Onkologie. 2009:3(6):348-350

Hereditary breast cancer - an example of uncommon breast cancer in population

Martina Zimovjanová
Onkologická klinika VFN a 1. LF, Praha

Germline mutations in either the BRCA1 or BRCA2 gene account for approximately from five to ten percent of breast cancers in population.

Breast cancers caused by mutations of BRCA1 a BRCA2 genes have usually different histopatologic characteristics and also different

biological behaviour. Individualization of therapy based on the knowledge of the molecular prognostic and predictive markers is goal of

modern oncologic treatment, and BRCA1 and BRCA2 expression might be one of them. BRCA1 or BRCA2 deficiency is not only a possible

prognostic factor and predictor of response to systemic standard chemotherapy, but might also be a predictor for type of response to

a new targeted therapy.

Keywords: BRCA1, BRCA2, mutation, hereditary predisposition, triple negative breast cancer (TNBC).

Published: January 1, 2010  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Zimovjanová M. Hereditary breast cancer - an example of uncommon breast cancer in population. Onkologie. 2009;3(6):348-350.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    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. Foretová L. Genetika nádorů prsu. Onkologie, 2008; 2(1): 44-48.
    3. 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...
    4. Nielsen TO, Hsu FD, Jensen K, et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res 2004; 10: 1275-1281. Go to original source... Go to PubMed...
    5. 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...
    6. Shousha S. Medulary carcinoma of the breast and BRCA1 mutation. Histopathology 2000; 37: 182-185. Go to original source... Go to PubMed...
    7. Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesteron receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002; 20: 2310-2318. Go to original source... Go to PubMed...
    8. Park PC et De Boni U. A specific conformation of the territory of chromosome 17 locates ERBB-2 sequences to a DNase-hypersensitive domain at the nuclear periphery. Chromosoma 1998; 107: 87-95. Go to original source... Go to PubMed...
    9. 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...
    10. 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...
    11. 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...
    12. Osin PP, et 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...
    13. Dent R, Trudeau M, Pritchard KI, et al. Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Res 2007; 13: 4429-4434. Go to original source... Go to PubMed...
    14. Carey LA, Dees EC, Sawyer L, et al. The triple negative paradox: primary tumor chemosenzitivity of breast cancer subtypes. Clin Cancer Res 2007; 13: 2329-2502. Go to original source... Go to PubMed...
    15. Kennedy RD, Quinn JE, Mullan PB, et al. The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 2004; 96: 1659-1668. 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. James CR, Quinn JE, Mullan PB, et al. BRCA1, a potential predictive biomarker in the treatment of breast cancer. Oncologist 2007; 12: 142-150. Go to original source... Go to PubMed...
    18. Robson ME. Treatment of hereditary breast cancer. Semin Oncol 2007; 34: 384-391. Go to original source... Go to PubMed...
    19. Byrski T, Gronwald J, Huzarski T, et al. Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 2008; 108: 289-296. Go to original source... Go to PubMed...
    20. Chappuis PO, Giffin J, Wong N, et al. A significaant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. Ann Oncol 2002; 17: 608-610. Go to original source...
    21. Berry DA, Broadwater G, Klein JP, et al. High-dose chemotherapy with autologous stem-cell support versus standard-dose chemotherapy: meta-analysis of individual patient data from 15 randomized adjuvant breast cancer trials. Breast Cancer Res. Treat 2007; 106(suppl.1): S5.
    22. Kurebayashi J, Yamamoto Y, Kurosumi M, et al. Loss of BRCA1 expression may predict shorter time-to-progression in metastatic breast cancer patients treated with taxanes. Anticancer Res 2006; 26: 695-701. Go to PubMed...
    23. Kriege M, Seynaeve C, Meijers-Heijboer H, et al. Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009; 27(23): 3764-3771. Go to original source... Go to PubMed...
    24. Schneider BP, Wang M, Radovich M, et al. Association of vascular endothelial growth factor and VEGFR-2 genetic poymorphisms with outcome in a trial of paclitaxel compared with paclitaxel + bevacizumab in advanced breast cancer: ECOG 2100. J Clin Oncol 2008; 26: 4672-4678. Go to original source... Go to PubMed...
    25. Colleoni M, Rocca A, Sandri MT, et al. Low dose oral methotrexate and cyclophosphamide in metastatic breast cancer: antitumor activity and correlation with vascular endothelial growth factor levels. Ann Oncol 2002; 13: 73-80. Go to original source... Go to PubMed...
    26. Tutt A, Robson M, Garber JE, et al. Phase II trial of the PARP inhibitor olaparib in BRCA-deficient advanced breast cancer. J Clin Oncol 2009; 27 suppl. (abstr. 501). Go to original source...
    27. O'Shaughnessy J, Osborne C, Piplen J, et al. Efficacy of BSI201, a poly (ADP-ribose) polymerase 1 (PARP 1) inhibitor, in combination with gemcitabine/carboplatin (G/C) in patients with triple-negative breast cancer (TNBC): Results of a randomised phase II trial. J Clin Oncol 2009; 18 suppl. (abstr. 3). Go to original source... Go to PubMed...
    28. Edwards SL, Brough R, Lord CJ, et al. Resistence to therapy cause by intragenic deletion in BRCA2. Nature 2008; 451: 1111-1115. Go to original source... Go to PubMed...
    29. Sakai W, Swisher EM, Karlan BY, et al. Secondary mutations as a mechanism of cispatin resistence in BRCA2-mutated cancers. Nature 2008; 451: 1116-1120. Go to original source... Go to PubMed...

    Return to the content


    Oncology

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.