Dataset Information

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

ABSTRACT: BACKGROUND:Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. METHODS:The authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. RESULTS:For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24?154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01). CONCLUSION:This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

SUBMITTER: Milne RL

PROVIDER: S-EPMC3371608 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature

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7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

Milne Roger L RL Lorenzo-Bermejo Justo J Burwinkel Barbara B Malats Núria N Arias Jose Ignacio JI Zamora M Pilar MP Benítez Javier J Humphreys Manjeet K MK García-Closas Montserrat M Chanock Stephen J SJ Lissowska Jolanta J Sherman Mark E ME Mannermaa Arto A Kataja Vesa V Kosma Veli-Matti VM Nevanlinna Heli H Heikkinen Tuomas T Aittomäki Kristiina K Blomqvist Carl C Anton-Culver Hoda H Ziogas Argyrios A Devilee Peter P van Asperen Christie J CJ Tollenaar Rob A E M RA Seynaeve Caroline C Hall Per P Czene Kamila K Liu Jianjun J Irwanto Astrid K AK Kang Daehee D Yoo Keun-Young KY Noh Dong-Young DY Couch Fergus J FJ Olson Janet E JE Wang Xianshu X Fredericksen Zachary Z Nordestgaard Børge G BG Bojesen Stig E SE Flyger Henrik H Margolin Sara S Lindblom Annika A Fasching Peter A PA Schulz-Wendtland Ruediger R Ekici Arif B AB Beckmann Matthias W MW Wang-Gohrke Shan S Shen Chen-Yang CY Yu Jyh-Cherng JC Hsu Huan-Ming HM Wu Pei-Ei PE Giles Graham G GG Severi Gianluca G Baglietto Laura L English Dallas R DR Cox Angela A Brock Ian I Elliott Graeme G Reed Malcolm W R MW Beesley Jonathan J Chen Xiaoqing X Investigators Kconfab K Fletcher Olivia O Gibson Lorna L dos Santos Silva Isabel I Peto Julian J Frank Bernd B Heil Joerg J Meindl Alfons A Chang-Claude Jenny J Hein Rebecca R Vrieling Alina A Flesch-Janys Dieter D Southey Melissa C MC Smith Letitia L Apicella Carmel C Hopper John L JL Dunning Alison M AM Pooley Karen A KA Pharoah Paul D P PD Hamann Ute U Pesch Beate B Ko Yon-Dschun YD Easton Douglas F DF Chenevix-Trench Georgia G

Journal of medical genetics 20111001 10

<h4>Background</h4>Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies.<h4>Methods</h4>The authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects ...[more]

PMID: 21931171

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Project description:BackgroundBreast cancer ranks first in women, and is the second cause of death in this gender. In addition to genetics, the environment contributes to the development of the disease, although the factors involved are not well known. Among the latter is the influence of microorganisms and, therefore, attention is recently being paid to the mammary microbiota. We hypothesize that the risk of breast cancer could be associated with the composition and functionality of the mammary/gut microbiota, and that exposure to environmental contaminants (endocrine disruptors, EDCs) might contribute to alter these microbiota.MethodsWe describe a case-control clinical study that will be performed in women between 25 and 70 years of age. Cases will be women diagnosed and surgically intervened of breast cancer (stages I and II). Women with antecedents of cancer or advanced tumor stage (metastasis), or who have received antibiotic treatment within a period of 3 months prior to recruitment, or any neoadjuvant therapy, will be excluded. Controls will be women surgically intervened of breast augmentation or reduction. Women with oncological, gynecological or endocrine history, and those who have received antibiotic treatment within a period of 3 months prior to recruitment will also be excluded. Blood, urine, breast tissue and stool samples will be collected. Data regarding anthropometric, sociodemographic, reproductive history, tumor features and dietary habits will be gathered. Metabolomic studies will be carried out in stool and breast tissue samples. Metagenomic studies will also be performed in stool and breast tissue samples to ascertain the viral, fungal, bacterial and archaea populations of the microbiota. Quantitation of estrogens, estrogen metabolites and EDCs in samples of serum, urine and breast tissue will also be performed.DiscussionThis is the first time that the contribution of bacteria, archaea, viruses and fungi together with their alteration by environmental contaminants to the risk of breast cancer will be evaluated in the same study. Results obtained could contribute to elucidate risk factors, improve the prognosis, as well as to propose novel intervention studies in this disease.Trial registrationClinicalTrials.gov NCT03885648 , 03/25/2019. Retrospectively registered.

Project description:BackgroundBreast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results are conflicting. In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population.MethodsA case control study was performed on 60 breast cancer patients and 68 healthy women. The ABCB1 C3435T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Furthermore, a meta-analysis including 16 studies with 6094 cases of breast cancer and 8646 controls was performed.ResultsGenotype frequencies were 50 % for CC, 33.3 % for CT and 16.7 % for TT in patients and 41.2 % for CC, 48.5 % for CT and 10.3 % for TT respectively in the control group. This difference was not statistically significant. The same trend as observed in the allele distribution between patients and controls (P = 0.84). Findings from the meta-analysis showed that the ABCB1 C3435T polymorphism was not associated with an increased risk of breast cancer in the dominant model (OR = 0.907; 95 % CI = 0.767-1.073; P = 0.25) as well as in the recessive model (OR = 1.181; 95 % CI = 0.973-1.434; P = 0.093) and in the allele contrast model (OR = 1.098; 95 % CI = 0.972-1.240; P = 0.133). However, the stratification of studies on ethnic basis showed that the TT genotype was associated with the risk of breast cancer in Asians (OR = 1.405; 95 % CI = 1.145-1.725; P = 0.001), Caucasians (OR = 1.093; 95 % CI = 1.001-1.194; P = 0.048) and North African (OR = 2.028; 95 % CI = 1.220-3.371; P = 0.006).ConclusionsWe have noted that the implication of C3435T variant on the risk of breast cancer was ethnicity-dependent. However, there is no evidence that ABCB1 C3435T polymorphism could play a role in susceptibility to breast cancer in Morocco. Further studies with a larger sample size, extended to other polymorphisms are needed to understand the influence of ABCB1 genetic variants on the risk of breast cancer.

Dataset Information

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

Publications

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

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