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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
KB. Kuchenbaecker, JL. Hopper, DR. Barnes, KA. Phillips, TM. Mooij, MJ. Roos-Blom, S. Jervis, FE. van Leeuwen, RL. Milne, N. Andrieu, DE. Goldgar, MB. Terry, MA. Rookus, DF. Easton, AC. Antoniou, . BRCA1 and BRCA2 Cohort Consortium, L. McGuffog,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
Open Access Digital Library
od 1998-01-01 do Před 6 měsíci
Medline Complete (EBSCOhost)
od 1998-01-07 do Před 1 měsícem
PubMed
28632866
DOI
10.1001/jama.2017.7112
Knihovny.cz E-zdroje
- MeSH
- časové faktory MeSH
- dospělí MeSH
- geny BRCA1 * MeSH
- geny BRCA2 * MeSH
- hodnocení rizik MeSH
- incidence MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace * MeSH
- nádory prsu epidemiologie genetika MeSH
- nádory vaječníků epidemiologie genetika MeSH
- prospektivní studie MeSH
- rodina MeSH
- sekundární malignity epidemiologie genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- věkové faktory MeSH
- věkové rozložení MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. Design, Setting, and Participants: Prospective cohort study of 6036 BRCA1 and 3820 BRCA2 female carriers (5046 unaffected and 4810 with breast or ovarian cancer or both at baseline) recruited in 1997-2011 through the International BRCA1/2 Carrier Cohort Study, the Breast Cancer Family Registry and the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through family clinics (94%) and population-based studies (6%). The majority were from large national studies in the United Kingdom (EMBRACE), the Netherlands (HEBON), and France (GENEPSO). Follow-up ended December 2013; median follow-up was 5 years. Exposures: BRCA1/2 mutations, family cancer history, and mutation location. Main Outcomes and Measures: Annual incidences, standardized incidence ratios, and cumulative risks of breast, ovarian, and contralateral breast cancer. Results: Among 3886 women (median age, 38 years; interquartile range [IQR], 30-46 years) eligible for the breast cancer analysis, 5066 women (median age, 38 years; IQR, 31-47 years) eligible for the ovarian cancer analysis, and 2213 women (median age, 47 years; IQR, 40-55 years) eligible for the contralateral breast cancer analysis, 426 were diagnosed with breast cancer, 109 with ovarian cancer, and 245 with contralateral breast cancer during follow-up. The cumulative breast cancer risk to age 80 years was 72% (95% CI, 65%-79%) for BRCA1 and 69% (95% CI, 61%-77%) for BRCA2 carriers. Breast cancer incidences increased rapidly in early adulthood until ages 30 to 40 years for BRCA1 and until ages 40 to 50 years for BRCA2 carriers, then remained at a similar, constant incidence (20-30 per 1000 person-years) until age 80 years. The cumulative ovarian cancer risk to age 80 years was 44% (95% CI, 36%-53%) for BRCA1 and 17% (95% CI, 11%-25%) for BRCA2 carriers. For contralateral breast cancer, the cumulative risk 20 years after breast cancer diagnosis was 40% (95% CI, 35%-45%) for BRCA1 and 26% (95% CI, 20%-33%) for BRCA2 carriers (hazard ratio [HR] for comparing BRCA2 vs BRCA1, 0.62; 95% CI, 0.47-0.82; P=.001 for difference). Breast cancer risk increased with increasing number of first- and second-degree relatives diagnosed as having breast cancer for both BRCA1 (HR for ≥2 vs 0 affected relatives, 1.99; 95% CI, 1.41-2.82; P<.001 for trend) and BRCA2 carriers (HR, 1.91; 95% CI, 1.08-3.37; P=.02 for trend). Breast cancer risk was higher if mutations were located outside vs within the regions bounded by positions c.2282-c.4071 in BRCA1 (HR, 1.46; 95% CI, 1.11-1.93; P=.007) and c.2831-c.6401 in BRCA2 (HR, 1.93; 95% CI, 1.36-2.74; P<.001). Conclusions and Relevance: These findings provide estimates of cancer risk based on BRCA1 and BRCA2 mutation carrier status using prospective data collection and demonstrate the potential importance of family history and mutation location in risk assessment.
