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‣ Integration of Genomics in Cancer Care

Santos, Erika Maria Monteiro; Edwards, Quannetta T.; Floria-Santos, Milena; Rogatto, Silvia Regina; Achatz, Maria Isabel Waddington; MacDonald, Deborah J.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 43-51
Português
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Purpose: The article aims to introduce nurses to how genetics-genomics is currently integrated into cancer care from prevention to treatment and influencing oncology nursing practice. Organizing Construct: An overview of genetics-genomics is described as it relates to cancer etiology, hereditary cancer syndromes, epigenetics factors, and management of care considerations. Methods: Peer-reviewed literature and expert professional guidelines were reviewed to address concepts of genetics-genomics in cancer care. Findings: Cancer is now known to be heterogeneous at the molecular level, with genetic and genomic factors underlying the etiology of all cancers. Understanding how these factors contribute to the development and treatment of both sporadic and hereditary cancers is important in cancer risk assessment, prevention, diagnosis, treatment, and long-term management and surveillance. Conclusions: Rapidly developing advances in genetics-genomics are changing all aspects of cancer care, with implications for nursing practice. Clinical Relevance: Nurses can educate cancer patients and their families about genetic-genomic advances and advocate for use of evidence-based genetic-genomic practice guidelines to reduce cancer risk and improve outcomes in cancer management. © 2013 Sigma Theta Tau International.

‣ A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer–Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics

Xu, Jianfeng; Dimitrov, Latchezar; Chang, Bao-Li; Adams, Tamara S.; Turner, Aubrey R.; Meyers, Deborah A.; Eeles, Rosalind A.; Easton, Douglas F.; Foulkes, William D.; Simard, Jacques; Giles, Graham G.; Hopper, John L.; Mahle, Lovise; Moller, Pal; Bishop,
Fonte: The American Society of Human Genetics Publicador: The American Society of Human Genetics
Tipo: Artigo de Revista Científica
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Evidence of the existence of major prostate cancer (PC)–susceptibility genes has been provided by multiple segregation analyses. Although genomewide screens have been performed in over a dozen independent studies, few chromosomal regions have been consistently identified as regions of interest. One of the major difficulties is genetic heterogeneity, possibly due to multiple, incompletely penetrant PC-susceptibility genes. In this study, we explored two approaches to overcome this difficulty, in an analysis of a large number of families with PC in the International Consortium for Prostate Cancer Genetics (ICPCG). One approach was to combine linkage data from a total of 1,233 families to increase the statistical power for detecting linkage. Using parametric (dominant and recessive) and nonparametric analyses, we identified five regions with “suggestive” linkage (LOD score >1.86): 5q12, 8p21, 15q11, 17q21, and 22q12. The second approach was to focus on subsets of families that are more likely to segregate highly penetrant mutations, including families with large numbers of affected individuals or early age at diagnosis. Stronger evidence of linkage in several regions was identified, including a “significant” linkage at 22q12...

‣ Combined Analysis of Hereditary Prostate Cancer Linkage to 1q24-25: Results from 772 Hereditary Prostate Cancer Families from the International Consortium for Prostate Cancer Genetics

Xu, Jianfeng
Fonte: The American Society of Human Genetics Publicador: The American Society of Human Genetics
Tipo: Artigo de Revista Científica
Português
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A previous linkage study provided evidence for a prostate cancer–susceptibility locus at 1q24-25. Subsequent reports in additional collections of families have yielded conflicting results. In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36. The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom. Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212. The estimated proportion of families (α) linked to the locus was .06 (1-LOD support interval .01–.12). This evidence was not observed by a nonparametric approach, presumably because of the extensive heterogeneity. Further parametric analysis revealed a significant effect of the presence of male-to-male disease transmission within the families. In the subset of 491 such families, the peak HLOD was 2.56 (P=.0006) and α = .11 (1-LOD support interval .04–.19)...

