14 results on '"Sijmons, Rolf"'
Search Results
2. B Cells as Prognostic Biomarker After Surgery for Colorectal Liver Metastases.
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Hof, Joost, Visser, Lydia, Höppener, Diederik J., Nierop, Pieter M. H., Terpstra, Miente M., Gouw, Annette S. H., Grünhagen, Dirk J., Verhoef, Cornelis, Sijmons, Rolf H., de Jong, Koert P., and Kok, Klaas
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B cells ,LIVER metastasis ,PROCTOLOGY ,FALSE discovery rate ,PLASMA cells ,LIVER surgery - Abstract
Background: The aim of this study was to identify more accurate variables to improve prognostication of individual patients with colorectal liver metastases (CRLM). Clinicopathological characteristics only partly explain the large range in survival rates. Methods: MessengerRNA expression profiles of resected CRLM of two patient groups were analysed by mRNA sequencing: poor survivors (death from recurrent disease <30 months after surgery) and good survivors (no recurrent disease >60 months after surgery). Tumour and adjacent liver parenchyma samples were analysed. Results: MessengerRNA expression profiling of the tumour samples identified 77 genes that were differentially expressed between the two survival groups at a False Discovery Rate (FDR) <0.1. In the adjacent liver parenchyma samples only one gene, MTRNR2L1 , showed significantly higher expression in the good survivors. Pathway analysis showed higher expression of immune-related and stroma-related genes in tumour samples from good survivors. Expression data was then validated by immunohistochemistry in two cohorts comprising a total of 125 patients. Immunohistochemical markers that showed to be associated with good survival in the total cohort were: high K/L+ infiltration in tumour stroma [ p = 0.029; OR 2.500 (95% CI 1.100–5.682)] and high CD79A+ infiltration in tumour stroma [ p = 0.036; OR 2.428 (95%CI 1.062–5.552)]. Conclusions: A high stromal infiltration of CD79A+ B cells and K/L+ plasma cells might be favourable prognostic biomarkers after surgery for CRLM. [ABSTRACT FROM AUTHOR]
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- 2020
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3. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
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Vogelaar, Ingrid P., Ligtenberg, Marjolijn J. L., van der Post, Rachel S., de Voer, Richarda M., Kets, C. Marleen, Jansen, Trees J. G., Jacobs, Liesbeth, Schreibelt, Gerty, de Vries, I. Jolanda M., Netea, Mihai G., Hoogerbrugge, Nicoline, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Schackert, Hans K., Aalfs, Cora M., Gómez García, Encarna B., Ranzani, Guglielmina N., Molinaro, Valeria, van Hest, Liselotte P., Hes, Frederik J., Holinski Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G. E. M., Sijmons, Rolf H., Wagner, Anja, van der Kolk, Lizet E., Pinheiro, Hugo, Oliveira, Carla, Bjørnevoll, Inga, Høberg Vetti, Hildegunn, Han, J., van Krieken, J. M., Human genetics, CCA - Cancer biology, and Medical Genetics
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Helicobacter Infections/drug therapy ,0301 basic medicine ,Pathology ,Cancer Research ,Candida albicans/immunology ,Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] ,medicine.medical_treatment ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Case Reports ,Settore MED/03 - GENETICA MEDICA ,Germline ,Candida albicans ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Missense mutation ,Genetics(clinical) ,Myeloid Differentiation Factor 88/genetics ,Non-U.S. Gov't ,Genetics (clinical) ,Medicine(all) ,biology ,Research Support, Non-U.S. Gov't ,Homozygote ,Interleukin-17 ,Candidiasis ,Candidiasis/etiology ,3. Good health ,Cytokine ,Oncology ,Original Article ,Female ,Candidaalbicans ,Interleukin 17 ,Stomach Neoplasms/etiology ,Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] ,Adult ,medicine.medical_specialty ,Th17 response ,Research Support ,Peripheral blood mononuclear cell ,Helicobacter Infections ,03 medical and health sciences ,Immune system ,Stomach Neoplasms ,medicine ,Genetics ,Journal Article ,Humans ,cancer ,Gastric cancer ,MYD88 ,Myeloid Differentiation Factor 88 ,business.industry ,Cancer ,biology.organism_classification ,medicine.disease ,030104 developmental biology ,Interleukin-17/metabolism ,Immunology ,business - Abstract
Contains fulltext : 171354.pdf (Publisher’s version ) (Open Access) Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
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- 2016
4. Reusability of coded data in the primary care electronic medical record: A dynamic cohort study concerning cancer diagnoses.
