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The potential value of genetic data in quality of life research in oncology Present Francesca Martinelli ? Quality of Life Department European Organisation for Research and Treatment of Cancer EORTC Headquarters Brussels, Belgium Europe 2009 Present Early detection 22 Member States are running or establishing populationbased screening programmes for breast cancer; 15 Member States are running or establishing populationbased screening programmes for cervical cancer; 12 Member States are running or establishing populationbased screening programmes for colorectal cancer. (Screening programmes…) Source: European Commission Diagnosis anticipation Mortality reduction Puliti et al (2008): Effectiveness of service screening: a case-control study to assess breast cancer mortality reduction. Br J Cancer. 2008 Aug 5;99(3):423-7. Cost Population Ethical issues Present Present ? Vaccination (Papillomavirus…) Future Future ? http://www.webweaver.nu Future I everything Is thi written itt in i our genes? ? Genetics Something at least… Gregor Mendel (1822-1884) The “father father of modern genetics genetics” Showed that the inheritance of certain traits in pea plants follows particular laws. In his data, Mendel saw approximately a 3:1 ratio of one phenotype to another. brown hair brown hair brown hair brown hair blond hair brown hair brown hair brown hair brown hair brown hair green eyes green eyes left-handed green eyes green eyes green eyes green eyes green eyes green eyes left-handed left-handed brown eyes green eyes left-handed left-handed left-handed left-handed left-handed left-handed left-handed right-handed green eyes green eyes brown eyes green eyes blond hair brown hair brown hair brown hair How can genetic and genomic information be used for risk identification? Family history Histological features Moderate-penetrance genes Low-penetrance genes … Calzone et al (2010): The application of genetics and genomics to cancer prevention. Semin Oncol. 2010 Aug;37(4):407-18. left-handed left-handed right-handed What about cancer susceptibility? Advanced in technology have accelerated the translation of genetics and genomics into the arena of cancer prevention (Calzone et al, 2010) and care. In a near future, not only it may be possible to identify at-risk individuals, but also to better understand the underlying biology of the cancer. Example: candidates for testing for BRAC1 and BRAC2 mutations Young et al (2009): The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer. 2009 Mar 19;9:86. Genes BRCA1 and BRCA2 are the two major contributors to hereditary breast cancer. Genetic testing for these two gene mutations has been estabilished throughout North America and much of Europe. In general, testing is offered to a woman that has a probabilit for being positi probability positive e for a m mutation tation ≥ 10%. 10% Mathematical models can be used to estimate the prior probability of having a mutation; these models consider ageof-onset and family history of cancer. However, certain characteristics of breast cancer can also be used to help predict the presence of a mutation. Women with triple-negative breast cancer are expected to be enriched for BRCA1-mutation carriers. Is our perception of Health-Related Quality of Life (HRQoL) influenced by genes? Studies already link genetics and HRQoL, without linking them. Growing interest in the subject Doctors will eventually use genetic patterns for several tasks: to tell whether a cancer will spread, to predict how various therapies such as specific drugs or radiation will work, and perhaps even to see how someone’s QOL will be affected (Sloan and Zhao, 2006). Example: pain Sprangers et al (2009): The establishment of the GENEQOL consortium to investigate the genetic disposition of patient-reported quality-of-life outcomes. Twin Res Hum Genet. 2009 Jun;12(3):301-11. In this study, the proportion of mutation carriers for these genes was estimated among women diagnosed at age 40 or younger with triple-negative breast cancer without a significant family history of cancer. N=54 women were studied. Six deleterious mutations were identified in the 54 patients (11%): five in BRCA1 and one in BRCA2. These data support the position that early-onset triplenegative breast cancer is an indicator that can be used to help to identify candidates for BRCA1 mutation testing. Young women with a high-grade triple-negative cancer and no family history of cancer may be candidates for genetic testing. Recent research has suggested a genetic predisposition for some psychological parameters: dep ess o depression suicide alcoholism, smoking, aggression … There are several ways pain perception could be determined by genes. Reduced activity of the gene COMT, that mediates the inactivation of some neurotransmitters (including adrenaline), has been found to result in increased sensitivity for pain (Zubieta et al, 2003). More in general, genes associated with neurotransmission have been found to be associated with pain perception and responses to analgesics. Genes have been found to be involved in the response to analgesics including absorption, metabolism, distribution and interaction with targets of analgesics. Example: chemoradiotherapy-related toxicity Grade 3 or 4 neutropenia and grade 3 or 4 hematological toxicity in bladder cancer patients treated with platinumbased chemoradiotherapy were found to be significantly associated with some common polymorphisms in genes involved in DNA repair. Sakano et al (2010): Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. Pharmacogenomics. 2010 Oct;11(10):1377-87. Cost Ethical issues Paucity of data [email protected]