‣ Cultural aspects of cancer genetics: setting a research agenda

Meiser, B.; Eisenbruch, M.; Barlow-Stewart, K.; Tucker, K.; Steel, Z.; Goldstein, D.
Fonte: BMJ Group Publicador: BMJ Group
Tipo: Artigo de Revista Científica
Publicado em /07/2001 Português
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BACKGROUND—Anecdotal evidence suggests that people from non-Anglo-Celtic backgrounds are under-represented at familial cancer clinics in the UK, the USA, and Australia. This article discusses cultural beliefs as a potential key barrier to access, reviews previous empirical research on cultural aspects of cancer genetics, draws implications from findings, and sets a research agenda on the inter-relationships between culture, cancer genetics, and kinship.
METHODS—The CD-ROM databases MEDLINE, PsychLIT, CINAHL, and Sociological Abstracts were searched from 1980 onwards.
RESULTS—Cultural aspects of cancer genetics is the focus of an emerging body of publications. Almost all studies assessed African-American women with a family history of breast cancer and few studies included more diverse samples, such as Americans of Ashkenazi Jewish background or Hawaiian- and Japanese-Americans. Our analysis of published reports suggests several directions for future research. First, an increased focus on various Asian societies appears warranted. Research outside North America could explore the extent to which findings can be replicated in other multicultural settings. In addition, control group designs are likely to benefit from systematically assessing culture based beliefs and cultural identity in the "majority culture" group used for comparative purposes.
CONCLUSION—More data on which to base the provision of culturally appropriate familial cancer clinic services to ethnically diverse societies are needed. Empirical data will assist with culturally appropriate categorisation of people from other cultures into risk groups based on their family histories and provide the basis for the development of culturally appropriate patient education strategies and materials.


Keywords: hereditary cancer; kinship; culture; family history; cultural competence

‣ A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics

Wonderling, D; Hopwood, P; Cull, A; Douglas, F; Watson, M; Burn, J; McPherson, K
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em /07/2001 Português
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The objective was to describe NHS cancer genetic counselling services and compare UK regions. The study design was a cross-sectional study over 4 weeks and attendee survey. The setting was 22 of the 24 regional cancer genetics services in the UK NHS. Participants were individuals aged over 18 attending clinics at these services. Outcome measures were staff levels, referral rates, consultation rates, follow-up plans, waiting time. There were only 11 dedicated cancer geneticists across the 22 centres. Referrals were mainly concerned with breast (63%), bowel (18%) and ovarian (12%) cancers. Only 7% of referrals were for men and 3% were for individuals from ethnic minorities. Referral rates varied from 76 to 410 per million per annum across the regions. Median waiting time for an initial appointment was 19 weeks, ranging across regions from 4 to 53 weeks. Individuals at population-level genetic risk accounted for 27% of consultations (range 0%, 58%). Shortfalls in cancer genetics staff and in the provision of genetic testing and cancer surveillance have resulted in large regional variations in access to care. Initiatives to disseminate referral and management guidelines to cancer units and primary care should be adequately resourced so that clinical genetics teams can focus on the genetic testing and management of high-risk families. © 2001 Cancer Research Campaign http://www.bjcancer.com

‣ COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

Tomlinson, I P M; Dunlop, M; Campbell, H; Zanke, B; Gallinger, S; Hudson, T; Koessler, T; Pharoah, P D; Niittymäkix, I; Tuupanenx, S; Aaltonen, L A; Hemminki, K; Lindblom, A; Försti, A; Sieber, O; Lipton, L; van Wezel, T; Morreau, H; Wijnen, J T; Devile
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
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It is now recognised that a part of the inherited risk of colorectal cancer (CRC) can be explained by the co-inheritance of low-penetrance genetic variants. The accumulated experience to date in identifying these variants has served to highlight difficulties in conducting statistically and methodologically rigorous studies and follow-up analyses. The COGENT (COlorectal cancer GENeTics) consortium includes 20 research groups in Europe, Australia, the Americas, China and Japan. The overarching goal of COGENT is to identify and characterise low-penetrance susceptibility variants for CRC through association-based analyses. In this study, we review the rationale for identifying low-penetrance variants for CRC and our proposed strategy for establishing COGENT.

