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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)
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2007 (English)In: Breast Cancer Research, ISSN 1465-5411, E-ISSN 1465-542X, Vol. 9, no 2, article id 104Article in journal, Editorial material (Other academic) Published
Abstract [en]

BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. However, studies aimed at identifying these factors have been limited in size and statistical power, and have yet to identify any convincingly validated modifiers of the BRCA1 and BRCA2 phenotype. To generate sufficient statistical power to identify modifier genes, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) has been established. CIMBA contains about 30 affiliated groups who together have collected DNA and clinical data from approximately 10,000 BRCA1 and 5,000 BRCA2 utation carriers. Initial efforts by CIMBA to identify modifiers of breast cancer risk for BRCA1 and BRCA2 mutation carriers have focused on validation of common genetic variants previously associated with risk in smaller studies of carriers or unselected breast cancers. Future studies will involve replication of findings from pathway-based and genome-wide association studies in both unselected and familial breast cancer. The identification of genetic modifiers of breast cancer risk for BRCA1 and BRCA2 mutation carriers will lead to an improved understanding of breast cancer and may prove useful for the determination of individualized risk of cancer amongst carriers. 

Place, publisher, year, edition, pages
BioMed Central, 2007. Vol. 9, no 2, article id 104
Keywords [en]
tumor protein, allele, article, breast tumor, gene frequency, genetic predisposition, genetics, heterozygote, human, international cooperation, mutation, risk, tumor suppressor gene, Alleles, Breast Neoplasms, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Neoplasm Proteins
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Cancer and Oncology
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URN: urn:nbn:se:hj:diva-39679DOI: 10.1186/bcr1670ISI: 000247760500003PubMedID: 17466083Scopus ID: 2-s2.0-34250164598OAI: oai:DiVA.org:hj-39679DiVA, id: diva2:1212097
Available from: 2018-06-01 Created: 2018-06-01 Last updated: 2018-06-01Bibliographically approved

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Bergman, Annika

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