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Potjer T.P.,Leiden University | van der Stoep N.,Leiden University | Houwing-Duistermaat J.J.,Leiden University | Konings I.C.A.W.,Erasmus Medical Center | And 9 more authors.
BMC Research Notes | Year: 2015

Background: The p16-Leiden founder mutation in the CDKN2A gene is the most common cause of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome in the Netherlands. Individuals with this mutation are at increased risk for developing melanoma of the skin, as well as pancreatic cancer. However, there is a notable interfamilial variability in the occurrence of pancreatic cancer among p16-Leiden families. We aimed to test whether previously identified genetic risk factors for pancreatic cancer modify the risk for pancreatic cancer in p16-Leiden germline mutation carriers. Methods: Seven pancreatic cancer-associated SNPs were selected from the literature and were genotyped in a cohort of 185 p16-Leiden germline mutation carriers from 88 families, including 50 cases (median age 55 years) with pancreatic cancer and 135 controls (median age 64 years) without pancreatic cancer. Allelic odds ratios per SNP were calculated. Results: No significant association with pancreatic cancer was found for any of the seven SNPs. Conclusions: Since genetic modifiers for developing melanoma have already been identified in CDKN2A mutation carriers, this study does not exclude that genetic modifiers do not play a role in the individual pancreatic cancer risk in this cohort of p16-Leiden germline mutation carriers. The search for these modifiers should therefore continue, because they can potentially facilitate more targeted pancreatic surveillance programs. © 2015 Potjer et al. Source


Gopie J.P.,Leiden University | Vasen H.F.A.,The Netherlands Foundation for the Detection of Hereditary Tumours | Vasen H.F.A.,Leiden University | Tibben A.,Leiden University | Tibben A.,Erasmus Medical Center
Critical Reviews in Oncology/Hematology | Year: 2012

Individuals at risk for developing hereditary cancer are offered surveillance in order to improve the prognosis. An important question is whether the benefit of surveillance outweighs the psychological burden. In this review, we evaluated all studies that investigated psychological distress and the quality of life in individuals under surveillance for hereditary cancer of the breast, ovarian, prostate, pancreas, colorectum, melanoma, and various rare syndromes such as familial adenomatous polyposis, Li-Fraumeni and Peutz-Jeghers syndrome.Thirty-two studies were identified. Surveillance for most hereditary cancers was associated with good psychological outcomes. However, surveillance of individuals at high risk for developing multiple tumors appeared to be associated with increased distress and a lower quality of life. Common factors associated with worse psychological outcomes included a personal history of cancer, female gender, having a first degree relative with cancer, negative illness perceptions and coping style. The use of a simple screening tool to identify distressed individuals is recommended. © 2012 Elsevier Ireland Ltd. Source


Cremers R.G.,Radboud University Nijmegen | Aben K.K.,Radboud University Nijmegen | van Oort I.M.,Radboud University Nijmegen | Sedelaar J.P.M.,Radboud University Nijmegen | And 3 more authors.
Prostate | Year: 2016