‣ Challenges in recruiting Mexican women for cancer genetics research

Quinn, Gwendolyn P.; McIntyre, Jessica Q.; Vadaparampil, Susan T.
Fonte: Springer-Verlag Publicador: Springer-Verlag
Tipo: Artigo de Revista Científica
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Hispanic women often have low participation rates in cancer genetics research. Additionally, Hispanic sub-ethnicities may have varying accrual rates based on unique cultural factors. Hispanic women were recruited through flyers placed in the Tampa Bay Community to participate in an interview about knowledge of hereditary breast and ovarian cancer. The study goal was to recruit 20 women from each Hispanic sub-ethnicity: Puerto Rican, Mexican, and Cuban. This article reports on the difficulty in recruiting Mexican women. One hundred forty-three women called the study hotline to inquire about participation. Seventy-six callers were ineligible for the study. Thirty-four percent (n = 26) of ineligibles were Mexican women; within this group, 62% (n = 16) were unable to participate because they did not know the cancer site of their first degree relative. Inclusion criteria requiring knowledge of family history of cancer for behavioral research may be too stringent. The socio-cultural norms of Mexican families may not include discussions of cancer specifics. This study demonstrates Mexican women may have limited knowledge about their family history of cancer. Considerations of these knowledge limitations should be built into cancer genetics-related research. Referral criteria to assess the risk of hereditary breast and ovarian cancer by cancer genetics professionals are predicated on the patient providing details about cancer within multiple generations of family members...

‣ Let’s talk about genes, and I dont mean trousers: encouraging cancer genetics literacy amongst children

Iredale, Rachel; Madden, Kim
Fonte: Cancer Intelligence Publicador: Cancer Intelligence
Tipo: Artigo de Revista Científica
Publicado em 27/02/2014 Português
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Acquiring genetic literacy is one of the most important things a person can do to promote their own and their family’s health. Family history—genetics and the shared environment—is a significant risk factor for cancer as well as other common diseases, such as cardiovascular disease and diabetes. A good understanding of family health history should increasingly be used to personalise health messages and promote healthy lifestyles. The Let’s Talk About Genes project explored whether it was feasible and acceptable to engage young children in Wales with family history as it relates specifically to cancer, so they increase their cancer genetics literacy over time and become more aware of general health issues that relate to cancer.

‣ Nasopharyngeal carcinoma as a paradigm of cancer genetics

Simons, Malcolm J.
Fonte: Sun Yat-sen University Cancer Center Publicador: Sun Yat-sen University Cancer Center
Tipo: Artigo de Revista Científica
Publicado em /02/2011 Português
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The unusual incidence patterns for nasopharyngeal carcinoma (NPC) in China, Northeast India, Arctic Inuit, Peninsular and island Southeast Asia, Polynesian Islanders, and North Africans indicate a role for NPC risk genes in Chinese, Chinese-related, and not-obviously Chinese-related populations. Renewed interest in NPC genetic risk has been stimulated by a hypothesis that NPC population patterns originated in Bai-Yue / pre-Austronesian–speaking aborigines and were dispersed during the last glacial maximum by Sundaland submersion. Five articles in this issue of the Chinese Journal of Cancer, first presented at a meeting on genetic aspects of NPC [National Cancer Center of Singapore (NCCS), February 20–21, 2010], are directed towards incidence patterns, to early detection of affected individuals within risk populations, and to the application of genetic technology advances to understanding the nature of high risk. Turnbull presents a general framework for understanding population migrations that underlie NPC and similar complex diseases, including other viral cancers. Trejaut et al. apply genetic markers to detail migration from East Asia through Taiwan to the populating of Island Polynesia. Migration dispersal in a westward direction took mongoloid peoples to modern day Northeast India adjacent to Western China (Xinjiang). NPC incidence in mongoloid Nagas ranks amongst the highest in the world...

‣ What hinders minority ethnic access to cancer genetics services and what may help?

Allford, Anna; Qureshi, Nadeem; Barwell, Julian; Lewis, Celine; Kai, Joe
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
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Ethnic disparities in use of cancer genetics services raise concerns about equitable opportunity to benefit from familial cancer risk assessment, improved survival and quality of life. This paper considers available research to explore what may hinder or facilitate minority ethnic access to cancer genetics services. We sought to inform service development for people of South Asian, African or Irish origin at risk of familial breast, ovarian, colorectal and prostate cancers in the UK. Relevant studies from the UK, North America and Australasia were identified from six electronic research databases. Current evidence is limited but suggests low awareness and understanding of familial cancer risk among minority ethnic communities studied. Socio-cultural variations in beliefs, notably stigma about cancer or inherited risk of cancer, are identified. These factors may affect seeking of advice from providers and disparities in referral. Achieving effective cross-cultural communication in the complex contexts of both cancer and genetics counselling, whether between individuals and providers, when mediated by third party interpreters, or within families, pose further challenges. Some promising experience of facilitating minority ethnic access has been gained by introduction of culturally sensitive provider and counselling initiatives...

