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Breast Cancer Research and Treatment

, Volume 131, Issue 1, pp 217–222 | Cite as

Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients

  • Jae Myoung Noh
  • Doo Ho Choi
  • Seok Jin Nam
  • Jeong Eon Lee
  • Jong Won Kim
  • Sung-Won Kim
  • Eunyoung Kang
  • Min Hyuk Lee
  • Sei Hyun Ahn
  • Ku Sang Kim
  • Sue K. Park
  • Bruce G. Haffty
  • Korea Breast Cancer Study Group
Epidemiology

Abstract

To investigate clinical, pathological, and familial characteristics of Korean patients with double heterozygosity for BRCA1 and BRCA2 mutations, six breast tumors of five patients who carried deleterious mutations in both of the genes were included. Medical records of the patients were reviewed and genetic testing by direct sequencing was undertaken to detect mutations in BRCA1 and BRCA2. Seven frameshift and three nonsense mutations were identified, and four mutations are novel in the Breast Cancer Information Core. There were no Ashkenazi founder mutations detected. The mean age at diagnosis for breast cancer was 33 years. All six tumors were infiltrating ductal carcinoma and poorly differentiated. Pathologic stage was I or II, and immunohistochemistry showed negative immunoreactivity for estrogen receptor and Her-2/neu in all tumors. Positive immunoreactivity for progesterone receptor was found only in one tumor. Three patients had familial history of breast, ovarian or other cancers. One patient who was diagnosed for breast cancer at the age of 26 had two maternal family members of metachronous bilateral breast cancer. Another patient who experienced metachronous bilateral breast cancer had maternal history of ovarian and esophageal cancer. In summary, Korean patients with double heterozygosity for BRCA1 and BRCA2 were young at diagnosis of breast cancer. Tumors were early stage, high grade, and almost triple-negative phenotype. All familial history of breast, ovary or other cancer was maternal. Close surveillance and accurate risk assessment should be provided for the patients with mutations in the both of the genes.

Keywords

Breast cancer BRCA1 gene BRCA2 gene Heterozygote 

Notes

Acknowledgments

This study was partly supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare, and Family Affairs, Republic of Korea (#1020350).

Conflict of interest

None.

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Copyright information

© Springer Science+Business Media, LLC. 2011

Authors and Affiliations

  • Jae Myoung Noh
    • 1
  • Doo Ho Choi
    • 1
  • Seok Jin Nam
    • 2
  • Jeong Eon Lee
    • 2
  • Jong Won Kim
    • 3
  • Sung-Won Kim
    • 4
  • Eunyoung Kang
    • 4
  • Min Hyuk Lee
    • 5
  • Sei Hyun Ahn
    • 6
  • Ku Sang Kim
    • 7
  • Sue K. Park
    • 8
    • 9
    • 10
  • Bruce G. Haffty
    • 11
  • Korea Breast Cancer Study Group
    • 12
  1. 1.Department of Radiation Oncology, Samsung Medical CenterSungkyunkwan University School of MedicineGangnam-gu, SeoulKorea
  2. 2.Department of Surgery, Samsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea
  3. 3.Department of Laboratory Medicine and Genetics, Samsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea
  4. 4.Department of SurgerySeoul National University College of MedicineSeoulKorea
  5. 5.Department of SurgerySoonchunhyang University HospitalSeoulKorea
  6. 6.Department of Surgery, Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea
  7. 7.Department of SurgeryAjou University School of MedicineSuwonKorea
  8. 8.Department of Preventive MedicineSeoul National University College of MedicineSeoulKorea
  9. 9.Department of Biomedical ScienceSeoul National University Graduate SchoolSeoulKorea
  10. 10.Cancer Research InstituteSeoul National UniversitySeoulKorea
  11. 11.Department of Radiation OncologyRobert Wood Johnson Medical School, Cancer Institute of New JerseyNew BrunswickUSA
  12. 12.Korea Breast Cancer SocietySeoulKorea

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