Breast Cancer Research and Treatment

, Volume 151, Issue 3, pp 653–660 | Cite as

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

  • Tehillah S. MenesEmail author
  • Mary Beth Terry
  • David Goldgar
  • Irene L. Andrulis
  • Julia A. Knight
  • Esther M. John
  • Yuyan Liao
  • Melissa Southey
  • Alexander Miron
  • Wendy Chung
  • Saundra S. Buys


BReast CAncer genes 1 and 2 (BRCA1 and BRCA2) mutation carriers diagnosed with breast cancer are at increased risk of developing a second primary breast cancer. Data from high-risk clinics may be subject to different biases which can cause both over and underestimation of this risk. Using data from a large multi-institutional family registry we estimated the 10-year cumulative risk of second primary breast cancer including more complete testing information on family members. We prospectively followed 800 women diagnosed with breast cancer from the Breast Cancer Family Registry (BCFR) who were carriers of a BRCA1 or BRCA2 pathogenic mutation or a variant of unknown clinical significance. In order to limit survival and ascertainment bias, cases were limited to those diagnosed with a first primary breast cancer from 1994 to 2001 and enrolled in the BCFR within 3 years after their cancer diagnosis. We excluded women enrolled after being diagnosed with a second breast cancer. We calculated 10-year incidence of second primary breast cancers. The 10-year incidence of a second primary breast cancer was highest in BRCA1 mutation carriers (17 %; 95 % CI 11–25 %), with even higher estimates in those first diagnosed under the age of 40 (21 %; 95 % CI 13–34 %). Lower rates were found in BRCA2 mutation carriers (7 %; 95 % CI 3–15 %) and women with a variant of unknown clinical significance (6 %; 95 % CI 4–9 %). Whereas the cumulative 10-year incidence of second primary breast cancer is high in BRCA1 mutation carriers, the estimates in BRCA2 mutation carriers and women with variants of unknown clinical significance are similar to those reported in women with sporadic breast cancer.


Breast cancer BRCA Second primary 



This work was supported by grant UM1 CA164920 from the USA National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR.

Conflict of interest

Dr. Chung has stock ownership and consulting role in Bioreference Laboratories.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Tehillah S. Menes
    • 1
    • 2
    Email author
  • Mary Beth Terry
    • 3
    • 4
  • David Goldgar
    • 5
  • Irene L. Andrulis
    • 6
  • Julia A. Knight
    • 7
    • 8
  • Esther M. John
    • 9
    • 10
  • Yuyan Liao
    • 3
  • Melissa Southey
    • 11
  • Alexander Miron
    • 12
  • Wendy Chung
    • 13
  • Saundra S. Buys
    • 14
  1. 1.Department of SurgeryTel Aviv Sourasky Medical CenterTel AvivIsrael
  2. 2.Sackler School of MedicineTel Aviv UniversityTel AvivIsrael
  3. 3.Department of EpidemiologyMailman School of Public HealthNew YorkUSA
  4. 4.Herbert Irving Comprehensive Cancer CenterColumbia UniversityNew YorkUSA
  5. 5.Department of Dermatology, Huntsman Cancer InstituteUniversity of Utah School of MedicineSalt Lake CityUSA
  6. 6.Department of Molecular Genetics, Samuel Lunenfeld Research InstituteMount Sinai HospitalTorontoCanada
  7. 7.Samuel Lunenfeld Research InstituteMount Sinai HospitalTorontoCanada
  8. 8.Division of Epidemiology, Dalla Lana School of Public HealthUniversity of TorontoTorontoCanada
  9. 9.Cancer Prevention Institute of CaliforniaFremontUSA
  10. 10.Division of Epidemiology, Department of Health Research and Policy, and Stanford Cancer InstituteStanford University School of MedicineStanfordUSA
  11. 11.Department of PathologyThe University of MelbourneMelbourneAustralia
  12. 12.Department of Genetics and Genome SciencesCase Western Reserve University Medical SchoolClevelandUSA
  13. 13.Department of Pediatrics and MedicineColumbia UniversityNew YorkUSA
  14. 14.Huntsman Cancer InstituteUniversity of Utah Health Sciences CenterSalt Lake CityUSA

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