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Sollie, Annet, Sijmons, Rolf H., Helsper, Charles, and Numans, Mattijs E.
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CANCER diagnosis , *ELECTRONIC health records , *PRIMARY care , *COHORT analysis , *MEDICAL databases , *TUMOR diagnosis , *DATABASES , *LONGITUDINAL method , *PRIMARY health care , *TUMORS , *DISEASE incidence , *ACQUISITION of data , *STANDARDS - Abstract
Objectives: To assess quality and reusability of coded cancer diagnoses in routine primary care data. To identify factors that influence data quality and areas for improvement.Methods: A dynamic cohort study in a Dutch network database containing 250,000 anonymized electronic medical records (EMRs) from 52 general practices was performed. Coded data from 2000 to 2011 for the three most common cancer types (breast, colon and prostate cancer) was compared to the Netherlands Cancer Registry.Measurements: Data quality is expressed in Standard Incidence Ratios (SIRs): the ratio between the number of coded cases observed in the primary care network database and the expected number of cases based on the Netherlands Cancer Registry. Ratios were multiplied by 100% for readability.Results: The overall SIR was 91.5% (95%CI 88.5-94.5) and showed improvement over the years. SIRs differ between cancer types: from 71.5% for colon cancer in males to 103.9% for breast cancer. There are differences in data quality (SIRs 76.2% - 99.7%) depending on the EMR system used, with SIRs up to 232.9% for breast cancer. Frequently observed errors in routine healthcare data can be classified as: lack of integrity checks, inaccurate use and/or lack of codes, and lack of EMR system functionality.Conclusions: Re-users of coded routine primary care Electronic Medical Record data should be aware that 30% of cancer cases can be missed. Up to 130% of cancer cases found in the EMR data can be false-positive. The type of EMR system and the type of cancer influence the quality of coded diagnosis registry. While data quality can be improved (e.g. through improving system design and by training EMR system users), re-use should only be taken care of by appropriately trained experts. [ABSTRACT FROM AUTHOR]- Published
- 2017
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5. Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
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Kohonen-Corish, Maija R. J., Macrae, Finlay, Genuardi, Maurizio, Aretz, Stefan, Bapat, Bharati, Bernstein, Inge T., Burn, John, Cotton, Richard G. H., den Dunnen, Johan T., Frebourg, Thierry, Greenblatt, Marc S., Hofstra, Robert, Holinski-Feder, Elke, Lappalainen, Ilkka, Lindblom, Annika, Maglott, Donna, Møller, Pål, Morreau, Hans, Möslein, Gabriela, and Sijmons, Rolf
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GASTROINTESTINAL tumors ,SOCIETIES ,ADULT education workshops ,HUMAN genetic variation ,GENETIC engineering - Abstract
The article discusses the highlights of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT)-Human Variome Project (HVP) Workshop held in Paris, France on May 10, 2010. The topics tackled included the development of an algorithm for interpreting MMR gene variants, the use of splicing and other functional assays to assign pathogenicity to unclassified variants and virtual pathology databasing of hereditary diseases. Sean Tavtigian and Robert Hofstra were among the speakers.
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- 2011
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6. The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study.
