Search Results - "Menko, FH"
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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
Published in Clinical genetics (01-01-2011)“…Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon MEH, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IPC, Hoefsloot LH, van Moorselaar RJA,…”
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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
Published in Journal of medical genetics (01-09-2005)“…Background: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included…”
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Do Preferred Risk Formats Lead to Better Understanding? A Multicenter Controlled Trial on Communicating Familial Breast Cancer Risks Using Different Risk Formats
Published in Patient preference and adherence (01-01-2020)“…Counselees' preferences are considered important for the choice of risk communication format and for improving patient-centered care. We here report on…”
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4
Birt-Hogg-Dubé syndrome: diagnosis and management
Published in The lancet oncology (01-12-2009)“…Summary Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous…”
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Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer
Published in The Journal of pathology (01-11-2001)“…The aim of this study was to investigate the occurrence of (pre)neoplastic lesions in overtly normal Fallopian tubes from women predisposed to developing…”
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6
Relative frequency and morphology of cancers in STK11 mutation carriers
Published in Gastroenterology (New York, N.Y. 1943) (01-06-2004)“…Background & Aims: There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 ( STK11) mutations…”
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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
Published in Cancer research (Chicago, Ill.) (01-04-2003)“…We applied a novel method to detect single or multiple exon deletions and amplifications in the BRCA1 gene. The test, called multiplex ligation-dependent probe…”
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MSH2 Mutation Carriers Are at Higher Risk of Cancer Than MLH1 Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families
Published in Journal of clinical oncology (15-10-2001)“…Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disease characterized by the clustering of colorectal cancer, endometrial cancer,…”
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Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion
Published in Clinical genetics (01-01-2016)“…In the Netherlands, the majority of hereditary paragangliomas (PGL) is caused by SDHD, SDHB and SDHAF2 mutations. Founder mutations in SDHD are particularly…”
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Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
Published in Oncogene (10-03-2011)“…Under conditions of reduced tissue oxygenation, hypoxia-inducible factor (HIF) controls many processes, including angiogenesis and cellular metabolism, and…”
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The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
Published in Gastroenterology (New York, N.Y. 1943) (01-01-2004)“…The adenoma-carcinoma sequence in hereditary nonpolyposis colorectal cancer (HNPCC) is accelerated. It remains unknown whether the mismatch repair (MMR) defect…”
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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
Published in Journal of medical genetics (01-09-2005)“…Objective: To investigate the contribution of MYH associated polyposis coli (MAP) among polyposis families in the Netherlands, and the prevalence of colonic…”
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13
Screening behavior of individuals at high risk for colorectal cancer
Published in Gastroenterology (New York, N.Y. 1943) (01-02-2005)“…Background & Aims: Periodic colonoscopy is an effective means of reducing the incidence and mortality of colorectal cancer in individuals with a family history…”
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Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
Published in Clinical genetics (01-03-2011)“…Vos J, Oosterwijk JC, Gómez‐García E, Menko FH, Jansen AM, Stoel RD, van Asperen CJ, Tibben A, Stiggelbout AM. Perceiving cancer‐risks and heredity‐likelihood…”
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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
Published in British journal of cancer (07-10-2002)“…Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatch-repair genes, in particular MLH1, MSH2…”
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Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
Published in Gastroenterology (New York, N.Y. 1943) (01-04-1996)“…BACKGROUND & AIMS: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The…”
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Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect
Published in Gut (01-12-2003)“…Background: In view of the high risk of developing a new primary colorectal carcinoma (CRC), subtotal colectomy rather than segmental resection or…”
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Localization of a Breast Cancer Susceptibility Gene, BRCA2, to Chromosome 13q12-13
Published in Science (American Association for the Advancement of Science) (30-09-1994)“…A small proportion of breast cancer, in particular those cases arising at a young age, is due to the inheritance of dominant susceptibility genes conferring a…”
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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
Published in Clinical genetics (01-09-2011)“…Johannesma PC, van der Klift HM, van Grieken NCT, Troost D, te Riele H, Jacobs MAJM, Postma TJ, Heideman DAM, Tops CMJ, Wijnen JT, Menko FH. Childhood brain…”
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Survival after adjuvant 5‐FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer
Published in International journal of cancer (10-04-2004)“…In vitro studies suggest that a deficient mismatch repair (MMR) system reduces 5‐Fluorouracil cytotoxicity. Colon cancer (CC) in hereditary nonpolyposis…”
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