BRCA1- or BRCA2-mutationscarriers

SND-ID: ext0104-1.

Is part of collection at SND: Scania Metadatabase for Epidemiology (SME)

Access to data via

Homepage

IBCCS

CIMBA

Contact

Håkan Olsson

hakan.olsson@med.lu.se

Creator/Principal investigator(s)

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

Research principal

Lund University - Faculty of Medicine

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.

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.

Method and outcome

Unit of analysis

Individual

Population

The population includes all men and women, tested for mutation BRCA1 or 2 in the southern health region since 1993.

Time Method

Cross-section

Sampling procedure

Probability: Systematic random

Time period(s) investigated

1993 – Ongoing

Number of individuals/objects

1200

Data format / data structure

Numeric

Data collection

Data collection 1

Mode of collection: Physical measurements and tests
Time period(s) for data collection: 1993–ongoing
Source of the data: Population group, Biological samples

Data collection 2

Mode of collection: Self-administered questionnaire
Time period(s) for data collection: 1993–ongoing
Source of the data: Population group, Biological samples

Geographic coverage

Geographic spread

Geographic description: Södra sjukvårdsregionen

Administrative information

Responsible department/unit

Faculty of Medicine

Topic and keywords

Research area

Medical genetics (Standard för svensk indelning av forskningsämnen 2011)

Cancer and oncology (Standard för svensk indelning av forskningsämnen 2011)

Health (CESSDA Topic Classification)

Keywords

Contraceptive devices, Body weights and measures, Neoplasms, Medical history taking, Breast neoplasms, Reproduction, Heredity, Scania, Epihealth, Epihealth_skåne, Genetic studies, Blood sample, Brca1, Brca2

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). If you are responsible for the catalogue entry, you can update the metadata/data description in DORIS.