CoF-AT - French Cohort Study on Ataxia Telangiectasia
Head :
Andrieu Nadine, U900
Stoppa-Lyonnet , U900
Stoppa-Lyonnet , U900
Last update : 07/08/2015 | Version : 2 | ID : 60031
| General | |
| Identification | |
| Detailed name | French Cohort Study on Ataxia Telangiectasia |
| Sign or acronym | CoF-AT |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | Avis CCPRB n°1989 du 26/07/2002, avis CNIL n°902310 du 30/12/2002, Avis CCTIS n°02.256 du 04/09/2002 |
| General Aspects | |
| Medical area |
Cancer research |
| Health determinants |
Genetic |
| Keywords | Health episodes, cancer, environment |
| Scientific investigator(s) (Contact) | |
| Name of the director | Andrieu |
| Surname | Nadine |
| Phone | +33 (0)1 72 38 93 83 |
| nadine.andrieu@curie.net | |
| Unit | U900 |
| Organization | INSERM |
| Name of the director | Stoppa-Lyonnet |
| Unit | U900 |
| Organization | INSERM |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Funding | |
| Funding status |
Mixed |
| Details | Ministère de la Recherche, Inserm, Conseil Scientifique de Radioprotection de EDF, MGEN, Fondation de France, Ligue Nationale contre le Cancer, Aviesan/ITMO, CEST de l'Institut Curie |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Institut National de la Santé et de la Recherche Médicale |
| Organisation status |
Public |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| Study databases (details) |
Cohort study |
| Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
| Database recruitment is carried out as part of an interventional study |
No |
| Additional information regarding sample selection. | Prospective Other bodies active in creating this cohort: Institut Curie, INSERM Inclusion cut-off date: 01/01/2014 |
| Database objective | |
| Main objective | The objectives of the cohort involving women related to a child suffering from ataxia telangiectasia (AT) are multi-layered: 1. To monitor female relatives for early detection of breast cancer (BC). 2. To estimate the risk of cancer associated with AT genes with a focus on BC risk. To investigate the role of potential modifying factors for this risk such as radiation, hormonal factors etc. 3. To investigate the natural history of BC in AT heterozygous women |
| Inclusion criteria | Breast cancer free women, of legal age and related to a child with ataxia telangiectasia-: mothers, sisters, aunts, grandmothers, maternal and paternal cousins. Recruited from families who participated in the first previous retrospective study by the team and new families contacted through treating physicians (paediatricians, neuro-paediatricians ...), geneticists, the AT research association (APRAT), Orphanet (information server on rare diseases and orphan drugs) and CEREDIH (reference centre for hereditary immunodeficiencies). |
| Population type | |
| Age |
Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) |
| Population covered |
General population |
| Gender |
Woman |
| Geography area |
International |
| Detail of the geography area | International multicentric cohort (31 centres): Belgium, Luxembourg, France |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 01/2003 |
| Date of last collection (YYYY or MM/YYYY) | 2024 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 391 (2013) |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Declarative data (detail) |
Paper self-questionnaire |
| Paraclinical data (detail) | Imaging |
| Biological data (detail) | Type of samples taken: blood, tumour tissues |
| Presence of a biobank |
Yes |
| Contents of biobank |
Plasma Tissues Cell lines DNA DNAc/RNAm |
| Details of biobank content | Plasma bank, DNA bank, RNA of lymphoblasts, DMSO frozen cells, cell lines, tumour tissue sample (breast cancer) |
| Health parameters studied |
Health event/morbidity Health event/mortality |
| Procedures | |
| Data collection method | Self-administered questionnaire: from paper questionnaire Interview: from paper questionnaire |
| Participant monitoring |
Yes |
| Details on monitoring of participants | Follow-up duration: 10 years |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://www.hal.inserm.fr/COFAT/ |
| Description | List of publications in HAL |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Data may be used by academic teams Data may not be used by industrial teams |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
