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Dive into the research topics where E. B. Gómez García is active.

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Featured researches published by E. B. Gómez García.


Journal of Medical Genetics | 2005

Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

C.J. van Asperen; Richard Brohet; E J Meijers-Heijboer; Nicoline Hoogerbrugge; Senno Verhoef; Hans F. A. Vasen; Marlein Ausems; Fred H. Menko; E. B. Gómez García; J.G.M. Klijn; Frans B. L. Hogervorst; J.C. van Houwelingen; L van't Veer; Matti A. Rookus; F.E. van Leeuwen

Background: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included in earlier reports were selected on the basis of multiple breast/ovarian cancer cases, it is possible that risk estimates may differ in mutation carriers with a less striking family history. Methods: In the Netherlands, 139 BRCA2 families with 66 different pathogenic mutations were included in a nationwide study. To avoid testing bias, we chose not to estimate risk in typed carriers, but rather in male and female family members with a 50% prior probability of being a carrier (n = 1811). The relative risk (RR) for each cancer site with the exception of breast and ovarian cancer was determined by comparing observed numbers with those expected, based on Dutch cancer incidence rates. Results: We observed an excess risk for four cancer sites: pancreas (RR 5.9; 95% confidence interval (CI) 3.2 to 10.0), prostate (2.5; 1.6 to 3.8), bone (14.4; 2.9 to 42.1) and pharynx (7.3; 2.0 to 18.6). A small increase was observed for cancer of the digestive tract (1.5; 1.1 to 1.9). Histological verification was available for 46% of the tumours. Nearly all increased risks reached statistical significance for men only. Cancer risks tended to be higher for people before the age of 65 years. Moreover, families with mutations outside the previously defined ovarian cancer cluster region tended to have a higher cancer risk. Conclusions: We found that BRCA2 carriers are at increased risk for cancers of the prostate and pancreas, and possibly bone and pharynx. Larger databases with extended follow up are needed to provide insight into mutation specific risks of selected carriers in BRCA2 families.


Journal of Medical Genetics | 2005

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

Maartje Nielsen; Patrick Franken; T H C M Reinards; Marjan M. Weiss; Anja Wagner; H. van der Klift; S. Kloosterman; Jeanine J. Houwing-Duistermaat; Cora M. Aalfs; Marlein Ausems; Annette H. J. T. Bröcker-Vriends; E. B. Gómez García; Nicoline Hoogerbrugge; Fred H. Menko; Rolf H. Sijmons; Senno Verhoef; Ernst J. Kuipers; H. Morreau; Martijn H. Breuning; C. Tops; Juul T. Wijnen; Hans F. A. Vasen; Riccardo Fodde; Frederik J. Hes

Objective: To investigate the contribution of MYH associated polyposis coli (MAP) among polyposis families in the Netherlands, and the prevalence of colonic and extracolonic manifestations in MAP patients. Methods: 170 patients with polyposis coli, who previously tested negative for APC mutations, were screened by denaturing gradient gel electrophoresis and direct sequencing to identify MYH germline mutations. Results: Homozygous and compound heterozygous MYH mutations were identified in 40 patients (24%). No difference was found in the percentage of biallelic mutation carriers between patients with 10–99 polyps or 100–1000 polyps (29% in both groups). Colorectal cancer was found in 26 of the 40 patients with MAP (65%) within the age range 21 to 67 years (median 45). Complete endoscopic reports were available for 16 MAP patients and revealed five cases with gastro-duodenal polyps (31%), one of whom also presented with a duodenal carcinoma. Breast cancer occurred in 18% of female MAP patients, significantly more than expected from national statistics (standardised morbidity ratio = 3.75). Conclusions: Polyp numbers in MAP patients were equally associated with the attenuated and classical polyposis coli phenotypes. Two thirds of the MAP patients had colorectal cancer, 95% of whom were older than 35 years, and one third of a subset of patients had upper gastrointestinal lesions. Endoscopic screening of the whole intestine should be carried out every two years for all MAP patients, starting from age 25–30 years. The frequent occurrence of additional extraintestinal manifestations, such as breast cancer among female MAP patients, should be thoroughly investigated.


Clinical Genetics | 2010

Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress.

C. R. M. Lammens; Eveline M. A. Bleiker; Senno Verhoef; Frederik J. Hes; Marlein Ausems; Danielle Majoor-Krakauer; Rolf H. Sijmons; R. B. van der Luijt; A. van den Ouweland; T.A.M. van Os; Nicoline Hoogerbrugge; E. B. Gómez García; Charlotte J. Dommering; Chad M. Gundy; Neil K. Aaronson

Lammens CRM, Bleiker EMA, Verhoef S, Hes FJ, Ausems MGEM, Majoor‐Krakauer D, Sijmons RH, Luijt van der RB, Ouweland van den AMW, Van Os Tam, Hoogerbrugge N, Gomez‐Garcia EB, Dommering CJ, Gundy CM, Aaronson NK. Psychosocial impact of von Hippel–Lindau disease: levels and sources of distress.


