Onkologie. 2013:7(5):225-228

Hereditary breast cancer

Martina Zimovjanová
Onkologická klinika VFN a 1. LF UK Praha

Hereditary predisposition causes neoplastic disease in 5–10% of patients with breast cancer. Molecular- genetic testing of high- penetrant

genes is standard of clinical care about patients with breast and ovarian cancer, who meet the criteria for testing. Therapy of hereditary

mutation associated breast cancer is not different from sporadic breast cancer therapy nowadays. Prognosis of patients with BRCA1, BRCA2

mutation associated breast cancer may be different from sporadic breast cancer patients due to the existing systemic treatment options

and higher risk of other malignant disease. The aim of this article is to review the current knowledge of BRCA1 and BRCA2 functions and

other predisposition genes, comparison of hereditary BRCA mutation associated breast cancer with „BRCAness“ sporadic breast cancer,

and distinct effectiveness of oncological treatment in this specific subgroup of breast cancer patients.

Keywords: BRCA1, BRCA2, triple negative breast cancer, chemotherapy, PARP inhibitors

Published: November 1, 2013  Show citation

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Zimovjanová M. Hereditary breast cancer. Onkologie. 2013;7(5):225-228.
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References

  1. Venkitaraman AR. Functions of BRCA1 and BRCA2 in the biological response to DNA damage. Journal of Cell Science 2001; 114: 3591-3598. Go to original source... Go to PubMed...
  2. Allain DC."Genetic counseling and testing for common hereditary breast cancer syndromes a Paper from the 2007 William Beaumont hospital symposium on molecular pathology" Journal of Molecular Diagnostics, 2008; 34: 1007-1011.
  3. Weitzel JM, Gonzalez KD, Noltner KA, et al. Beyond Li Fraumeni syndrome: " Clinical characteristics of families with p53 germline mutations". Journal of Clinical Oncology 2009; 27(3): 1250-1256. Go to original source... Go to PubMed...
  4. Turnbull C, Rahman N. Genetic predisposition to breast cancer: past, present and future. Ann Rev Genomics Hum Genetics 2008; 9: 321-345. Go to original source... Go to PubMed...
  5. Sotiriou C, Puaztai L. Gene-expression signatures in breast cancer. N Engl J Med 2009; 360: 790-800. Go to original source... Go to PubMed...
  6. Bertucci F, Finetti P, Birnbaum D, Basal breast cancer: a complex and deadly molecular subtype. Curr Mol Med 2012; 12: 96-110. Go to original source... Go to PubMed...
  7. Breton JD, Carey LA, Ahmed AA, Caldas C. Molecular classification and molecular forecasting of breast cancer: ready for clinical application? J Clin Oncol 2005; 23: 7350-7360. Go to original source... Go to PubMed...
  8. Linderholm BK, Hellborg H, Johansson U, et al. Significantly higher levels of vascular endothelial growth factor (VEGF) and shorter survival times for patients with primary operable triple-negative breast cancer. Annals of Oncol 2009; 20: 1639-1646. Go to original source... Go to PubMed...
  9. Shousha S. Medulary carcinoma of the breast and BRCA1 mutation. Histopathology, 2000; 37: 182-185. Go to original source... Go to PubMed...
  10. Kaas R, Muller SH, Hart AA and Rutgerst J. Stage of breast cancer found during the surveillance of women with a familial or heriditary risk. Eur J Surg Oncol 2008; 34: 501-507. Go to original source... Go to PubMed...
  11. Lux MP, Fasching PA, Beckmann MW. Hereditary breast and ovarian cancer.review and future perspectives. J Mol Med 2006; 84: 16-28. Go to original source... Go to PubMed...
  12. Fulford LG, Reis-Filho JS, Ryder K, et al. Basal-like grade III invasive ductal carcinoma of the breast: patterns of metastasis and long-term survival. Breast Cancer Res 2007; 9: R4. Go to original source... Go to PubMed...
  13. Liebens FP, Carly B, Pastijn A and Rozenberg S. Management of BRCA1/2 associated breast cancer: A systematic qualitative review of the state of knowledge in 2006; 2007; 43: 238-257. Go to original source... Go to PubMed...
  14. Osin PP, et al. Lakhani SR. The pathology of familial breast cancer: immunohistochemistry and molecular analysis. Breast Cancer Res. 1999; 1: 36-40. Go to original source... Go to PubMed...
  15. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. Jama. 2010; 304: 967-975. Go to original source... Go to PubMed...
  16. Foulkes WD: BRCA1 and BRCA2: Chemosenzitivity, treatment outcomes and prognosis. Fam Cancer 2006; 5: 135-142. Go to original source... Go to PubMed...
  17. Byrski T, Gronwald J, Huzarski T, et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010; 28: 375-379. Go to original source... Go to PubMed...
  18. Arun B, Bayraktar S, Liu DD, et al. Response to neoadjuvant systemic therapy for breast cancer in BRCA mutation carriers and noncarriers: a single -institution experience. J Clin Oncol 2011; 29: 3739-3746. Go to original source... Go to PubMed...
  19. Kriege M, Jager A, Hooning MJ, et al. The efficacy of taxane chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer 2012; 118: 899-907. Go to original source... Go to PubMed...
  20. Tutt A, Robson M, Garber JE, et al. Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced brest cancer: a proof-of-concept trial. Lancet 2010; 376: 235-244. Go to original source... Go to PubMed...
  21. O'Shaughnessy J, Osborne C, Piplen JE, et al. Iniparib plus chemotherapy in metastatic triple-negative breast cancer. New Engl J Med 2011; 364: 205-214. Go to original source... Go to PubMed...
  22. O'Shaughnessy J, Schwartzberg LS, Danso MA. A randomised phase III study of iniparib (BSI-201) in combination with gemcitabine/carboplatin (G/C) in metastatic triplenegative breast cancer (TNBC). J Clin Oncol 2011; 29(Suppl): Abstract 1007. Go to original source...
  23. Miles DW, Romieu G, Dieras V, et al. Meta-analysis of patients (PTS) previously treated with taxanes from three randomized trials of bevacizumab (BV) and first-line chemotherapy as treatment for metastatic breast cancer (MBC). Ann Oncol 2010; 26(Suppl2): 15s-15s.




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