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van Oostrom, Iris, Meijers-Heijboer, Hanne, Duivenvoorden, Hugo J., Bröcker-Vriends, Annette H. J. T., van Asperen, Christi J., Sijmons, Rolf H., Seynaeve, Caroline, Van Gool, Arthur R., Klijn, Jan G. M., and Tibben, Aad
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HUMAN chromosome abnormality diagnosis ,GENETIC testing ,CANCER ,PSYCHOLOGICAL adaptation ,GENETICS - Abstract
This prospective study explored the contribution of illness representations and coping to cancer-related distress in unaffected individuals undergoing predictive genetic testing for an identified mutation in BRCA1/2 (BReast CAncer) or an HNPCC (Hereditary Nonpolyposis Colorectal Cancer)-related gene, based on the common sense model of self-regulation. Coping with hereditary cancer (UCL), illness representations (IPQ-R) and risk perception were assessed in 235 unaffected applicants for genetic testing before test result disclosure. Hereditary cancer distress (IES) and cancer worry (CWS) were assessed before, 2 weeks after and 6 months after result disclosure. Timeline (r = 0.30), consequences (r = 0.25), illness coherence (r = 0.21) and risk perception (r = 0.20) were significantly correlated to passive coping. Passive coping predicted hereditary cancer distress and cancer worry from pre-test (β = 0.46 and 0.42, respectively) up to 6 months after result disclosure (β = 0.32 and 0.19, respectively). Illness coherence predicted hereditary cancer distress up to 6 months after result disclosure (β = 0.24), too. The self-regulatory model may be useful to predict the cognitive and emotional reactions to genetic cancer susceptibility testing. Identifying unhelpful representations and cognitive restructuring may be appropriate interventions to help distressed individuals undergoing genetic susceptibility testing for a BRCA1/2 or a HNPCC-related mutation. Copyright © 2007 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]
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- 2007
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7. MUTYH and the mismatch repair system: partners in crime?
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Niessen, Renée, Sijmons, Rolf H., Ou, J., Olthof, Sandra G. M., Osinga, Jan, Ligtenberg, Marjolijn J., Hogervorst, Frans B. L., Weiss, Marjan M., Tops, Carli M. J., Hes, Frederik J., de Bock, Geertruida H., Buys, Charles H. C., Kleibeuker, Jan H., and Hofstra, Robert M. W.
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GENETIC mutation , *CARRIER proteins , *COLON cancer , *CANCER , *GENETICS , *MEDICAL genetics - Abstract
Biallelic germline mutations of MUTYH—a gene encoding a base excision repair protein—are associated with an increased susceptibility of colorectal cancer. Whether monoallelic MUTYH mutations also increase cancer risk is not yet clear, although there is some evidence suggesting a slight increase of risk. As the MUTYH protein interacts with the mismatch repair (MMR) system, we hypothesised that the combination of a monoallelic MUTYH mutation with an MMR gene mutation increases cancer risk. We therefore investigated the prevalence of monoallelic MUTYH mutations in carriers of a germline MMR mutation: 40 carriers of a truncating mutation (group I) and 36 of a missense mutation (group II). These patients had been diagnosed with either colorectal or endometrial cancer. We compared their MUTYH mutation frequencies with those observed in a group of 134 Dutch colorectal and endometrial cancer patients without an MMR gene mutation (0.7%) and those reported for Caucasian controls (1.5%). In group I one monoallelic MUTYH mutation was found (2.5%). In group II five monoallelic germline MUTYH mutations were found (14%), four of them in MSH6 missense mutation carriers (20%). Of all patients with an MMR gene mutation, only those with a missense mutation showed a significantly higher frequency of (monoallelic) MUTYH mutations than the Dutch cancer patients without MMR gene mutations ( P=0.002) and the published controls ( P=0.001). These results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk. [ABSTRACT FROM AUTHOR]
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- 2006
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8. <em>RET</em> Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia.
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Hofstra, Robert M. W., Sijmons, Rolf H., Stelwagen, Tineke, Stulp, Rein P., Kousseff, Boris G., Lips, Cornelis J. M., Steijlen, Peter M., van Voorst Vader, Pieter C., and Buys, Charles H. C. M.
