenal carcinoma in MUTYH-associated polyposisM Nielsen
Centre for Human and Clinical Genetics, LUMC, Leiden, The Netherlands
J Clin Pathol 59:1212-5. 2006..Studies in larger series of MAP patients are needed to investigate the risk of upper-gastro-intestinal malignancies and to determine further guidelines for endoscopical surveillance...
Extending the p16-Leiden tumour spectrum by respiratory tract tumoursR A Oldenburg
Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
J Med Genet 41:e31. 2004
High detection rate of adenomas in familial colorectal cancerA E van der Meulen-de Jong
Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
Gut 60:73-6. 2011..However, information about the yield of surveillance is limited. The aim of the present study was to evaluate the outcome of surveillance and to identify risk factors for the development of adenomas...
Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainmentF Quehenberger
Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, The Netherlands
J Med Genet 42:491-6. 2005..5% (11.1% to 70.3%). CONCLUSIONS: Current estimates of the CRC risk of mutations to the hMLH1 and hMSH2 locus should be replaced by considerably lower risks which account for the selection of the families...
Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patientsM H Nieuwenhuis
The Netherlands Foundation for the Detection of Hereditary Tumours, Rijnsburgerweg 10, Poortgebouw Zuid, 2333 AA Leiden, The Netherlands
Br J Cancer 104:37-42. 2011..The optimal treatment of desmoid tumours is controversial. We evaluated desmoid management in Dutch familial adenomatous polyposis (FAP) patients...
Double balloon endoscopy for detection of small-bowel adenomas in familial adenomatous polyposis after pancreaticoduodenectomy according to WhippleA M J Langers
Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
Endoscopy 40:773-4. 2008..This is the first description of the use of DBE for this indication, and emphasizes the need for surveillance of the small bowel after surgery, especially in the area of the biliary anastomosis...
Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defectW H de Vos tot Nederveen Cappel
Department of Gastroenterology, Leiden University Medical Centre Leiden, The Netherlands
Gut 52:1752-5. 2003..For older patients, hemicolectomy may be an option as there is no appreciable difference in LE...
The frequency of a positive family history for colorectal cancer: a population-based study in the NetherlandsA E de Jong
The Netherlands Foundation for the Detection of Hereditary Tumours and the Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
Neth J Med 64:367-70. 2006..CONCLUSION: The prevalence of a positive family history of CRC is substantial. Identification of this high-risk group by obtaining a thorough family history is the first step in targeting preventive measures...
Worldwide survey among polyposis registries of surgical management of severe duodenal adenomatosis in familial adenomatous polyposisW H de Vos tot Nederveen Cappel
The Netherlands Foundation for the Detection of Hereditary Tumours and Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
Br J Surg 90:705-10. 2003..CONCLUSION: Surgery for duodenal adenomatosis should take place before endoscopic biopsy reveals invasive cancer. Even after extensive surgical procedures, small bowel adenomas may occur, emphasizing the need for chemoprevention...
Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]H F A Vasen
Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
Fam Cancer 4:219-25. 2005..These guidelines describe practically all clinical conditions in which there is suspicion of the Lynch syndrome and in which a search for MSI is indicated...
Survival of patients with ovarian cancer due to a mismatch repair defectTh E M Crijnen
The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden University Medical Center, Poortgebouw Zuid, 2333 AA, Leiden, The Netherlands
Fam Cancer 4:301-5. 2005..The cumulative 5-year-survival rates were 64.2 and 58.1% respectively. CONCLUSION: On the basis of our findings, we recommend to treat OC-HNPCC similar to sporadic OC...
[Characterisation of families with hereditary prostate cancer in the Netherlands]H J Meulenbeld
Stichting Opsporing Erfelijke Tumoren, Poortgebouw Zuid, Rijnsburgerweg 10, 2333 AA Leiden
Ned Tijdschr Geneeskd 146:1938-42. 2002..The mean age of death due to prostate cancer was 71 years (54-84). The mean value of prostate specific antigen (PSA), known for 47 (17%) of the HPC patients, was 36.8 ng/ml (2.1-280)...
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literatureM H Nieuwenhuis
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University Medical Centre, The Netherlands
Crit Rev Oncol Hematol 61:153-61. 2007..No consistent correlations were found for upper gastrointestinal tumours. Genotype-phenotype correlations in FAP will be useful in decisions concerning screening and surgical management of FAP...
