Dokter, krijg ik nu ook kanker? : herkennen, behandelen en voorkomen van erfelijke kanker

Contains fulltext : 83297.pdf (publisher's version ) (Open Access)Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Erfelijke kanker aan het UMC St Radboud/de Radboud Universiteit Nijmegen op donderdag 21 januari 2010, 21 januari 201019 p

High-risk lesions in high-risk women: A high-risk formalin-based biology! Reply

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Inhibition of carnitine palmitoyltransferase leads to induction of 3-hydroxymethylglutaryl coenzyme A reductase activity in rat liver

Abstract The relation between carnitine palmitoyltransferase (CPT) activity and 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase activity was investigated. Rats were treated with aminocarnitine or 1-carnitine overnight. In rats, in which CPT activity was inhibited by aminocarnitine, plasma and hepatic triacylglycerol contents were increased 5- to 6-fold. The plasma cholesterol concentration was unchanged, while the hepatic cholesterol content was lowered (−16%). Hepatic cholesterol synthesis, determined by following the incorporation of 14C-acetate and 3H2O into digitonin-precipitable sterols, in liver slices was increased 5- to 7-fold. HMG-CoA reductase activity in liver microsomes was increased to the same extent

[In cases of familial ovarian cancer, always consider the risk of breast cancer]

Contains fulltext : 58980.pdf (publisher's version ) (Closed access)A family history of ovarian cancer without breast cancer can be a pitfall in interpreting the high breast cancer risks. A family with high breast and ovarian cancer risks due to a BRCA1 or BRCA2 mutation, can present itself with ovarian cancer only. In three women, 43, 50 and 61 years of age, there was a family history of ovarian cancer. In the youngest woman breast carcinoma was diagnosed and she was referred for genetic counseling and DNA mutation analysis. She was identified with a pathogenic mutation in BRCA1 and decided for regular breast examination and prophylactic adnectomy. The 50-year-old woman presented with ovarian cancer and was found to have a BRCA1 mutation. She received surgery and chemotherapy for her ovarian cancer and regular examination of the breasts. The third woman at risk could be reassured, since she did not carry the BRCA1 mutation that was found in her affected sister. Because the patients and their family members can benefit from regular surveillance and prophylactic surgery, it is of great importance to identify the high breast cancer risks as well as the high ovarian cancer risks in these families

[Preventive resection of hereditary diffuse gastric cancer]

Hereditary diffuse gastric cancers are rare, accounting for at most 1-3% of gastric cancers. It can be caused by a mutation in the tumour-suppressor gene CDH1. A healthy person carrying a CDH1 mutation has a cumulative risk of developing gastric cancer of 70-80%. In most cases, gastric cancer is detected before the age of 40 years. The effectiveness of screening for hereditary diffuse gastric cancer or early detection with twice-yearly upper GI endoscopy with blind biopsies is highly questionable. Given the poor prognosis of patients with hereditary diffuse gastric cancer, prophylactic gastrectomy can be considered an option for patients with a CDH1 mutation. It is recommended that the supervision, screening and possible preventative gastrectomy for hereditary diffuse gastric cancers are handled by a multidisciplinary team in a specialised centre

Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer

During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists regarding the needs and preferences of counselees. In this study needs and preferences were assessed from counselees with a personal and/or family history of colorectal cancer (CRC), who were referred for genetic counseling regarding CRC. They received a slightly modified version of the QUOTE-GENE(ca) questionnaire prior to their first visit to the Hereditary Cancer Clinic. Response rate was 60 % (48/80 participants). Counselees rated the importance of 45 items assessing their needs and preferences regarding the content and process of genetic counseling. Participants rated the items regarding discussion of information about their familial CRC risk (100 %) and preventive options (98 %) as important or very important. Fewer participants rated items concerning general information on genetics as important. Sensitive communication during counseling was considered very important by a large percentage of counselees. Generally, no major differences were seen between participants in relation to individual characteristics. Our data suggest that focusing on familial CRC risk and surveillance options, in combination with sensitive communication may lead to better satisfaction with genetic counseling

[Preventive resection of hereditary diffuse gastric cancer],Preventieve resectie van erfelijk, diffuus maagcarcinoom.

Contains fulltext : 49669.pdf (publisher's version ) (Closed access)Hereditary diffuse gastric cancers are rare, accounting for at most 1-3% of gastric cancers. It can be caused by a mutation in the tumour-suppressor gene CDH1. A healthy person carrying a CDH1 mutation has a cumulative risk of developing gastric cancer of 70-80%. In most cases, gastric cancer is detected before the age of 40 years. The effectiveness of screening for hereditary diffuse gastric cancer or early detection with twice-yearly upper GI endoscopy with blind biopsies is highly questionable. Given the poor prognosis of patients with hereditary diffuse gastric cancer, prophylactic gastrectomy can be considered an option for patients with a CDH1 mutation. It is recommended that the supervision, screening and possible preventative gastrectomy for hereditary diffuse gastric cancers are handled by a multidisciplinary team in a specialised centre

Randomized trial of a shared decision-making intervention consisting of trade-offs and individualized treatment information for BRCA1/2 mutation carriers.

Contains fulltext : 57884.pdf (publisher's version ) (Open Access)PURPOSE: To evaluate a shared decision-making intervention (SDMI) for BRCA1/2 mutation carriers who have to make a choice between screening and prophylactic surgery for breasts and/or ovaries. PATIENTS AND METHODS: The SDMI consisted of two value assessment sessions, using the time trade-off method, followed by individualized treatment information based on (quality-adjusted) life expectancy. After the baseline assessment (2 weeks after a positive DNA test result), women were randomly assigned to the SDMI group (n = 44), receiving the SDMI 2 months after the test result, or to the control group (n = 44). The short- and long-term effects, 3 and 9 months after the test result, were assessed using questionnaires. Data were collected on well-being, treatment choice, and decision-related outcomes. RESULTS: In the short term, the SDMI had no effect. In the long term, with respect to well-being, patients in the SDMI group had less intrusive thoughts (P =.05) and better general health (P =.01) and tended to be less depressed (P =.07). With respect to decision-related outcomes for the breasts, the SDMI group held stronger preferences (P =.02) and agreed more strongly to having weighed the pros and cons (P =.01). No effect was found on treatment choice. In the long term, interaction effects between the SDMI and cancer history were found. The SDMI showed an overall beneficial effect for unaffected women, whereas affected women tended to experience detrimental effects. CONCLUSION: We conclude that the SDMI improved decision making in unaffected BRCA1/2 mutation carriers. Supporting decision making in a systematic way using trade-offs is beneficial for these women

[Tumour examination to detect hereditary colorectal cancer]

- Lynch syndrome is the most common cause of hereditary intestinal cancer, with a 30-70% risk of colorectal cancer (CRC).- Prevention of CRC by colonoscopy in family members with Lynch syndrome is highly effective; therefore, it is important to trace as many people with this syndrome as possible.- Criteria have been developed in the Netherlands to increase detection of hereditary colorectal cancer in a practically feasible and cost-effective way. Based on these criteria, the pathologist can perform microsatellite instability testing in patients recently diagnosed with CRC.- The criteria are: CRC under the age of 50, second CRC under the age of 70, or CRC under the age of 70 with a concurrent or previous malignancy associated with Lynch syndrome.- For family members and patients diagnosed with CRC more than a year ago, a digital test can be used to determine whether genetic counselling by a geneticist is indicated (www.umcn.nl/verwijzers)

Atorvastatin, diabetic dyslipidemia, and cognitive functioning.

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