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Breast Cancer Research and Treatment

, Volume 178, Issue 1, pp 231–237 | Cite as

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

  • Rinat Bernstein-Molho
  • Inbal Barnes-Kedar
  • Mark D. Ludman
  • Gili Reznik
  • Hagit Baris Feldman
  • Nadra Nasser Samra
  • Avital Eilat
  • Tamar Peretz
  • Lilach Peled Peretz
  • Tamar Shapira
  • Nurit Magal
  • Marina Lifshitc Kalis
  • Rinat Yerushalmi
  • Chana Vinkler
  • Sari Liberman
  • Lina Basel-Salmon
  • Mordechai Shohat
  • Ephrat Levy-Lahad
  • Eitan Friedman
  • Lily Bazak
  • Yael GoldbergEmail author
Epidemiology

Abstract

Purpose

While the spectrum of germline mutations in BRCA1/2 genes in the Israeli Jewish population has been extensively studied, there is a paucity of data pertaining to Israeli Arab high-risk cases.

Methods

Consecutive Israeli Arab breast and/or ovarian cancer patients were recruited using an ethically approved protocol from January 2012 to February 2019. All ovarian cancer cases were referred for BRCA genotyping. Breast cancer patients were offered BRCA sequencing and deletion/duplication analysis after genetic counseling, if the calculated risk for carrying a BRCA mutation by risk prediction algorithms was ≥10%.

Results

Overall, 188 patients participated; 150 breast cancer cases (median age at diagnosis: 40 years, range 22–67) and 38 had ovarian cancer (median age at diagnosis: 52.5 years, range 26–79). Of genotyped cases, 18 (10%) carried one of 12 pathogenic or likely-pathogenic variants, 12 in BRCA1, 6 in BRCA2. Only one was a rearrangement. Three variants recurred in more than one case; one was detected in five seemingly unrelated families. The detection rate for all breast cancer cases was 4%, 5% in bilateral breast cancer cases and 3% if breast cancer was diagnosed < 40 years. Of patients with ovarian cancer, 12/38 (32%) were carriers; the detection rate reached 75% (3/4) among patients diagnosed with both breast and ovarian cancer.

Conclusions

The overall yield of comprehensive BRCA1/2 testing in high-risk Israeli Arab individuals is low in breast cancer patients, and much higher in ovarian cancer patients. These results may guide optimal cancer susceptibility testing strategy in the Arab–Israeli population.

Keywords

Israeli Arabs Breast cancer BRCA1 BRCA2 Recurrent mutations Ovarian cancer 

Notes

Funding

This study was not funded by any grant.

Compliance with ethical standards

Conflict of interest

All authors declare no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the IRB in the participating institutions.

Informed consent

As data were aggregative and anonymous no informed consent was required by the institutional IRB.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Rinat Bernstein-Molho
    • 1
    • 15
  • Inbal Barnes-Kedar
    • 2
  • Mark D. Ludman
    • 3
  • Gili Reznik
    • 4
  • Hagit Baris Feldman
    • 4
    • 5
  • Nadra Nasser Samra
    • 6
    • 7
  • Avital Eilat
    • 8
  • Tamar Peretz
    • 9
  • Lilach Peled Peretz
    • 10
  • Tamar Shapira
    • 11
  • Nurit Magal
    • 2
  • Marina Lifshitc Kalis
    • 2
  • Rinat Yerushalmi
    • 12
  • Chana Vinkler
    • 13
  • Sari Liberman
    • 14
  • Lina Basel-Salmon
    • 2
    • 16
  • Mordechai Shohat
    • 11
  • Ephrat Levy-Lahad
    • 14
  • Eitan Friedman
    • 15
    • 16
  • Lily Bazak
    • 2
  • Yael Goldberg
    • 2
    • 11
    Email author
  1. 1.Breast Cancer Center, Oncology InstituteChaim Sheba Medical CenterTel-HashomerIsrael
  2. 2.Recanati Genetics Institute, Beilinson HospitalRabin Medical CenterPetach TikvaIsrael
  3. 3.Medical Genetics InstituteMeir Medical CenterKfar SavaIsrael
  4. 4.The Genetics InstituteRambam Health Care CampusHaifaIsrael
  5. 5.The Ruth and Bruce Rappaport Faculty of MedicineTechnion – Israel Institute of TechnologyHaifaIsrael
  6. 6.Genetic UnitZiv Medical CenterTzfatIsrael
  7. 7.Faculty of MedicineBar Ilan UniversityTzfatIsrael
  8. 8.Center for Clinical GeneticsHebrew University Hadassah Medical CenterJerusalemIsrael
  9. 9.Sharett Institute of OncologyHebrew University-Hadassah Medical CenterJerusalemIsrael
  10. 10.The Genetics InstituteThe Emek Medical CenterAfulaIsrael
  11. 11.Maccabi Health ServicesRehovotIsrael
  12. 12.Davidoff Cancer CenterRabin Medical Center, Beilinson HospitalPetah TikvaIsrael
  13. 13.Institute of Medical Genetics, Wolfson Medical CenterHolonIsrael
  14. 14.Medical Genetics InstituteShaare Zedek Medical CenterJerusalemIsrael
  15. 15.Susanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human GeneticsChaim Sheba Medical CenterTel-HashomerIsrael
  16. 16.The Sackler School of MedicineTel-Aviv UniversityTel-AvivIsrael

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