BACKGROUND: The definition of hereditary prostate cancer (HPC) is based on family history and age at onset. Intuitively, HPC is a serious subtype of prostate cancer but there are only limited data on the clinical phenotype of HPC. Here, we aimed to compare the prognosis of HPC to the sporadic form of prostate cancer (SPC). METHODS: HPC patients were identified through a national registry of HPC families in the Netherlands, selecting patients diagnosed from the year 2000 onward (n = 324). SPC patients were identified from the Netherlands Cancer Registry (NCR) between 2003 and 2006 for a population-based study into the genetic susceptibility of PC (n = 1,664). Detailed clinical data were collected by NCR-registrars, using a standardized registration form. Follow-up extended up to the end of 2013. Differences between the groups were evaluated by cross-tabulations and tested for statistical significance while accounting for familial dependency of observations by GEE. Differences in progression-free and overall survival were evaluated using χ2 testing with GEE in a proportional-hazards model. RESULTS: HPC patients were on average 3 years younger at diagnosis, had lower PSA values, lower Gleason scores, and more often locally confined disease. Of the HPC patients, 35% had high-risk disease (NICE-criteria) versus 51% of the SPC patients. HPC patients were less often treated with active surveillance. Kaplan–Meier 5-year progression-free survival after radical prostatectomy was comparable for HPC (78%) and SPC (74%; P = 0.30). The 5-year overall survival was 85% (95%CI 81–89%) for HPC versus 80% (95%CI 78–82%) for SPC (P = 0.03). CONCLUSIONS: HPC has a favorable clinical phenotype but patients more often underwent radical treatment. The major limitation of HPC is the absence of a genetics-based definition of HPC, which may lead to over-diagnosis of PC in men with a family history of prostate cancer. The HPC definition should, therefore, be re-evaluated, aiming at a reduction of over-diagnosis and overtreatment among men with multiple relatives diagnosed with PC. Prostate 76:897–904, 2016. © 2016 The Authors. The Prostate published by Wiley Periodicals, Inc. © 2016 The Authors. The Prostate published by Wiley Periodicals, Inc. Source


Douma K.F.L.,Netherlands Cancer Institute | Bleiker E.M.A.,Netherlands Cancer Institute | Vasen H.F.A.,The Netherlands Foundation for the Detection of Hereditary Tumours | Vasen H.F.A.,Leiden University | And 2 more authors.
Colorectal Disease | Year: 2011

Aim The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life, and to identify factors significantly associated with HRQOL. This study is the first to compare HRQOL between patients with FAP, at-risk individuals and noncarriers. Method A total of 525 individuals (response rate 64%) from 145 families at high risk for FAP completed a battery of self-report questionnaires assessing generic- and condition-specific HRQOL and the consequences of FAP for daily life. Results HRQOL was comparable to that of the general Dutch population. Surgically treated patients with FAP had significantly lower scores on several HRQOL domains compared with at-risk individuals, noncarriers and nonsurgically treated patients with FAP. Type of surgery was not significantly associated with HRQOL. Within the surgically treated group, postsurgical complications and comorbidity significantly affected HRQOL. Forty-one percent of patients reported that FAP had affected their working life. Conclusion Surgically treated patients with FAP have significantly poorer HRQOL than other groups. The type of surgery and age at time of first surgery were not associated with HRQOL but surgical complications and comorbidity were. Patients should be informed of the consequences of FAP for work and other life domains. © 2011 The Authors. Colorectal Disease © 2011 The Association of Coloproctology of Great Britain and Ireland. Source


Douma K.F.L.,Netherlands Cancer Institute | Bleiker E.M.A.,Netherlands Cancer Institute | Aaronson N.K.,Netherlands Cancer Institute | Cats A.,Netherlands Cancer Institute | And 4 more authors.
Colorectal Disease | Year: 2010

Aim The study assessed compliance of patients with familial adenomatous polyposis (FAP) with endoscopic surveillance.Method In this nationwide, cross-sectional study, individuals from FAP families registered with the Netherlands Foundation for the Detection of Hereditary Tumours were invited to complete a questionnaire on endoscopic screening experiences.Results A total of 328 individuals were eligible for the study of whom 85 were at risk for FAP, 108 had an intact rectum after a colectomy with ileorectal anastomosis (IRA), and 135 had had a pouch following a proctocolectomy with ileoanal anastomosis (IPAA). Based on medical record data, 20% of the at-risk group and 26% of the IRA-group were found to be undercompliant with surveillance advice which was associated significantly with perceived self-efficacy, use of sedatives during surveillance, pain after surveillance and low perceived benefits of surveillance (P < 0.05).Conclusion One in five individuals at risk for FAP and one in four with a retained rectum are undercompliant with screening advice. We recommend that sedatives should be patient-tailored for FAP individuals undergoing surveillance and that adequate pain medication be provided after endoscopy. © 2010 The Authors. Colorectal Disease © 2010 The Association of Coloproctology of Great Britain and Ireland. Source

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