BRCA1/2- mutationcarriers

This study is part of the collection Scania Metadatabase for Epidemiology (SME)

Creator/Principal investigator(s):

Håkan Olsson - Lund University, Faculty of Medicine, The Division of Oncology and Pathology

Description:

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.

Responsible department/unit:

Creator/Principal investigator(s):

Håkan Olsson - Lund University, Faculty of Medicine, The Division of Oncology and Pathology

Identifiers:

SND-ID: EXT 0104

Purpose:

To study risk factors studies in hereditary breast cancer

Description:

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.

Time period(s) investigated:

1993 — ongoing

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:

Probability: Systematic random

Contact person for questions about the data:

Håkan Olsson

Is part of collection at SND:

Scania Metadatabase for Epidemiology (SME)

Publications

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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.
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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.
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If you have published anything based on these data, please notify us with a reference to your publication(s).

BRCA1- or BRCA2-mutationscarriers

Description:

The dataset includes all men and women, tested for mutations in BRCA1 or BRCA2, in the southern health region since 1993.

Data format / data structure:

Numeric

Data collection:

Mode of collection: Self-administered questionnaire

Time period(s) for data collection: 1993

Source of the data: Population group, Biological samples

Mode of collection: Physical measurements and tests

Time period(s) for data collection: 1993

Source of the data: Population group, Biological samples

Number of individuals/objects:

1200