‣ Ancestry, Temporality, and Potentiality: Engaging Cancer Genetics in Southern Brazil

Gibbon, Sahra
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /10/2013 Português
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In this paper I examine the variety of ways potential is articulated, entailed, and produced in how the field of cancer genetics is being constituted as a domain of transnational research and an emerging site of health-care intervention in southern Brazil. Drawing on analysis of fieldwork in Brazilian cancer-genetics clinics, I explore how different expressions of potential come to inform dynamically the pursuit of prevention, care, and research as diversely scaled investments for those working and living with cancer-genetics knowledge and technologies. It illustrates how specific temporalities help to constitute and “abductively” frame the meaning of these different potentials particularly as this relates to a focus on ancestry. Colonial histories of migration, the embodied effects of dietary habits, or the moral failings of near and distant ancestors as well as promissory futures and the contingency of lived lives become at different times templates for identifying, materializing, and transforming how the potential of cancer genetics in Brazil is articulated. Potential is also expressed through an idiom of “choice” in different efforts to situate participation in cancer-genetics research as prevention or to negotiate access to basic public health. I explore how these expressions of cancer genetics as potential powerfully yet unevenly work to sustain knowledge practices as well as propel patients and their families into fledgling domains of clinical practice and scientific research. At the same time there is always an “excess of meaning” in these endeavors that make visible lines of fracture and disjuncture in collective efforts to make future histories of and from the pursuit of cancer genetics in southern Brazil.

‣ Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Foley, Samantha B.; Rios, Jonathan J.; Mgbemena, Victoria E.; Robinson, Linda S.; Hampel, Heather L.; Toland, Amanda E.; Durham, Leslie; Ross, Theodora S.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /01/2015 Português
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Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = 82). Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency < 1% in ESP6500) in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS). Furthermore, previously reported pathogenic missense variants did not always associate with their predicted diseases in our patients. This suggests that the clinical use of WGS will require large-scale efforts to consolidate WGS and patient data to improve accuracy of interpretation of rare variants. While loss-of-function (LoF) variants represented only a small fraction of PPVs, WGS identified additional cancer risk LoF PPVs in patients with known BRCA1/2 mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients’ cancer genetic risks.

‣ Genetic Variability of the mTOR Pathway and Prostate Cancer Risk in the European Prospective Investigation on Cancer (EPIC)

Campa, Daniele; Stein, Angelika; Dostal, Lucie; Boeing, Heiner; Pischon, Tobias; Roswall, Nina; Overvad, Kim; Barricarte, Aurelio; Khaw, Kay-Tee; Wareham, Nicholas; Travis, Ruth C.; Allen, Naomi E.; Trichopoulou, Antonia; Palli, Domenico; Sieri, Sabina; T
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
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The mTOR (mammalian target of rapamycin) signal transduction pathway integrates various signals, regulating ribosome biogenesis and protein synthesis as a function of available energy and amino acids, and assuring an appropriate coupling of cellular proliferation with increases in cell size. In addition, recent evidence has pointed to an interplay between the mTOR and p53 pathways. We investigated the genetic variability of 67 key genes in the mTOR pathway and in genes of the p53 pathway which interact with mTOR. We tested the association of 1,084 tagging SNPs with prostate cancer risk in a study of 815 prostate cancer cases and 1,266 controls nested within the European Prospective Investigation into Cancer and Nutrition (EPIC). We chose the SNPs (n = 11) with the strongest association with risk (p<0.01) and sought to replicate their association in an additional series of 838 prostate cancer cases and 943 controls from EPIC. In the joint analysis of first and second phase two SNPs of the PRKCI gene showed an association with risk of prostate cancer ((OR_{allele}) = 0.85, 95% CI 0.78–0.94, p = 1.3×(10^{−3}) for rs546950 and ((OR_{allele}) = 0.84, 95% CI 0.76–0.93, p = 5.6×(10^{−4}) for rs4955720). We confirmed this in a meta-analysis using as replication set the data from the second phase of our study jointly with the first phase of the Cancer Genetic Markers of Susceptibility (CGEMS) project. In conclusion...

