[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100570651":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":15,"centralContacts":19,"locations":25,"responsibleParty":39,"collaborators":10,"id":42,"slug":43,"hasResults":44,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":44,"sex":50,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":56,"studyType":57,"phases":10,"briefSummary":58,"conditions":59,"keywords":10,"overallStatus":65,"whyStopped":10,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":75},{"fullName":5,"class":6},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"BRCA1 and BRCA2 carriers",null,"Inclusion criteria:\n\n* age \\> 18 years\n* presence of a pathogenic variant in the BRCA genes\n* signed informed consent for study participation",{"label":13,"type":10,"description":14,"interventionNames":10},"Control cohort","* \\>18 y.o\n* Relatives up to the third degree of kinship from cohort 1 who tested negative on predictive testing for the familial pathogenic variant in the BRCA genes, matched for age where possible.",[16],{"name":17,"affiliation":5,"role":18},"Emanuela Lucci Cordisco","PRINCIPAL_INVESTIGATOR",[20],{"name":21,"role":22,"phone":23,"phoneExt":10,"email":24},"Emanuela Lucci Cordisco, MD","CONTACT","+39 0630156780","emanuela.luccicordisco@policlinicogemelli.it",[26],{"facility":27,"status":10,"city":28,"state":29,"zip":30,"country":31,"countryCode":32,"cosmosGeoPoint":33,"geoPoint":38,"contacts":10},"UOC Genetica Medica Fondazione Policlinico Universitario A.Gemelli IRCCS","Roma","RM","00136","Italy","IT",{"type":34,"coordinates":35},"Point",[36,37],11.10642,44.99364,{"lat":37,"lon":36},{"type":18,"investigatorFullName":40,"investigatorTitle":41,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Lucci Cordisco Emanuela","MD","100570651","study-on-fertility-parameters-in-women-with-germline-variants-in-brca1-and-brca2-100570651",false,"NCT06710015","Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2","B.Fert: Retrospective and Prospective Observational Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2","BFert","BRCA1 and BRCA2 carriers\n\nInclusion Criteria:\n\n* age \\> 18 years\n* presence of a pathogenic variant in the BRCA genes\n* signed informed consent Exclusion Criteria\n* presence of a pathogenic variant in another gene (not BRCA)\n* significant psychiatric or clinical impairment affecting the ability to consent to the study\n\nControl cohort\n\nInclusion Criteria:\n\n\\- Relatives up to the third degree of the first cohort who tested negative on predictive testing for the familial pathogenic variant in the BRCA genes, matched for age where possible.\n\nExclusion Criteria:\n\n* absence of a pathogenic variant in another gene (non-BRCA) found in a family member\n* significant psychiatric or clinical impairment affecting the ability to consent to the study","FEMALE","18 Years","100 Years",{"count":54,"type":55},128,"ESTIMATED","1 Day","OBSERVATIONAL","Pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are associated with an increased risk of developing breast and ovarian cancers. According to current guidelines from the National Comprehensive Cancer Network, the risk of developing breast cancer exceeds 60% for both genes, while the risk for ovarian cancer ranges from 39% to 58% for the BRCA1 and from 13% to 29% for the BRCA2. The detection of a pathogenic variant in the BRCA1 or BRCA2 genes necessitates both the establishment of appropriate primary and secondary surveillance measures for carriers and the discussion of the familial implications of such findings.\n\nThe molecular basis initially suggesting a possible association between germline variants in BRCA1 and BRCA2 genes and diminished ovarian reserve lies in the cellular impact of impaired or defective repair of DNA double-strand breaks (DSBs) on oocytes. Notably, BRCA1 and BRCA2 genes play a key role in the ATM-related mechanism for DSB repair through the homologous recombination (HR) pathway.\n\nAlthough preclinical evidence supports a potential correlation between defective DSB repair and normal follicle maturation processes, clinical studies on large cohorts of patients with pathogenic BRCA1 and BRCA2 variants yield inconsistent results. This discrepancy is likely attributable to the inherent challenges in recruiting a sufficiently homogeneous and statistically significant sample size.\n\nThe aim of the study is to evaluate reproductive capacity in women carrying pathogenic variants in the BRCA1\u002F2 genes by assessing the number of pregnancies during the period from January 1, 2018, to December 31, 2023. Secondary objectives include evaluating menopausal characteristics and pregnancy outcomes.",[60,61,62,63,64],"BRCA1 and\u002For BRCA2 Variant Carriers","Fertility","Reproductive Age","Menopause","Pregnancy Outcomes","NOT_YET_RECRUITING","2024-11-26",{"date":68,"type":69},"2024-11-29","ACTUAL",{"date":71,"type":55},"2024-12-01",{"date":73,"type":55},"2026-06-01",{"name":5,"class":6},1]