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)

Chenevix-Trench, Georgia, Milne, Roger L., Antoniou, Antonis C., Couch, Fergus J., Easton, Douglas F. and Goldgar, David E. (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). Breast Cancer Research, 9 2: 1-4. doi:10.1186/bcr1670


Author Chenevix-Trench, Georgia
Milne, Roger L.
Antoniou, Antonis C.
Couch, Fergus J.
Easton, Douglas F.
Goldgar, David E.
Title 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)
Formatted title
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)
Journal name Breast Cancer Research   Check publisher's open access policy
ISSN 1465-5411
1465-542X
Publication date 2007
Sub-type Article (original research)
DOI 10.1186/bcr1670
Open Access Status DOI
Volume 9
Issue 2
Start page 1
End page 4
Total pages 4
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
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 mutation 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Article # 104. Published under Commentary.

Document type: Journal Article
Sub-type: Article (original research)
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