BRCA1- or BRCA2-mutationscarriers
The cohort, which is part of an international collaboration with IBCCS and Cimba, is covering all (both men and women) who have undergone mutation testing for BRCA1 or 2 in the Southern health region since 1993. It is the largest registry of hereditary cancer in Sweden with 1200 cases. Most individuals have filled in a questionnaire concerning diet, body weight and body measurements, family history, BRCA1/2 status, reproduction and use of oral contraceptives. Blood samples are collected from all participants.
Purpose:
To study risk factors studies in hereditary breast cancer
The dataset includes all men and women, tested for mutations in BRCA1 or BRCA2, in the southern health region since 1993.
Go to data source
https://ccge.medschl.cam.ac.uk/consortia/cimba/
Citation and access
Citation and access
Data access level:
Creator/Principal investigator(s):
- Håkan Olsson – Lunds universitet - Medicinska fakulteten, Avdelningen för onkologi och patologi
Research principal:
Citation:
Method and outcome
Method and outcome
Unit of analysis:
Population:
The population includes all men and women, tested for mutation BRCA1 or 2 in the southern health region since 1993.
Time method:
Sampling procedure:
Time period(s) investigated:
Number of individuals/objects:
1200
Data format/data structure:
Data collection - Fysiska mätningar och tester
Data collection - Fysiska mätningar och tester
Mode of collection:
Fysiska mätningar och tester
Time period(s) for data collection:
1993 - Pågående
Source of the data:
- Befolkningsgrupp
- Biologiska prover
Data collection - Självadministrerat frågeformulär
Data collection - Självadministrerat frågeformulär
Mode of collection:
Självadministrerat frågeformulär
Time period(s) for data collection:
1993 - Pågående
Source of the data:
- Befolkningsgrupp
- Biologiska prover
Geographic coverage
Geographic coverage
Geographic description:
Södra sjukvårdsregionen
Administrative information
Administrative information
Responsible department/unit:
Faculty of Medicine
Topic and keywords
Topic and keywords
CESSDA topic classification:
Swedish Standard Classification of Research Subjects 2025:
Publications
Publications
Citation:
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008 Apr;82(4):937-48. doi: 10.1016/j.ajhg.2008.02.008.
Links:
Citation:
Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, et al. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer. 2009 Dec 15;101(12):2048-54. doi: 10.1038/sj.bjc.6605416.
