Search Results - "Olschwang, S."
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1
Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias
Published in Leukemia (01-02-2010)Get full text
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2
Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome
Published in The New England journal of medicine (11-12-2008)“…This trial tested the influence of aspirin or resistant starch on the incidence of colorectal cancer or colonic adenomas in patients with the Lynch syndrome…”
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3
Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics
Published in Clinical genetics (01-02-2016)Get full text
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4
NCOA3, a new fusion partner for MOZ MYST3 in M5 acute myeloid leukemia
Published in Leukemia (01-03-2008)Get full text
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5
Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study
Published in British journal of cancer (27-05-2014)“…Background: To test the prognostic value of tumour protein and genetic markers in colorectal cancer (CRC) and examine whether deficient mismatch repair (dMMR)…”
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6
Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests
Published in Breast cancer research and treatment (01-08-2013)“…Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time,…”
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7
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Published in Journal of Medical Genetics (01-07-2005)“…Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other…”
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8
Cancer risk in 348 French MSH2 or MLH1 gene carriers
Published in Journal of medical genetics (01-03-2003)“…[...]the absence of significant genotype-phenotype correlation justifies the clinical evaluation of a unique surveillance protocol in the case of MSH2 or MLH1…”
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9
Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma
Published in Journal of medical genetics (01-06-2001)“…Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is…”
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10
Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma : Results from a european cooperative study
Published in The journal of clinical endocrinology and metabolism (2000)“…Papillary thyroid carcinoma (PTC) is one extracolonic manifestation affecting about 1-2% of patients with familial adenomatous polyposis (FAP). Ninety-seven…”
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First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome
Published in Clinical genetics (01-09-2011)Get full text
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12
Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases
Published in Leukemia (01-01-2009)“…The t(8;16)(p11;p13) is a rare translocation involved in de novo and therapy-related myelomonocytic and monocytic acute leukemia. It fuses two genes encoding…”
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13
Tissue microarray technology: validation in colorectal carcinoma and analysis of p53, hMLH1, and hMSH2 immunohistochemical expression
Published in Virchows Archiv : an international journal of pathology (01-08-2003)“…Tissue microarray technology enables the analysis of hundreds of specimens by arranging numerous 0.6-mm tissue core biopsy specimens into a single paraffin…”
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14
MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/ PDCD10 MUTATIONS
Published in Neurology (09-06-2009)Get full text
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15
PD-0608: Risk of metastasis and death in rectal cancer is increased with 8p deletion but not with gene expression
Published in Radiotherapy and oncology (01-03-2013)Get full text
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Frequent intragenic rearrangements of DPYD in colorectal tumours
Published in The pharmacogenomics journal (01-06-2015)“…Dihydropyrimidine dehydrogenase is a crucial enzyme for the degradation of 5-fluorouracil (5FU). DPYD, which encodes dihydropyrimidine dehydrogenase, is prone…”
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Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion
Published in Clinical genetics (01-07-2012)Get full text
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18
Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study
Published in International journal of gynecological cancer (01-11-2008)“…The objective of this study was to report the value of diagnostic hysteroscopy and endometrial biopsy for the detection of complex atypical hyperplasia or…”
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Germline mutation and genome instability
Published in European journal of cancer prevention (01-12-1999)“…Colorectal tumorigenesis has been associated with the progressive acquisition of a variety of genomic alterations in neoplastic cells. In 5-10% of cases, a…”
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20
Turcot syndrome confirmed with molecular analysis
Published in European journal of neurology (01-04-2007)“…Turcot syndrome is clinically characterized by the occurrence of primary brain tumor and colorectal tumor and has, in previous reports, been shown associated…”
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