Breast CancersGENEPSONCT03667417
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
An observational study of Breast Cancers and Ovarian Cancers, run by Institut Paoli-Calmettes at 1 site in France.
Trial summary
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Breast Cancers, Ovarian Cancers
- What is being tested?
- Questionnaires
- How many people
- 5,000 participants
- Where
- 1 siteFrance
- Study dates
- 15 Oct 1999to 15 Oct 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: women and men with a BRCA1 or BRCA2 mutation
Who may be able to join
None listed.
Who cannot join
- A person of legal age subject to a legal protection measure, or unable to express consent.
- Impossibility to submit to the follow-up of the test for geographical, social or psychological reasons
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Institut Paoli-Calmettes
Marseille, 13009
Catherine NOGUES, MD, 334 91 223395, NOGUESC@ipc.unicancer.fr
Catherine NOGUES, MD
About this study
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
Read the detailed description
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
- Conditions
- Breast Cancers, Ovarian Cancers
- Being tested
- Questionnaires
- Keywords
- BRCA gene mutation
- Medical subject headings
- Breast Neoplasms, Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnairesOther
standardized data collection and 10-year prospective follow-up
| Study group | Role | What they receive |
|---|---|---|
| subjects carrying a BRCA gene mutation | subjects carrying a BRCA gene mutation Receives: Other: Questionnaires |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of breast and / or ovarian cancer during subject lifetime
risk that a subject with a mutation develops breast and / or ovarian cancer during his lifetime, assessed by epidemiologic questionnaires (carcinologic events).
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2018
- Study start15 Oct 1999
- Primary completion15 Oct 2028 (estimated)
- Study completion15 Oct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (69)Papers the sponsor has linked to this study.
- Other trials for Breast CancersStudies of the same condition, open and under way.
- More trials run by Institut Paoli-CalmettesThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Paoli-Calmettes
- Sponsor type
- University, hospital or other
- Collaborators
- UNICANCER
- Responsible party
- Sponsor
- Investigators
- Catherine NOGUES, MD, Principal investigator, Institut Paoli-Calmettes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03667417
- Sponsor's protocol ID
- GENEPSO-IPC 2018-031
- Acronym
- GENEPSO
- Status last verified
- Oct 2026
- First submitted
- 10 Sep 2018
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet. 1997 May 24;349(9064):1505-10.
PubMed 9167459Brzovic PS, Meza J, King MC, Klevit RE. The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. J Biol Chem. 1998 Apr 3;273(14):7795-9. doi: 10.1074/jbc.273.14.7795.
PubMed 9525870Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991 Feb;48(2):232-42.
PubMed 1990835Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum Mutat. 1996;8(1):8-18. doi: 10.1002/humu.1380080102.
PubMed 8807330Den Otter W, Merchant TE, Beijerinck D, Koten JW. Breast cancer induction due to mammographic screening in hereditarily affected women. Anticancer Res. 1996 Sep-Oct;16(5B):3173-5.
PubMed 8967731Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 Jan;56(1):265-71.
PubMed 7825587Easton D. Breast cancer genes--what are the real risks? Nat Genet. 1997 Jul;16(3):210-1. doi: 10.1038/ng0797-210. No abstract available.
PubMed 9207777Eisinger F, Thouvenin D, Bignon YJ, Cuisenier J, Feingold J, Hoerni B, Lasset C, Lyonnet D, Maraninchi D, Marty M, et al. [Considerations on the organization of oncologic-genetic consultations (a first step towards the publication of clinical practice guidelines)]. Bull Cancer. 1995 Oct;82(10):865-78. No abstract available. French.
PubMed 8535012Eisinger F, Stoppa-Lyonnet D, Longy M, Kerangueven F, Noguchi T, Bailly C, Vincent-Salomon A, Jacquemier J, Birnbaum D, Sobol H. Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer. Cancer Res. 1996 Feb 1;56(3):471-4.
PubMed 8564955Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Longy M, Guinebretiere JM, Sauvan R, Noguchi T, Birnbaum D, Sobol H. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res. 1998 Apr 15;58(8):1588-92.
PubMed 9563465Eisinger F, Alby N, Bremond A, Dauplat J, Espie M, Janiaud P, Kuttenn F, Lebrun JP, Lefranc JP, Pierret J, Sobol H, Stoppa-Lyonnet D, Thouvenin D, Tristant H, Feingold J. Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol. 1998 Sep;9(9):939-50. doi: 10.1023/A:1008389021382.
PubMed 9818066Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692-5. doi: 10.1016/s0140-6736(94)91578-4.