Centre François Baclesse Caen France
Clinical Genetics Guy's and St Thomas' NHS Foundation Trust London England
Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic
Department of Clinical Genetics Copenhagen University Hospital Rigshospital Copenhagen Denmark
Department of Clinical Genetics Fox Chase Cancer Center Philadelphia Pennsylvania
Department of Clinical Genetics South Glasgow University Hospitals Glasgow Scotland
Department of Clinical Genetics St George's University of London London England
Department of Clinical Genetics VU University Medical Center Amsterdam the Netherlands
Department of Dermatology University of Utah School of Medicine Salt Lake City Utah
Department of Epidemiology Cancer Prevention Institute of California Fremont
Department of Epidemiology Columbia University New York New York
Department of Epidemiology Netherlands Cancer Institute Amsterdam the Netherlands
Department of Genetics and Pathology Pomeranian Medical University Szczecin Poland
Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands
Department of Medicine Huntsman Cancer Institute Salt Lake City Utah
Department of Molecular Genetics National Institute of Oncology Budapest Hungary
Department of Oncology and Pathology Karolinska Institute Stockholm Sweden
Department of Oncology Lund University Hospital Lund Sweden
Departments of Pedicatrics and Medicine Columbia University New York New York
Family Cancer Clinic Netherlands Cancer Institute Amsterdam the Netherlands
Genetic Epidemiology Laboratory Department of Pathology University of Melbourne Parkville Australia
Oncogenetics Team Institute of Cancer Research and Royal Marsden NHS Foundation Trust Sutton England
Oncogénétique Clinique Hôpital René Huguenin Institut Curie Saint Cloud France
Unité d'Oncogénétique Centre Paul Strauss Strasbourg France
Unité de Prévention et d'Epidémiologie Génétique Centre Léon Bérard Lyon France
Yorkshire Regional Genetics Service Chapel Allerton Hospital Leeds England
Citace poskytuje Crossref.org
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- $a Kuchenbaecker, Karoline B $u Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England2Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, England.
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- $a Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers / $c KB. Kuchenbaecker, JL. Hopper, DR. Barnes, KA. Phillips, TM. Mooij, MJ. Roos-Blom, S. Jervis, FE. van Leeuwen, RL. Milne, N. Andrieu, DE. Goldgar, MB. Terry, MA. Rookus, DF. Easton, AC. Antoniou, . BRCA1 and BRCA2 Cohort Consortium, L. McGuffog, DG. Evans, D. Barrowdale, D. Frost, J. Adlard, KR. Ong, L. Izatt, M. Tischkowitz, R. Eeles, R. Davidson, S. Hodgson, S. Ellis, C. Nogues, C. Lasset, D. Stoppa-Lyonnet, JP. Fricker, L. Faivre, P. Berthet, MJ. Hooning, LE. van der Kolk, CM. Kets, MA. Adank, EM. John, WK. Chung, IL. Andrulis, M. Southey, MB. Daly, SS. Buys, A. Osorio, C. Engel, K. Kast, RK. Schmutzler, T. Caldes, A. Jakubowska, J. Simard, ML. Friedlander, SA. McLachlan, E. Machackova, L. Foretova, YY. Tan, CF. Singer, E. Olah, AM. Gerdes, B. Arver, H. Olsson,
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- $a Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. Design, Setting, and Participants: Prospective cohort study of 6036 BRCA1 and 3820 BRCA2 female carriers (5046 unaffected and 4810 with breast or ovarian cancer or both at baseline) recruited in 1997-2011 through the International BRCA1/2 Carrier Cohort Study, the Breast Cancer Family Registry and the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through family clinics (94%) and population-based studies (6%). The majority were from large national studies in the United Kingdom (EMBRACE), the Netherlands (HEBON), and France (GENEPSO). Follow-up ended December 2013; median follow-up was 5 years. Exposures: BRCA1/2 mutations, family cancer history, and mutation location. Main Outcomes and Measures: Annual incidences, standardized incidence ratios, and cumulative risks of breast, ovarian, and contralateral breast cancer. Results: Among 3886 