‣ Digital Quantification of Gene Expression in Sequential Breast Cancer Biopsies Reveals Activation of an Immune Response

Jeselsohn, Rinath M.; Werner, Lillian; Regan, Meredith M.; Fatima, Aquila; Gilmore, Lauren; Collins, Laura C.; Beck, Andrew H.; Bailey, Shannon T.; He, Housheng Hansen; Buchwalter, Gilles; Brown, Myles; Iglehart, J. Dirk; Richardson, Andrea; Come, Steven
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
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Advancements in molecular biology have unveiled multiple breast cancer promoting pathways and potential therapeutic targets. Large randomized clinical trials remain the ultimate means of validating therapeutic efficacy, but they require large cohorts of patients and are lengthy and costly. A useful approach is to conduct a window of opportunity study in which patients are exposed to a drug pre-surgically during the interval between the core needle biopsy and the definitive surgery. These are non-therapeutic studies and the end point is not clinical or pathological response but rather evaluation of molecular changes in the tumor specimens that can predict response. However, since the end points of the non-therapeutic studies are biologic, it is critical to first define the biologic changes that occur in the absence of treatment. In this study, we compared the molecular profiles of breast cancer tumors at the time of the diagnostic biopsy versus the definitive surgery in the absence of any intervention using the Nanostring nCounter platform. We found that while the majority of the transcripts did not vary between the two biopsies, there was evidence of activation of immune related genes in response to the first biopsy and further investigations of the immune changes after a biopsy in early breast cancer seem warranted.

‣ A Genome-Wide “Pleiotropy Scan” Does Not Identify New Susceptibility Loci for Estrogen Receptor Negative Breast Cancer

Campa, Daniele; Barrdahl, Myrto; Tsilidis, Konstantinos K.; Severi, Gianluca; Diver, W. Ryan; Siddiq, Afshan; Chanock, Stephen; Hoover, Robert N.; Ziegler, Regina G.; Berg, Christine D.; Buys, Saundra S.; Haiman, Christopher A.; Henderson, Brian E.; Schum
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
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Approximately 15–30% of all breast cancer tumors are estrogen receptor negative (ER−). Compared with ER-positive (ER+) disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified for numerous cancer types, only seven loci have been unambiguously identified for ER-negative breast cancer. With the aim of identifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). We selected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P<5×10−8) to perform a secondary analysis of an ER-negative GWAS from the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top ten associations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+ cases, 2543 ER− cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER-GWAS were significant at the adjusted threshold. 186 variants were associated with ER− breast cancer risk at a conventional threshold of P<0.05, with P-values ranging from 0.049 to 2.3×10−4. None of the variants reached statistical significance in the replication phase. In conclusion...

‣ MicroRNA Related Polymorphisms and Breast Cancer Risk

Khan, Sofia; Greco, Dario; Michailidou, Kyriaki; Milne, Roger L.; Muranen, Taru A.; Heikkinen, Tuomas; Aaltonen, Kirsimari; Dennis, Joe; Bolla, Manjeet K.; Liu, Jianjun; Hall, Per; Irwanto, Astrid; Humphreys, Keith; Li, Jingmei; Czene, Kamila; Chang-Claud
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
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Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88–0.96), rs1052532 (OR 0.97; 95% CI: 0.95–0.99), rs10719 (OR 0.97; 95% CI: 0.94–0.99), rs4687554 (OR 0.97; 95% CI: 0.95–0.99, and rs3134615 (OR 1.03; 95% CI: 1.01–1.05) located in the 3′ UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1...

‣ A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services

Peacock, S; Apicella, C; Andrews, L; Tucker, K; Bankier, A; Daly, M B; Hopper, J L
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
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To determine which aspects of breast cancer genetic counselling are important to Ashkenazi Jewish women, a discrete choice experiment was conducted. Participants consisted of 339 Australian Ashkenazi Jewish women who provided a blood sample for research used to test for Ashkenazi Jewish ancestral mutations in the genes BRCA1 and BRCA2, and were offered their genetic test result through a cancer genetics service. Main outcome measures were women's preferences for, and trade-offs between, the genetic counselling aspects of providing cancer, gene, and risk information (information); giving advice about cancer surveillance (surveillance); preparing for genetic testing (preparation); and, assistance with decision-making (direction). Respondents most valued information, about twice as much as advice about surveillance, four times as much as preparation for testing, and nine times as much as assistance with decision-making, which was least valued. Women's preferences were consistent with the major goals of genetic counselling, which include providing information and surveillance advice, and avoiding direction by facilitating autonomous decision-making. There were differences between the women in which aspects they most favoured, suggesting that counselling that elicits and responds to clients' preferences is more likely to meet clients' needs.