Colorectal Disease | 2012

Is colorectal surveillance indicated in patients with PTEN mutations

Marry H. Nieuwenhuis; C. M. Kets; Maureen Murphy-Ryan; Chrystelle Colas; Pål Møller; Frederik J. Hes; Shirley Hodgson; Maran J. W. Olderode-Berends; Stefan Aretz; Karl Heinimann; E. B. Gómez García; Fiona Douglas; Allan D. Spigelman; Susanne Timshel; Noralane M. Lindor; Hans F. A. Vasen

Aim  Patients with germline phosphatase and tensin homologue (PTEN) mutations develop hamartomatous lesions in several organs and are at increased risk of various malignancies. We assessed the lifetime risk of benign and malignant gastrointestinal lesions in patients with a proven PTEN mutation.


Familial Cancer | 2010

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

J. J. T. van Harssel; Yvonne Detisch; Rita D. Brandão; Aimee D.C. Paulussen; M. Zeegers; Marinus J. Blok; E. B. Gómez García

Considerable differences exist amongst countries in the mutation probability methods and thresholds used to select patients for BRCA1/2 genetic screening. In order to assess the added value of mutation probability methods, we have retrospectively calculated the BRCAPRO and Myriad II probabilities in 306 probands who had previously been selected for DNA-analysis according to criteria based on familial history of cancer. DNA-analysis identified 52 mutations (16.9%) and 11 unclassified variants (UVs, 3.6%). Compared to cancer history, a threshold ≥10% with BRCAPRO or with Myriad II excluded about 40% of the patients from analysis, including four with a mutation and probabilities <10% with both programs. All four probands had a BRCA2 mutation. BRCAPRO and Myriad II showed similar specificity at 10% threshold, overall BRCAPRO was more sensitive than Myriad II for the detection of mutations. Only two of the probands with an UV had probabilities >20% with BRCAPRO and Myriad II. In summary, BRCAPRO and Myriad II are more efficient than cancer history alone to exclude patients without a mutation. BRCAPRO performs better for the detection of BRCA1 mutations than of BRCA2 mutations. The Myriad II scores provided no additional information than the BRCAPRO scores alone for the detection of patients with a mutation. The use of thresholds excluded from analysis the majority of patients carrying an UV.


Clinical Genetics | 2018

Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch Syndrome carriers: randomized controlled trial

A. Vrieling; A. Visser; M. Hoedjes; M. Hurks; E. B. Gómez García; N. Hoogerbrugge; Ellen Kampman

Lynch syndrome (LS) mutation carriers may reduce their cancer risk by adhering to lifestyle recommendations for cancer prevention. This study tested the effect of providing LS mutation carriers with World Cancer Research Fund‐the Netherlands (WCRF‐NL) health promotion materials on awareness and knowledge of and adherence to these recommendations. In this randomized controlled trial (n = 226), the intervention group (n = 114) received WCRF‐NL health promotion materials. All LS mutation carriers were asked to fill out questionnaires at 2 weeks before (baseline, T0) and at 2 weeks (T1) and 6 months (T2) after the intervention. Linear mixed models were performed on awareness (0‐7) and knowledge (0‐7) of the recommendations, and on the secondary outcomes, that is adherence, distress, cancer worry, and risk perception. Compared with the control group, the intervention group became significantly more aware (overall mean difference = 1.24; 95%CI = 0.82‐1.67) and obtained significantly improved knowledge of the recommendations (overall mean difference = 1.65; 95%CI = 1.27‐2.03). Differences were significantly larger for T1 (Pinteraction = .003 and ≤.001, respectively) but remained significant for T2. No effect on secondary outcomes was found. In conclusion, provision of WCRF‐NL health promotion materials increases awareness and knowledge of lifestyle recommendations for cancer prevention among LS mutation carriers without causing additional distress, but does not affect adherence.


Familial Cancer | 2010

Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

C. R. M. Lammens; Eveline M. A. Bleiker; Neil K. Aaronson; Anja Wagner; Rolf H. Sijmons; Marlein Ausems; Annette H. J. T. Vriends; Marielle W. G. Ruijs; T.A.M. van Os; Liesbeth Spruijt; E. B. Gómez García; Annemieke Cats; Tanja Nagtegaal; Senno Verhoef


Familial Cancer | 2016

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Z. Ghorbanoghli; Marry H. Nieuwenhuis; Jeanine J. Houwing-Duistermaat; Shantie Jagmohan-Changur; Frederik J. Hes; Carli M. J. Tops; Anja Wagner; Cora M. Aalfs; Senno Verhoef; E. B. Gómez García; Rolf H. Sijmons; Fred H. Menko; Tom G. W. Letteboer; Nicoline Hoogerbrugge; T. van Wezel; Hans F. A. Vasen; Juul T. Wijnen


Archive | 2011

Klinisch-genetische aspecten van kanker

Hans F. A. Vasen; E. B. Gómez García; Nicoline Hoogerbrugge


Clinical Genetics | 2010

Psychosocial impact of Von Hippel-Lindau disease

C. R. M. Lammens; Eveline M. A. Bleiker; Senno Verhoef; Frederik J. Hes; Marlein Ausems; Danielle Majoor-Krakauer; Rolf H. Sijmons; R. B. van der Luijt; A. van den Ouweland; Tam Van Os; Nicoline Hoogerbrugge; E. B. Gómez García; Charlotte J. Dommering; Chad M. Gundy; Neil K. Aaronson

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Senno Verhoef

Netherlands Cancer Institute

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Frederik J. Hes

Leiden University Medical Center

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Rolf H. Sijmons

University Medical Center Groningen

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Anja Wagner

Erasmus University Rotterdam

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Fred H. Menko

Netherlands Cancer Institute

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C. R. M. Lammens

Netherlands Cancer Institute

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