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BRCA1/2- mutationcarriers

SND-ID: EXT 0104

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.

Purpose:

To study risk factors studies in hereditary breast cancer
Research principal, contributors, and funding

Research principal

Lund University

Responsible department/unit

Faculty of Medicine

Protection and ethical review
Method and time period

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

Time period(s) investigated

1993 – ongoing

Geographic coverage
Topic and keywords

Research area

HEALTH (CESSDA Topic Classification)
Medical Genetics, Cancer and Oncology (The Swedish standard of fields of research 2011)

Keywords

contraceptive devices, body weights and measures, neoplasms, medical history taking, breast neoplasms, reproduction, heredity, scania, epihealth_skåne, brca1, blood sample, genetic studies, epihealth, brca2

Publications

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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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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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Dataset
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

Creator/Principal investigator(s)

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

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

Number of individuals/objects

1200

Homepage

Contact for questions about the data

Is part of collection at SND

Scania Metadatabase for Epidemiology (SME)

Published: 2014-05-19
Last updated: 2017-01-03