Genomes and Genes
Roger L Milne
- The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne
Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Clin Cancer Res 14:2861-9. 2008..We aimed to estimate these penetrances for women attending genetic counseling units in Spain...
- Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control studyRoger L Milne
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
Breast Cancer Res 12:R110. 2010....
- Variants in the ATM gene and breast cancer susceptibilityRoger L Milne
Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Center CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Genome Med 1:12. 2009..Other studies have evaluated associations for coding variants with intermediate frequency (1-5%), but the results are inconsistent. Larger and/or combined association studies are needed to clarify this issue...
- CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family StudyJiun Horng Chang
Centre for Genetic Epidemiology, The University of Melbourne, Victoria, Australia
Breast Cancer Res 7:R513-21. 2005..We attempted to replicate the findings of studies assessing such interactions with the -34T-->C polymorphism...
- Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersRoger L Milne
Grupo de Epidemiología Genética y Molecular, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fernández Almagro, Madrid, Spain
Breast Cancer Res Treat 119:221-32. 2010..Whether later age at first birth is also protective for ovarian cancer in mutation carriers requires further confirmation...
- Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042Roger L Milne
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, 29029 Madrid, Spain
J Natl Cancer Inst 101:1012-8. 2009..We attempted to confirm this association using the Breast Cancer Association Consortium...
- 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association ConsortiumRoger L Milne
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre, CNIO, Calle Melchor Fernandez Almagro 3, 28039 Madrid, Spain
J Med Genet 48:698-702. 2011..The authors have now assessed this association more comprehensively using 16 independent case-control studies...
- Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancerRoger L Milne
Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre CNIO, Madrid, Spain
Cancer Epidemiol Biomarkers Prev 20:2222-31. 2011..We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium...
- The importance of replication in gene-gene interaction studies: multifactor dimensionality reduction applied to a two-stage breast cancer case-control studyRoger L Milne
National Genotyping Centre, Spanish National Cancer Research Centre, Madrid 28029, Spain
Carcinogenesis 29:1215-8. 2008..Just as for genetic main effects, the replication of positive findings in additional independent series is essential...
- Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studiesEva Barroso
Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
BMC Cancer 8:385. 2008..In this study, the VDR gene has been evaluated in two epithelial cancers BC and MM...
- A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancerJuan Manuel Rosa-Rosa
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Melchor Fernandez Almagro 3, Madrid, 28029, Spain
Breast Cancer Res Treat 118:151-9. 2009..Although we have not found any deleterious mutations in the coding region of these genes, data from STR markers confirm 11q13 as a candidate region to contain a breast cancer susceptibility gene...
- Risk of pancreatic cancer in breast cancer families from the breast cancer family registryEvelina Mocci
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
Cancer Epidemiol Biomarkers Prev 22:803-11. 2013..The aim of this study was to estimate pancreatic cancer risk in high-risk breast cancer families according to the BRCA mutation status...
- Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selectionGloria Ribas
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre CNIO, Madrid, Spain
Eur J Hum Genet 16:252-60. 2008..4); however, these genes did not show evidence of positive selection. Finally, we found no evidence that the haplotypes formed by SNPs in the 20 genes are associated with breast cancer...
- Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX familiesEmiliano Honrado
Department of Human Genetics, Spanish National Cancer Centre, Melchor Fernandez Almagro 3, Madrid, Spain
Mod Pathol 20:1298-306. 2007..In addition we have defined a subset of them that have somatic inactivation of the BRCA1 gene...
- Pigmentation-related genes and their implication in malignant melanoma susceptibilityLara P Fernandez
Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid E 28029, Spain
Exp Dermatol 18:634-42. 2009..We also found that several variants in the pigmentation genes considered were associated with intermediate phenotypic characteristics. Our findings highlight the potential importance of pigmentation genes in sporadic MM susceptibility...
- Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinomaSergio Ruiz-Llorente
Hereditary Endocrine Cancer Group, Human Genetics Group, Biomedical Research Institute, CSIC, UAM, Madrid, Spain
Cancer Res 67:9561-7. 2007..These results highlight the utility of association studies using homogeneous series of cases for better understanding complex diseases...
- Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genesGloria Ribas
Grupo de Genética Humana Programa de Patología Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fdz Almagro 3, E 28029 Madrid, Spain
Hum Genet 118:669-79. 2006..Our results show generally high concordance with HapMap data in allele frequencies and haplotype distributions and confirm the applicability of HapMap SNP data to the study of complex diseases among the Spanish population...
- DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersAna Osorio
Human Genetics Group, Spanish National Cancer Centre CNIO, Madrid, Spain Biomedical Network on Rare Diseases CIBERER, Madrid, Spain
PLoS Genet 10:e1004256. 2014..12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied...
- Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinomaAlberto Cascon
Hereditary Endocrine Cancer Group, Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Melchor Fernandez Almagro 3, E 28029 Madrid, Spain
J Clin Endocrinol Metab 90:2127-30. 2005..Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC...
- Genetic Variation in the TP53 Pathway and Bladder Cancer Risk. A Comprehensive AnalysisSilvia Pineda
Spanish National Cancer Research Center CNIO, Madrid, Spain
PLoS ONE 9:e89952. 2014..We carried out an in depth assessment of associations between common germline variants in the TP53 pathway and bladder cancer risk...
- Pancreatic cancer risk and levels of trace elementsAndré F S Amaral
Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre CNIO, C Melchor Fernandez Almagro 3, Madrid, Spain
Gut 61:1583-8. 2012..Among other carcinogens, tobacco contains cadmium, a metal previously associated with an increased risk of EPC. This study evaluated the association between concentrations of trace elements in toenails and EPC risk...
- The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family RegistryRoger L Milne
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
Int J Epidemiol 40:1342-54. 2011..We hypothesized that unaffected sisters may provide a more appropriate comparison group than unrelated population controls...
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
Am J Hum Genet 82:937-48. 2008....
- The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosisFuencisla Matesanz
Instituto de Parasitologia y Biomedicina Lopez Neyra, Consejo Superior de Investigaciones Cientificas, Granada, Spain
J Neuroimmunol 195:146-50. 2008..94; P-value = 0.007) as was the G variant of N28D, but no association was found for rs11264799/FCRL3_4. Haplotype analysis confirmed these associations with highly consistent effect sizes for haplotypes carrying the C allele of FCRL3_3...
- Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristicsMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America
PLoS Genet 4:e1000054. 2008..Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment...
- The HER2 I655V polymorphism and risk of breast cancer in women < age 40 yearsKaren G Montgomery
Cancer Genetics Laboratory, Victorian Breast Cancer Research Consortium, Peter MacCallum Cancer Institute, St Andrews Place, East Melbourne, Victoria 3002, Australia
Cancer Epidemiol Biomarkers Prev 12:1109-11. 2003..3-6.2; P = 0.005), gave the best fit under parsimony. Although the biological role of the I655V polymorphism is not known, large independent studies of early onset breast cancer are warranted to attempt to replicate this finding...
- Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutationsRoger L Milne
Centre for Genetic Epidemiology, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 14:350-6. 2005..Recent oral contraceptive use has been associated with a small increase in breast cancer risk and a substantial decrease in ovarian cancer risk. The effects on risks for women with germ line mutations in BRCA1 or BRCA2 are unclear...
- A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancerJohn L Hopper
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia
Hum Mutat 26:298-302. 2005....
- No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 yearsValerie McGuire
Department of Health Research and Policy, Stanford University School of Medicine, Health Research and Stanford, CA 94305 5405, USA
Cancer Epidemiol Biomarkers Prev 15:1565-7. 2006
- BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50Robert W Haile
Department of Preventive Medicine, University of Southern California Keck School of Medicine, 1441 Eastlake Avenue, MS 9175, Los Angeles, CA 90089 9175, USA
Cancer Epidemiol Biomarkers Prev 15:1863-70. 2006..Understanding the effect of oral contraceptives on risk of breast cancer in BRCA1 or BRCA2 mutation carriers is important because oral contraceptive use is a common, modifiable practice...