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AMYLOIDOSIS , *HETEROGENEITY , *GENETIC mutation , *GENES , *HYPERPLASIA , *CANCER - Abstract
In several families, multiple endocrine neoplasia type 2A (MEN 2A) has been found in association with cutaneous lichen amyloidosis. It has been debated, however, whether the skin amyloidosis found in MEN 2A families, localized exclusively in the interscapular area, represents the same anomaly as that found in autosomal dominant familial cutaneous lichen amyloidosis, which is more generalized. We screened two MEN 2A families with associated skin amyloidosis for germline mutations in the RET gene responsible for the MEN 2A cancer syndrome, and found the same mutation characteristic of MEN 2A in both families. We also screened probands from three pedigrees with familial cutaneous lichen amyloidosis for RET mutations. In none of the RET coding and flanking intronic sequences was a mutation detected. This most probably indicates that skin amyloidosis found in some MEN 2A families and familial cutaneous lichen amyloidosis are different conditions. Consequently, patients with apparent familial cutaneous lichen amyloidosis do not appear to be at risk for MEN 2A. [ABSTRACT FROM AUTHOR]
- Published
- 1996
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9. Prognostic factors for hereditary cancer distress six months after BRCA1/2 or HNPCC genetic susceptibility testing
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van Oostrom, Iris, Meijers-Heijboer, Hanne, Duivenvoorden, Hugo J., Bröcker-Vriends, Annette H.J.T., van Asperen, Christi J., Sijmons, Rolf H., Seynaeve, Caroline, Van Gool, Arthur R., Klijn, Jan G.M., and Tibben, Aad
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CANCER , *TUMORS , *HEREDITY , *GENETICS , *GENETIC mutation - Abstract
Abstract: This study explored predictors for hereditary cancer distress six months after genetic susceptibility testing for a known familial BRCA1/2 or HNPCC related mutation, in order to gain insight into aspects relevant for the identification of individuals needing additional psychosocial support. Coping, illness representations, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before result disclosure. Hereditary cancer distress was assessed prospectively up to six months after disclosure. Regression analysis revealed that the pretest level of distress, complicated grief, the number of affected first-degree relatives and strong emotional illness representations were factors that best explained hereditary cancer distress. Other significant predictors were illness coherence, passive coping, distraction seeking, being aged <13 years when a parent was affected by cancer and family communication. Individuals who may benefit from additional support may be identified before result disclosure using a short instrument assessing the relevant aspects. [Copyright &y& Elsevier]
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- 2007
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10. Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress
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van Oostrom, Iris, Meijers-Heijboer, Hanne, Duivenvoorden, Hugo J., Bröcker-Vriends, Annette H.J.T., van Asperen, Christi J., Sijmons, Rolf H., Seynaeve, Caroline, Van Gool, Arthur R., Klijn, Jan G.M., and Tibben, Aad
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GENETIC counseling , *CANCER education , *HEALTH counseling , *RISK perception - Abstract
Abstract: Objective: To study differences between individuals opting for genetic cancer susceptibility testing of a known familial BRCA1/2 and HNPCC related germline mutation. Methods: Coping, illness perceptions, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before test result disclosure. Hereditary cancer distress, worry and cancer risk perception were assessed before, 1 week after, and 6 months after disclosure. Results: Individuals from BRCA1/2 and HNPCC mutation families did not differ with regard to the number of experiences with cancer in relatives, grief symptoms, the course of cancer distress, worry and risk perception through time and most illness perceptions, coping responses and family characteristics. Individuals from BRCA1/2 families perceived hereditary cancer as more serious. They reported more frequently a passive coping style, cancer worry and a less open communication with their partner and children. Conclusion: Besides subtle differences, psychological mechanisms may be mainly identical in individuals opting for BRCA1/2 and HNPCC susceptibility testing. Practice implications: Based on our findings, using a similar counseling approach for individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing is justified. In this approach, attention should be directed more to individual aspects than to the type of disorder. [Copyright &y& Elsevier]
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- 2007
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11. Genomic heterogeneity of clear cell renal cell carcinoma
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Paranita Ferronika, Sijmons, Rolf, Kok, Klaas, and Westers, Helga
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Kidney ,Chemotherapy ,business.industry ,medicine.medical_treatment ,Cancer ,medicine.disease ,PBRM1 ,Clear cell renal cell carcinoma ,medicine.anatomical_structure ,Cancer cell ,medicine ,Cancer research ,business ,Kidney cancer ,Gene - Abstract
Defects in DNA are an important driver of the behaviour of cancer. One of the challenges in understanding and treating cancer is that tumours of a certain type can differ between each other but also not all cancer cells within a single tumour are identical. Some cells within a tumour can for example be more resistant to chemotherapy than others or be more inclined to metastasize. Pathologist Paranita Ferronika (Department of Genetics, UMCG) studied these differences in the clear cell type of kidney cancer, which is the most common and usually lethal type. She identified many genetic differences between and within these tumours, and also between the tumours and their metastases. She was able to reconstruct the genetic steps in the evolution of metastases from particular regions within the kidney cancer. She also found that patients with defects in a particular combination of genes (PBRM1 and VHL) have a better cancer related survival than patients with tumours lacking that combination. Gaining more insight into the genetic differences between and within this kidney tumours and their metastases can help improving cancer diagnostics and treatment in the future.