women (median age, 38 years; interquartile range [IQR], 30-46 years) eligible for the breast cancer analysis, 5066 women (median age, 38 years; IQR, 31-47 years) eligible for the ovarian cancer analysis, and 2213 women (median age, 47 years; IQR, 40-55 years) eligible for the contralateral breast cancer analysis, 426 were diagnosed with breast cancer, 109 with ovarian cancer, and 245 with contralateral breast cancer during follow-up. The cumulative breast cancer risk to age 80 years was 72% (95% CI, 65%-79%) for BRCA1 and 69% (95% CI, 61%-77%) for BRCA2 carriers. Breast cancer incidences increased rapidly in early adulthood until ages 30 to 40 years for BRCA1 and until ages 40 to 50 years for BRCA2 carriers, then remained at a similar, constant incidence (20-30 per 1000 person-years) until age 80 years. The cumulative ovarian cancer risk to age 80 years was 44% (95% CI, 36%-53%) for BRCA1 and 17% (95% CI, 11%-25%) for BRCA2 carriers. For contralateral breast cancer, the cumulative risk 20 years after breast cancer diagnosis was 40% (95% CI, 35%-45%) for BRCA1 and 26% (95% CI, 20%-33%) for BRCA2 carriers (hazard ratio [HR] for comparing BRCA2 vs BRCA1, 0.62; 95% CI, 0.47-0.82; P=.001 for difference). Breast cancer risk increased with increasing number of first- and second-degree relatives diagnosed as having breast cancer for both BRCA1 (HR for ≥2 vs 0 affected relatives, 1.99; 95% CI, 1.41-2.82; P<.001 for trend) and BRCA2 carriers (HR, 1.91; 95% CI, 1.08-3.37; P=.02 for trend). Breast cancer risk was higher if mutations were located outside vs within the regions bounded by positions c.2282-c.4071 in BRCA1 (HR, 1.46; 95% CI, 1.11-1.93; P=.007) and c.2831-c.6401 in BRCA2 (HR, 1.93; 95% CI, 1.36-2.74; P<.001). Conclusions and Relevance: These findings provide estimates of cancer risk based on BRCA1 and BRCA2 mutation carrier status using prospective data collection and demonstrate the potential importance of family history and mutation location in risk assessment.
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- $a Hopper, John L $u Centre for Epidemiology and Biostatistics, Melbourne School of Population Health, University of Melbourne, Melbourne, Australia.
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- $a Barnes, Daniel R $u Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England.
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- $a Phillips, Kelly-Anne $u Centre for Epidemiology and Biostatistics, Melbourne School of Population Health, University of Melbourne, Melbourne, Australia4Division of Cancer Medicine, Peter MacCallum Cancer Centre, Melbourne, Australia5Department of Medicine, St Vincent's Hospital, University of Melbourne, Parkville, Australia6Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Australia.
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- $a Jervis, Sarah $u Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England9Mathematics Institute, University of Warwick, Coventry, England.
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- $a Milne, Roger L $u Centre for Epidemiology and Biostatistics, Melbourne School of Population Health, University of Melbourne, Melbourne, Australia10Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Australia.
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- $a Andrieu, Nadine $u Inserm U900, Paris, France12Institut Curie, Paris, France13Mines ParisTech, Fontainebleau, France14PSL Research University, Paris, France. $7 gn_A_00006651
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- $a Goldgar, David E $u Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah.
- 700 1_
- $a Terry, Mary Beth $u Department of Epidemiology, Columbia University, New York, New York.
- 700 1_
- $a Rookus, Matti A $u Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
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- $a Antoniou, Antonis C $u Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England. $7 gn_A_00007463
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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