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4 results on '"Eerola, H"'

1. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

Author

Antoniou, AC, Cunningham, AP, Peto, J, Evans, DG, Lalloo, F, Narod, SA, Risch, HA, Eyfjord, JE, Hopper, JL, Southey, MC, Olsson, H, Johannsson, O, Borg, A, Passini, B, Radice, P, Manoukian, S, Eccles, DM, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tryggvadottir, L, Syrjakoski, K, Kallioniemi, O-P, Eerola, H, Nevanlinna, H, Pharoah, PDP, and Easton, DF

Subjects
Breast Cancer, Ovarian Cancer, Cancer, Genetics, Genetic Testing, Rare Diseases, Prevention, Aetiology, 2.1 Biological and endogenous factors, 2.2 Factors relating to the physical environment, 2.6 Resources and infrastructure (aetiology), Adult, Age Factors, Aged, Breast Neoplasms, Female, Genes, BRCA1, Genes, BRCA2, Genetic Carrier Screening, Genetic Predisposition to Disease, Humans, Middle Aged, Models, Genetic, Mutation, Neoplasms, Second Primary, Ovarian Neoplasms, BRCA1, BRCA2, cancer risk model, genetic testing, Oncology and Carcinogenesis, Public Health and Health Services, Oncology & Carcinogenesis
Abstract

Multiple genetic loci confer susceptibility to breast and ovarian cancers. We have previously developed a model (BOADICEA) under which susceptibility to breast cancer is explained by mutations in BRCA1 and BRCA2, as well as by the joint multiplicative effects of many genes (polygenic component). We have now updated BOADICEA using additional family data from two UK population-based studies of breast cancer and family data from BRCA1 and BRCA2 carriers identified by 22 population-based studies of breast or ovarian cancer. The combined data set includes 2785 families (301 BRCA1 positive and 236 BRCA2 positive). Incidences were smoothed using locally weighted regression techniques to avoid large variations between adjacent intervals. A birth cohort effect on the cancer risks was implemented, whereby each individual was assumed to develop cancer according to calendar period-specific incidences. The fitted model predicts that the average breast cancer risks in carriers increase in more recent birth cohorts. For example, the average cumulative breast cancer risk to age 70 years among BRCA1 carriers is 50% for women born in 1920-1929 and 58% among women born after 1950. The model was further extended to take into account the risks of male breast, prostate and pancreatic cancer, and to allow for the risk of multiple cancers. BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html).

Published
2008

2. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Author

Antoniou, AC, Pharoah, PDP, Narod, S, Risch, HA, Eyfjord, JE, Hopper, JL, Olsson, H, Johannsson, O, Borg, A, Pasini, B, Radice, P, Manoukian, S, Eccles, DM, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tulinius, H, Thorlacius, S, Eerola, H, Nevanlinna, H, Syrjäkoski, K, Kallioniemi, O-P, Thompson, D, Evans, C, Peto, J, Lalloo, F, Evans, DG, and Easton, DF

Subjects
Breast Cancer, Ovarian Cancer, Rare Diseases, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Breast Neoplasms, Female, Founder Effect, Genes, BRCA1, Genes, BRCA2, Heterozygote, Humans, Incidence, Jews, Meta-Analysis as Topic, Middle Aged, Mutation, Ovarian Neoplasms, Penetrance, Prevalence, Risk Assessment, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.

Published
2005

3. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies

Author

Easton, D, McGuffog, L, Thompson, D, Dunning, AJ, Tee, L, Baynes, C, Healey, C, Pharoah, P, Ponder, BAJ, Seal, S, Barfoot, R, Sodha, N, Eeles, R, Stratton, MR, Rahman, N, Peto, J, Spurdle, AB, Chen, X, Chenevix-Trench, G, Hopper, JL, Giles, GG, McCredie, MRE, Syrjakoski, K, Holli, K, Kallioniemi, O-P, Eerola, H, Vahteristo, P, Blomqvist, C, Nevanlinna, H, Kataja, V, Mannermaa, A, Dork, T, Bremer, M, Deviljee, P, de Bock, GH, Krol-Warmerdam, EMM, Kroese-Jansema, K, Wijers-Koster, P, Cornelisse, CJ, Tollenaart, RAEM, Meijers-Heijboer, EJ, Berns, Els, Nagel, J, Foekens, John, Klijn, Jan, Schutte, Mieke, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Life Course Epidemiology (LCE), Human Genetics, Clinical Genetics, and Medical Oncology

Subjects
Adult, LI-FRAUMENI-SYNDROME, PENETRANCE, Genotype, Breast Neoplasms, Protein Serine-Threonine Kinases, SDG 3 - Good Health and Well-being, Risk Factors, Odds Ratio, Genetics, Humans, Genetic Predisposition to Disease, BRCA2 MUTATIONS, skin and connective tissue diseases, Genetics (clinical), POPULATION, CHEK2, Aged, Sequence Deletion, RISK, WOMEN, Articles, Middle Aged, SERIES, GENE, Gene Expression Regulation, Neoplastic, Checkpoint Kinase 2, Genetics, Population, Case-Control Studies, Female, CHECKPOINT
Abstract

Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the variant in other situations is uncertain. To evaluate the breast cancer risk associated with this variant, 10,860 breast cancer cases and 9,065 controls from 10 case-control studies in five countries were genotyped. CHEK2*1100delC was found in 201 cases (1.9%) and 64 controls (0.7%) (estimated odds ratio 2.34; 95% CI 1.72–3.20; P=.0000001). There was some evidence of a higher prevalence of CHEK2*1100delC among cases with a first-degree relative affected with breast cancer (odds ratio 1.44; 95% CI 0.93–2.23; P=.10) and of a trend for a higher breast cancer odds ratio at younger ages at diagnosis (P=.002). These results confirm that CHEK2*1100delC confers an increased risk of breast cancer and that this risk is apparent in women unselected for family history. The results are consistent with the hypothesis that CHEK2*1100delC multiplies the risks associated with susceptibility alleles in other genes to increase the risk of breast cancer.

Published
2004
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4. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition

Author

Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, La, Aaltonen, Blomqvist C, Aittomäki K, and Heli Nevanlinna

Subjects
Adult, Male, Protein Serine-Threonine Kinases, Genes, p53, Pedigree, Li-Fraumeni Syndrome, Checkpoint Kinase 2, Neoplasms, Checkpoint Kinase 1, Mutation, Humans, Female, Genetic Predisposition to Disease, Protein Kinases, Aged
Abstract

Germ-line mutations in the p53 gene predispose individuals to Li-Fraumeni syndrome (LFS). The cell cycle checkpoint kinases CHK1 and CHK2 act upstream of p53 in DNA damage responses, and recently rare germ-line mutations in CHK2 were reported in LFS families. We have analyzed CHK1, CHK2, and p53 genes for mutations in 44 Finnish families with LFS, Li-Fraumeni-like syndrome, or families phenotypically suggestive of LFS with conformation-sensitive gel electrophoresis. Five different disease-causing mutations were observed in 7 families (7 of 44 families; 15.9%): 4 in the p53 gene (5 of 44 families; 11.4%) and 1 in the CHK2 gene (2 of 44 families; 4.5%). Interestingly, the other CHK2-mutation carrier also has a mutation in the MSH6 gene. The cancer phenotype in the CHK2-families was not characteristic of LFS, and may indicate variable phenotypic expression in the rare families with CHK2 mutations. No mutations in the CHK1 gene were identified. Additional work is necessary to completely unravel the molecular background of LFS.

Published
2001

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