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- 2019
12. Looking through the noise
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Leonard Fredericus Johansson, Sijmons, Rolf, Swertz, Morris, and Raddatz, Birgit
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education.field_of_study ,medicine.diagnostic_test ,business.industry ,Cancer predisposition ,Population ,Genetic variants ,Cancer ,medicine.disease ,DNA sequencing ,Inherited Predisposition ,Medicine ,In patient ,business ,education ,Algorithm ,Genetic testing - Abstract
In patients whose DNA is tested for genetic conditions it is a challenge to correctly identify genetic variants within the large amount of DNA sequence data that is generated in such tests. In the research for this thesis, various tools and algorithms were developed to better detect these variants and help increase the diagnostic yield of tests, giving more often a clear answer to diagnostic questions. Typically, in modern diagnostic DNA tests, data is generated that also contains information on risk for development of disorders unrelated to the reason for testing and often not present in the family. Actively searching for that information and sharing it with patients is referred to as opportunistic screening, and is not routinely performed in the Netherlands. More than 2,000 patients were anonymously screened to find out what the results would be if we would offer screening as an additional service in patients receiving genetic testing for a specific type of familial cancer. The research showed that over three percent of them carried a gene variant that predisposed them to other cancer types. A similar percentage was found in the general population. Opportunistic screening might potentially be life-saving. However, it is unclear what the actual risks are for individuals with inherited predisposition for cancer types that have not (yet) occurred in their families. Because of this, the benefits for opportunistic screening for cancer predisposition are unclear and there is clearly need for further study.
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- 2019
13. Reuse and Sharing of Electronic Health Record Data: with a focus on Primary Care and Disease Coding
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Sollie, JW, Numans, M.E., Sijmons, R.H., Helsper, C.W., Numans, Mattijs, Sijmons, Rolf H., Helsper, Charles W., Clinical genetics, and General practice
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Data ,Disease Coding ,Sharing ,Electronic Health Record ,Reuse ,Quality ,Primary Care ,Cancer - Published
- 2017
14. No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk
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de Jong, Mirjam M., Hofstra, Robert M.W., Kooi, Krista A., Westra, Jantine L., Berends, Maran J.W., Wu, Ying, Hollema, Harry, van der Sluis, Tineke, van der Graaf, Winette T.A., de Vries, Elisabeth G.E., Schaapveld, Michael, Sijmons, Rolf H., te Meerman, Gerard J., and Kleibeuker, Jan H.
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CANCER , *RISK , *GENES , *COLON cancer - Abstract
Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of 188 control subjects. As this variant might play a role in causing sporadic colorectal cancer, we analyzed its prevalence in sporadic colorectal cancer patients. We analyzed a small part of exon 1 of the MLH3 gene, including the S845G variant, in germline DNA of 467 white sporadic colorectal cancer patients and 497 white controls. The S845G variant was detected in five patients and eight controls; the results thus indicate that this variant does not confer an increased colorectal cancer risk. Another variant (P844L) was clearly a polymorphism. Three other missense variants were rare and the sample size of the study was too small to conclude whether they are pathogenic. In conclusion, no association was observed between two MLH3 variants (P844L and S845G) and colorectal cancer risk. [Copyright &y& Elsevier]
- Published
- 2004
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