InheriteD brEast caNcer iTalian regIsTrY A Retrospective-prospective Observational Cohort Study to Evaluate Cancer Prevention Strategies in Women With a Deleterious Mutation in BRCA1-2

NCT05835739 | Recruiting

• 1 other identifier: CRO-2019-33
• Study Type: observational
• Target: 78
• Locations: 1 country
• Sites: 12

Brief Summary

The purpose of the study is to obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy

Conditions

Breast Cancer

Outcome Measures

Primary Outcomes (1)

• To obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy

  To obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy

  10 years since enrolment

Secondary Outcomes (3)

• To evaluate the clinico-radiological follow-up (type and frequency) of women with a germline deleterious mutation in BRCA1-2 with or without a history of early breast cancer

  10 years since enrolment

• To evaluate the treatment of early and/or advanced breast cancer in women with a germline deleterious mutation in BRCA1-2

  10 years since enrolment

• To evaluate disease-free survival and/or progression-free survival and overall survival of women with a germline deleterious mutation in BRCA1-2 treated for early and/or advanced breast cancer

  10 years since enrolment

Study Arms (2)

Cohort A (Retrospective)

all consecutive women with a germline deleterious mutation in BRCA1-2 admitted to the participant Center since 1st of January 2010 until site activation will be enrolled

Cohort B (Prospective):

all consecutive women with a germline deleterious mutation in BRCA1-2 admitted to the participant Center since site activation until September 2025 will be enrolled

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Stage IV breast cancer diagnosed after BRCA1-2 mutation detection

You may qualify if:

• Cohort A (Retrospective):
• Female sex
• Age ≥ 18 years
• Signed informed consent
• Documented germline deleterious mutation in BRCA1 and/or BRCA2 in people with: i) No history of cancer ii) Radically treated breast cancer iii) Stage IV breast cancer diagnosed after BRCA1-2 mutation detection
• Admission to the participating Center since 1st of January 2010, prior to site activation
• Cohort B (Prospective):
• Female sex
• Age ≥ 18 years
• Signed informed consent
• Documented germline deleterious mutation in BRCA1 and/or BRCA2 in people with: i) No history of cancer ii) Radically treated breast cancer iii) Stage IV breast cancer diagnosed after BRCA1-2 mutation detection
• Admission to the participating Center after site activation

You may not qualify if:

• Cohort A/B (Retrospective/Prospective):
• \. Other malignancies diagnosed within five years prior to BRCA1-2 mutation detection, except for:
• ovarian cancer stage I-II
• basal or squamous cell carcinoma of the skin
• melanoma in situ
• CIS of the cervix

Sponsors & Collaborators

• Centro di Riferimento Oncologico - Aviano: lead

Study Sites (12)

Centro di Riferimento Oncologico - Aviano

Aviano, Pordenone, 33081, Italy

RECRUITING

IRCCS AOU San Martino, IST Genova

Genova, Italy

RECRUITING

Azienda Ospedaliera Papardo

Messina, Italy

RECRUITING

ASST Ovest Milanese

Milan, Italy

RECRUITING

Azienda ospedaliera Universitaria di Modena

Modena, Italy

RECRUITING

Università degli studi di Napoli Federico II

Napoli, Italy

RECRUITING

Azienda AUSL IRCCS - Reggio Emilia

Reggio Emilia, Italy

RECRUITING

ASL Roma 1, Santo Spirito

Roma, Italy

RECRUITING

IFO - Istituto Regina Elena (Oncologia medica 2)

Roma, Italy

RECRUITING

Policlinico Universitario Gemelli

Roma, Italy

RECRUITING

Città della salute Torino, PO S. Anna

Torino, Italy

RECRUITING

ASU FC Azienda Sanitaria Universitaria Friuli Centrale

Udine, Italy

RECRUITING

Related Publications (6)

• Paul A, Paul S. The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers. Front Biosci (Landmark Ed). 2014 Jan 1;19(4):605-18. doi: 10.2741/4230.

  PMID: 24389207 RESULT

• King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759.

  PMID: 14576434 RESULT

• Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium; McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.

  PMID: 28632866 RESULT

• Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium; Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramon y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomaki K, van der Hout AH, Hogervorst FB, Verhoef S, Collee JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gomez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Zlowocka-Perlowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985.

  PMID: 25849179 RESULT

• Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018 Apr 5;4(4):CD002748. doi: 10.1002/14651858.CD002748.pub4.

  PMID: 29620792 RESULT

• Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, Tilanus-Linthorst MM, Koppert LB, Obdeijn IM, van Deurzen CH, Collee JM, Seynaeve C, Hooning MJ. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis. Ann Oncol. 2013 Aug;24(8):2029-35. doi: 10.1093/annonc/mdt134. Epub 2013 Apr 10.

  PMID: 23576707 RESULT

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 24, 2023
• First Posted: April 28, 2023
• Study Start: August 27, 2019
• Primary Completion: September 30, 2025
• Study Completion (Estimated): September 30, 2035
• Last Updated: April 28, 2023

Record last verified: 2023-04

Locations

IT (12)