GENEPSO: Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Study Details
Study Description
Brief Summary
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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subjects carrying a BRCA gene mutation subjects carrying a BRCA gene mutation |
Other: Questionnaires
standardized data collection and 10-year prospective follow-up
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Outcome Measures
Primary Outcome Measures
- Incidence of breast and / or ovarian cancer during subject lifetime [10 years]
risk that a subject with a mutation develops breast and / or ovarian cancer during his lifetime, assessed by epidemiologic questionnaires (carcinologic events).
Eligibility Criteria
Criteria
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Woman or man, with or without cancer, carrying a deleterious BRCA1/BRCA2 mutation, aged 18 years and over.
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Woman with or without breast cancer or ovarian cancer at baseline.
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Man with or without breast cancer at baseline.
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Signed consent to participation
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Affiliation to a social security regimen, or beneficiary of such a regimen.
Exclusion Criteria:
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A person of legal age subject to a legal protection measure, or unable to express consent.
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Impossibility to submit to the follow-up of the test for geographical, social or psychological reasons
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Institut Paoli-Calmettes | Marseille | France | 13009 |
Sponsors and Collaborators
- Institut Paoli-Calmettes
- UNICANCER - Le Groupe génétique et cancer (GGC)
Investigators
- Principal Investigator: Catherine NOGUES, MD, Institut Paoli-Calmettes
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
- Brzovic 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.
- Claus 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.
- Couch 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.
- De VATHAIRE F, KOSCIELNY S, REZVANI A, LAPLANCHE A, ESTEVE J, FERLAY J (1996) Estimation de l'incidence des cancers en France 1983-1987. Editions INSERM, Paris.
- Den 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.
- Easton D. Breast cancer genes--what are the real risks? Nat Genet. 1997 Jul;16(3):210-1.
- Easton 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.
- Eisinger F, Alby N, Bremond A, Dauplat J, Espié 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.
- Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Longy M, Guinebretière 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.
- Eisinger 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.
- Eisinger 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. French.
- Ford 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.
- Ford 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.
- Gayther 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.
- Gayther 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.
- Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990 Dec 21;250(4988):1684-9.
- Houlston RS, Collins A, Slack J, Campbell S, Collins WP, Whitehead MI, Morton NE. Genetic epidemiology of ovarian cancer: segregation analysis. Ann Hum Genet. 1991 Oct;55(4):291-9.
- Julian-Reynier C, Eisinger F, Vennin P, Chabal F, Aurran Y, Noguès C, Bignon YJ, Machelard-Roumagnac M, Maugard-Louboutin C, Serin D, Blanc B, Orsoni P, Sobol H. Attitudes towards cancer predictive testing and transmission of information to the family. J Med Genet. 1996 Sep;33(9):731-6.
- Kerangueven F, Essioux L, Dib A, Noguchi T, Allione F, Geneix J, Longy M, Lidereau R, Eisinger F, Pébusque MJ, et al. Loss of heterozygosity and linkage analysis in breast carcinoma: indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene. 1995 Mar 2;10(5):1023-6.
- Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, Gold K, Trock B, Main D, Lynch J, Fulmore C, Snyder C, Lemon SJ, Conway T, Tonin P, Lenoir G, Lynch H. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996 Jun 26;275(24):1885-92.
- Marcus JN, Watson P, Page DL, Narod SA, Lenoir GM, Tonin P, Linder-Stephenson L, Salerno G, Conway TA, Lynch HT. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer. 1996 Feb 15;77(4):697-709.
- Ménégoz F, Black RJ, Arveux P, Magne V, Ferlay J, Buémi A, Carli PM, Chapelain G, Faivre J, Gignoux M, Grosclaude P, Mace-Lesec'h J, Raverdy N, Schaffer P. Cancer incidence and mortality in France in 1975-95. Eur J Cancer Prev. 1997 Oct;6(5):442-66.
- Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994 Oct 7;266(5182):66-71.
- Narod SA, Goldgar D, Cannon-Albright L, Weber B, Moslehi R, Ives E, Lenoir G, Lynch H. Risk modifiers in carriers of BRCA1 mutations. Int J Cancer. 1995 Dec 20;64(6):394-8.
- Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet. 1996 Feb;58(2):271-80.
- NOGUES C et le groupe Génétique et Cancer de la FNCLCC (1996) Tests moléculaires dans le cancer du sein : attitude du Groupe Génétique et Cancer (GGC). Eurocancer 96, John Libbey Eurotext, Paris, pp. 177-178.
- 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.
- Seitz S, Rohde K, Bender E, Nothnagel A, Kölble K, Schlag PM, Scherneck S. Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene. 1997 Feb 13;14(6):741-3.
- Sobol H, Stoppa-Lyonnet D, Bressac-de-Paillerets B, Peyrat JP, Kerangueven F, Janin N, Noguchi T, Eisinger F, Guinebretiere JM, Jacquemier J, Birnbaum D. Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers. Cancer Res. 1996 Jul 15;56(14):3216-9.
- Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G. BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. Am J Hum Genet. 1997 May;60(5):1021-30.
- STOPPA-LYONNET D, NOGUES C, SOBOL H, EISINGER F (1998) Consultations de génétique et prédisposition au cancer du sein. In : Risques héréditaires de cancers du sein et de l'ovaire. Quelle prise en charge ? Expertise collective INSERM, Editions INSERM, Paris, pp. 179-189.
- Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 May 15;336(20):1401-8.
- Verhoog LC, Brekelmans CT, Seynaeve C, van den Bosch LM, Dahmen G, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Wagner A, van den Ouweland A, Devilee P, Meijers-Heijboer EJ, Klijn JG. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet. 1998 Jan 31;351(9099):316-21.
- Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995 Dec 21-28;378(6559):789-92. Erratum in: Nature 1996 Feb 22;379(6567):749.
- Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994 Sep 30;265(5181):2088-90.
- GENEPSO-IPC 2018-031