- A common coding variant in CASP8 is associated with breast cancer riskAngela Cox
Sheffield University Medical School, Sheffield S10 2RX, UK
Nat Genet 39:352-8. 2007..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
- Immunohistochemical expression of DNA repair proteins in familial breast cancer differentiate BRCA2-associated tumorsEmiliano Honrado
Human Genetics Department Centro Nacional Investigaciones Oncológicas Melchor Fernández Almagro, 3 28029 Madrid, Spain
J Clin Oncol 23:7503-11. 2005..Because BRCA1 and BRCA2 genes participate in the DNA repair pathway, we have performed an immunohistochemical study with markers related to this pathway to establish the profile of the three groups...
- Genome-wide association study identifies novel breast cancer susceptibility lociDouglas F Easton
CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
Nature 447:1087-93. 2007..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
- IL2RA/CD25 polymorphisms contribute to multiple sclerosis susceptibilityFuencisla Matesanz
J Neurol 254:682-4. 2007
- An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)Georgia Chenevix-Trench
Queensland Institute for Medical Research, Brisbane, Australia
Breast Cancer Res 9:104. 2007....
- Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish womenJosé I Martínez-Ferrandis
Laboratorio de Genetica Molecular, Centro de Investigacion Principe Felipe, Valencia, Spain
Cancer Biomark 3:89-93. 2007..A decreased efficiency of DcR2 to work as decoy receptor for TRAIL, would facilitate the apoptotic pathway in cells at risk...
- Prognosis of premenopausal breast cancer and childbirth prior to diagnosisKelly Anne Phillips
Peter MacCallum Cancer Centre, University of Melbourne, Carlton, Victoria 3053, Australia
J Clin Oncol 22:699-705. 2004..The time interval between last childbirth and subsequent breast cancer diagnosis is emerging as an important prognostic factor for premenopausal women...
- Obesity and outcomes in premenopausal and postmenopausal breast cancerSherene Loi
Peter MacCallum Cancer Centre, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 14:1686-91. 2005..Obesity is associated with adverse outcomes in postmenopausal women with breast cancer. In premenopausal women, the association is less clear...
- Agreement between self-reported breast cancer treatment and medical records in a population-based Breast Cancer Family RegistryKelly Anne Phillips
Peter MacCallum Cancer Centre
J Clin Oncol 23:4679-86. 2005..Although self-report data on treatment for breast cancer are collected in some large epidemiologic studies, their accuracy is unknown...
- An inverse association between ovarian cysts and breast cancer in the breast cancer family registryJulia A Knight
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
Int J Cancer 118:197-202. 2006..Further study of ovarian cysts may increase our understanding of hormonal and other mechanisms of breast cancer etiology...
- Medical radiation exposure and breast cancer risk: findings from the Breast Cancer Family RegistryEsther M John
Northern California Cancer Center, Fremont, CA 94538, USA
Int J Cancer 121:386-94. 2007..Given the widespread and increasing use of medical diagnostic radiation, continued surveillance of breast cancer risk is warranted, particularly in women at specific genetic risk, such as those carrying mutations in BRCA1 or BRCA2...
- A twin study of genetic influences on epilepsy outcomeMichael R Johnson
Epilepsy Research Institute and Department of Medicine Neurology, University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Australia
Twin Res 6:140-6. 2003..The observed high correlations for outcome suggest that, for epilepsy, susceptibility genes also have a major influence on outcome...
- Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaborationLata Vadlamudi
Epilepsy Research Centre, Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Epilepsia 47:550-5. 2006..We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology...
- Mammographic densities during the menopausal transition: a longitudinal study of Australian-born womenJanet R Guthrie
Office for Gender and Health, Department of Psychiatry, The University of Melbourne, and St Vincent s BreastScreen, St Vincent s Hospital, Victoria, Australia
Menopause 14:208-15. 2007..The objective of this study was to investigate hormonal and other factors associated with mammographic density during the menopausal transition and in postmenopause...
- Psychosocial factors and survival of young women with breast cancer: a population-based prospective cohort studyKelly Anne Phillips
Division of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, University of Melbourne, Carlton, Victoria 3053, Australia
J Clin Oncol 26:4666-71. 2008..Most women with early-stage breast cancer believe that psychosocial factors are an important influence over whether their cancer will recur. Studies of the issue have produced conflicting results...