PubMed 7907678Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. doi: 10.1086/301749.
PubMed 9497246Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BA. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 1995 Dec;11(4):428-33. doi: 10.1038/ng1295-428.
PubMed 7493024Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, Stratton MR, Easton D. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997 Jan;15(1):103-5. doi: 10.1038/ng0197-103.
PubMed 8988179
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
- ClinicalTrials.gov ID
- NCT03667417
- Acronym / sponsor ID
- GENEPSO / GENEPSO-IPC 2018-031
- Conditions
- Breast Cancers, Ovarian Cancers
- Keywords
- BRCA gene mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Institut Paoli-CalmettesUniversity, hospital or other
- Collaborators
- UNICANCER
- Study start
- 15 Oct 1999 (actual)
- Primary completion
- 15 Oct 2028 (estimated)
- Study completion
- 15 Oct 2028 (estimated)
- First posted
- 12 Sep 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
Detailed description
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| subjects carrying a BRCA gene mutation | – | Other: Questionnairessubjects carrying a BRCA gene mutation |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- women and men with a BRCA1 or BRCA2 mutation
Key inclusion criteria (0 listed)
Key exclusion criteria (2 listed)
- A person of legal age subject to a legal protection measure, or unable to express consent.
- Impossibility to submit to the follow-up of the test for geographical, social or psychological reasons
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Questionnairesstandardized data collection and 10-year prospective follow-up | Other | subjects carrying a BRCA gene mutation |
Primary outcome
Incidence of breast and / or ovarian cancer during subject lifetime
Time frame: 10 years
risk that a subject with a mutation develops breast and / or ovarian cancer during his lifetime, assessed by epidemiologic questionnaires (carcinologic events).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Oct 2026.
- Background: PubMed 9167459Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet. 1997 May 24;349(9064):1505-10.
- Background: PubMed 9525870Brzovic PS, Meza J, King MC, Klevit RE. The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. J Biol Chem. 1998 Apr 3;273(14):7795-9. doi: 10.1074/jbc.273.14.7795.
- Background: PubMed 1990835Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991 Feb;48(2):232-42.
- Background: PubMed 8807330Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum Mutat. 1996;8(1):8-18. doi: 10.1002/humu.1380080102.
- Background: PubMed 8967731Den Otter W, Merchant TE, Beijerinck D, Koten JW. Breast cancer induction due to mammographic screening in hereditarily affected women. Anticancer Res. 1996 Sep-Oct;16(5B):3173-5.
- Background: PubMed 7825587Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 Jan;56(1):265-71.
- Background: PubMed 9207777Easton D. Breast cancer genes--what are the real risks? Nat Genet. 1997 Jul;16(3):210-1. doi: 10.1038/ng0797-210. No abstract available.
- Background: PubMed 8535012Eisinger F, Thouvenin D, Bignon YJ, Cuisenier J, Feingold J, Hoerni B, Lasset C, Lyonnet D, Maraninchi D, Marty M, et al. [Considerations on the organization of oncologic-genetic consultations (a first step towards the publication of clinical practice guidelines)]. Bull Cancer. 1995 Oct;82(10):865-78. No abstract available. French.
- Background: PubMed 8564955Eisinger F, Stoppa-Lyonnet D, Longy M, Kerangueven F, Noguchi T, Bailly C, Vincent-Salomon A, Jacquemier J, Birnbaum D, Sobol H. Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer. Cancer Res. 1996 Feb 1;56(3):471-4.
- Background: PubMed 9563465Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Longy M, Guinebretiere JM, Sauvan R, Noguchi T, Birnbaum D, Sobol H. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res. 1998 Apr 15;58(8):1588-92.
- Background: PubMed 9818066Eisinger F, Alby N, Bremond A, Dauplat J, Espie M, Janiaud P, Kuttenn F, Lebrun JP, Lefranc JP, Pierret J, Sobol H, Stoppa-Lyonnet D, Thouvenin D, Tristant H, Feingold J. Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol. 1998 Sep;9(9):939-50. doi: 10.1023/A:1008389021382.
- Background: PubMed 7907678Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692-5. doi: 10.1016/s0140-6736(94)91578-4.
- Description de la cohorte GENEPSO au sein du Portail Epidémiologie-FranceLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Catherine NOGUES, MD principal investigator
Institut Paoli-Calmettes
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Cancers and Ovarian Cancers, run by Institut Paoli-Calmettes at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 14 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dominique GENRE, MD (33 491 22 37 78, DRCI.UP@ipc.unicancer.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of breast and / or ovarian cancer during subject lifetime (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03667417, which also lists 69 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Oct 2026.