‣ Donation Intentions for Cancer Genetics Research Among African Americans

McDonald, Jasmine A.; Weathers, Benita; Barg, Frances K.; Troxel, Andrea B.; Shea, Judy A.; Bowen, Deborah; Guerra, Carmen E.; Halbert, Chanita Hughes
Fonte: Mary Ann Liebert, Inc. Publicador: Mary Ann Liebert, Inc.
Tipo: Artigo de Revista Científica
Publicado em /04/2012 Português
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Aims: Scientific agencies rely on individuals to donate their DNA to support research on chronic conditions that disproportionately affect African Americans; however, donation is variable in this population. The purpose of this study was to identify sociodemographic characteristics, health care variables, and cultural values having significant independent associations with intentions to donate blood or saliva samples for cancer genetics research among African American adults. Method: Cross-sectional survey of donation intentions. Results: The majority of respondents (73%) were willing to donate a biological sample for cancer genetics research. The results of the multivariate regression model found that respondents who received care at a facility other than a doctor's office (e.g., community center) were about five times more likely to be willing to donate a sample for cancer genetics research (odds ratio [OR]=5.28, 95% confidence interval [CI]=1.16–24.12, p=0.03); whereas, greater levels of religiosity (OR=0.09, 95% CI=0.01–0.75, p=0.02) and present temporal orientation (OR=0.23, 95% CI=0.06–0.79, p=0.02) were associated with a lower likelihood of donating a sample. Conclusion: Efforts to enhance donation of biological samples for cancer genetics research may need to target diverse clinical sites for recruitment. Additionally...

‣ Candidate locus analysis of the TERT?CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Carvajal-Carmona, Luis G.; O?Mara, Tracy A.; Painter, Jodie N.; Lose, Felicity A.; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P.; Ahmed, Shahana; Ferguson, Kaltin; Healey, Catherine S.; Pooley, Karen; Beesley, Jonathan; Cheng, Timothy; Jones, Ange
Fonte: Springer Berlin Heidelberg Publicador: Springer Berlin Heidelberg
Tipo: Article; published version
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This is the published version. It first appeared at http://link.springer.com/article/10.1007%2Fs00439-014-1515-4.; Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT?CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P = 4.9 ? 10?6 to P = 7.7 ? 10?5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data...

‣ Annotating Whole Genome Sequencing in COSMIC (The Catalogue of Somatic Mutations in Cancer)

C Y Kok; S A Forbes; N Bindal; S Bamford; C G Cole; M Jia; D Breare; R Shepherd; A Menzies; K Leung; J Teague; M R Stratton; P A Futreal
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Poster
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"COSMIC, the Catalogue Of Somatic Mutations In Cancer":http://www.sanger.ac.uk/cosmic is designed to store and display somatic mutation information relating to human cancers, combining detailed information on publications, samples and mutation types. The information is curated both from the primary literature and the laboratories at the Cancer Genome Project, Sanger Institute, UK, and then semi-automatically entered into the COSMIC database. The v47 release (May 2010) contained the curation of 9202 papers describing 116,977 mutations across 466,851 samples. In order to provide consistent annotation of the data, COSMIC has developed a classification system for cancer histology and tissue ontology, and adapted HGVS mutation nomenclature recommendations to describe the multiple mutation types involved in cancer. Cancer genetics is moving from systematic screens of candidate gene sets to whole genome sequencing analyses, and COSMIC displays and navigates this new data; we have recently included systematic gene screens and whole genome sequencing studies. COSMIC will annotate and display somatic mutation data that will be emerging from the "International Cancer Genome Consortium (ICGC)":http://www.icgc.org/ and "The Cancer Genome Atlas (TCGA)":http://cancergenome.nih.gov/ projects. New tools are being developed to interpret this genomic data with coding mutation annotations. In addition COSMIC will be expanded to curate and display data from mouse insertional mutagenesis screening and mouse cancer model exome/genome sequencing in the future. The data within COSMIC is freely available without restriction via a website...