Early detection of breast and ovarian cancer in families with BRCA mutationsH F A Vasen
Department of Clinical Oncology, Leiden University Medical Center, The Netherlands
Eur J Cancer 41:549-54. 2005..However, because these women have a high-risk of developing breast cancer, they still have a substantial risk of developing metastatic disease under surveillance. Surveillance for ovarian cancer was not effective...
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive casesY M C Hendriks
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Fam Cancer 2:79-85. 2003..In addition, we propose a yearly haemoglobin test from early infancy for the early detection of intestinal hamartomas, which are likely to give severe complications, especially in BRRS cases...
Cost effectiveness of a new strategy to identify HNPCC patientsW Kievit
Department of Medical Technology, University Medical Centre Nijmegen, 417 Human Genetics, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Gut 54:97-102. 2005..CONCLUSIONS: MSI testing in a selection of newly diagnosed CRC patients was shown to be cost effective and a feasible method to identify patients at risk for HNPCC who are not recognised by family history...
Meat consumption and meat preparation in relation to colorectal adenomas among sporadic and HNPCC family patients in The NetherlandsD W Voskuil
Division of Human Nutrition and Epidemiology, Wageningen University, PO Box 8129, 6700 EV, Wageningen, The Netherlands
Eur J Cancer 38:2300-8. 2002..Some characteristics of habitual meat preparation in the Netherlands may, however, increase the risk of sporadic adenomas...
Experience of discharge from colonoscopy of mutation negative HNPCC family membersE M A Bleiker
J Med Genet 40:e55. 2003
[Recommendations for the management of women with an increased genetic risk of gynaecological cancer]R H M Verheijen
afd Verloskunde en Gynaecologie, VU Medisch Centrum, Postbus 7057, 1007 MB Amsterdam
Ned Tijdschr Geneeskd 146:2414-8. 2002..Recommendations for surveillance and prevention should only be given after genetic-risk counselling, based on a detailed family study and DNA-based diagnosis...
Duodenal adenomatosis in familial adenomatous polyposisS Bulow
The Danish Polyposis Register, Hvidovre University Hospital, Copenhagen, Denmark
Gut 53:381-6. 2004..The prevalence of duodenal carcinoma is much higher in familial adenomatous polyposis (FAP) than in the background population, and duodenal adenomatosis is found in most polyposis patients...
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)M Nielsen
J Med Genet 42:e54. 2005..The frequent occurrence of additional extraintestinal manifestations, such as breast cancer among female MAP patients, should be thoroughly investigated...
[Desmoid tumors in patients with familial adenomatous polyposis]A Pikaar
Leids Universitair Medisch Centrum (LUMC, afd. Klinische Oncologie en afd. Maag, Darm- en Leverziekten, Leiden
Ned Tijdschr Geneeskd 146:1355-9. 2002..Radiotherapy may play a role in the treatment of irresectable extra-abdominal or abdominal wall tumours, or as adjuvant treatment of tumours with positive margins...
An alternative to prophylactic colectomy for colon cancer prevention in HNPCC syndromeH F A Vasen
Gut 54:1501-2. 2005
Increased risk of colorectal neoplasia in asymptomatic liver-transplant recipientsJ J Koornstra
Gut 56:892-3. 2007
Cancer risks in BRCA2 families: estimates for sites other than breast and ovaryC J van Asperen
J Med Genet 42:711-9. 2005..Larger databases with extended follow up are needed to provide insight into mutation specific risks of selected carriers in BRCA2 families...
[From gene to disease; MutYH-associated polyposis coli (MAP)]M Nielsen
Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden
Ned Tijdschr Geneeskd 149:2970-2. 2005..MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations...
Is surveillance of the small bowel indicated for Lynch syndrome families?G L ten Kate
Dutch HNPCC Registry, Department of Gastroenterology of the Leiden University Medical Centre Leiden, Netherlands
Gut 56:1198-201. 2007..To advise on screening for this tumour it is paramount to be informed about the lifetime risk. The aim of this study was to calculate the lifetime risk of SBC in LS and to identify possible risk factors...
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutationA Wagner
J Med Genet 39:833-7. 2002
