Skip to main content

BRCA Patient Population

  • Chapter
  • First Online:
Breast Cancer Prevention and Treatment
  • 1339 Accesses

Abstract

Less than 10 % of breast cancers are due to hereditary triggers. The majority are hereditary mutations in single, dominant genes although more recent hypotheses are suggesting the implication of yet unidentified genes in a larger proportion of the sporadic cluster of breast cancers.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med. 2008;359(20):2143–53.

    Article  CAS  PubMed  Google Scholar 

  2. Croce CM. Oncogenes and cancer. N Engl J Med. 2008;358(5):502–11.

    Article  CAS  PubMed  Google Scholar 

  3. Sherr CJ. Principles of tumor suppression. Cell. 2004;116(2):235–46.

    Article  CAS  PubMed  Google Scholar 

  4. Breast Cancer Linkage, C. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310–6.

    Article  Google Scholar 

  5. Antoniou A, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Foulkes WD, Shuen AY. In brief: BRCA1 and BRCA2. J Pathol. 2013;230(4):347–9.

    Article  CAS  PubMed  Google Scholar 

  7. Venkitaraman AR. Functions of BRCA1 and BRCA2 in the biological response to DNA damage. J Cell Sci. 2001;114(Pt 20):3591–8.

    CAS  PubMed  Google Scholar 

  8. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329–33.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Aloraifi F, et al. Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. FEBS J. 2015;282(17):3424–37.

    Article  CAS  PubMed  Google Scholar 

  10. Malkin D. Li-fraumeni syndrome. Genes Cancer. 2011;2(4):475–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Olivier M, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003;63(20):6643–50.

    CAS  PubMed  Google Scholar 

  12. Hemminki A, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Duodecim. 1998;114(7):667–8.

    CAS  PubMed  Google Scholar 

  13. Giardiello FM, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447–53.

    Article  CAS  PubMed  Google Scholar 

  14. Beggs AD, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975–86.

    Article  CAS  PubMed  Google Scholar 

  15. Pilarski R, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.

    Article  CAS  PubMed  Google Scholar 

  16. Eng C. PTEN hamartoma tumor syndrome (PHTS). In: Pagon RA et al., editors. GeneReviews(R). Seattle: University of Washington; 1993.

    Google Scholar 

  17. Tan MH, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004;22(4):735–42.

    Article  CAS  PubMed  Google Scholar 

  19. Thompson D, Easton DF, Breast Cancer C. Linkage, cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002;94(18):1358–65.

    Article  CAS  PubMed  Google Scholar 

  20. Mavaddat N, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812–22.

    Article  CAS  PubMed  Google Scholar 

  21. Mitra AV, et al. Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int. 2011;107(1):28–39.

    Article  PubMed  Google Scholar 

  22. Atchley DP, et al. Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol. 2008;26(26):4282–8.

    Article  PubMed  Google Scholar 

  23. Rakha EA, Reis-Filho JS, Ellis IO. Basal-like breast cancer: a critical review. J Clin Oncol. 2008;26(15):2568–81.

    Article  PubMed  Google Scholar 

  24. Dent R, et al. Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Res. 2007;13(15 Pt 1):4429–34.

    Article  PubMed  Google Scholar 

  25. Wong-Brown MW, et al. Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. Breast Cancer Res Treat. 2015;150(1):71–80.

    Article  CAS  PubMed  Google Scholar 

  26. Elmore JG, et al. Screening for breast cancer. JAMA. 2005;293(10):1245–56.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. Narod SA. Screening of women at high risk for breast cancer. Prev Med. 2011;53(3):127–30.

    Article  PubMed  Google Scholar 

  28. Chiarelli AM, et al. Effectiveness of screening with annual magnetic resonance imaging and mammography: results of the initial screen from the ontario high risk breast screening program. J Clin Oncol. 2014;32(21):2224–30.

    Article  PubMed  Google Scholar 

  29. Uematsu T, Kasami M, Yuen S. Triple-negative breast cancer: correlation between MR imaging and pathologic findings. Radiology. 2009;250(3):638–47.

    Article  PubMed  Google Scholar 

  30. Lee SH, et al. Correlation between high resolution dynamic MR features and prognostic factors in breast cancer. Korean J Radiol. 2008;9(1):10–8.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Noh JM, et al. Association between BRCA mutation status, pathological findings, and magnetic resonance imaging features in patients with breast cancer at risk for the mutation. J Breast Cancer. 2013;16(3):308–14.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Gilbert FJ, et al. Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features. Radiology. 2009;252(2):358–68.

    Article  PubMed  Google Scholar 

  33. Hollingsworth AB, et al. Current comprehensive assessment and management of women at increased risk for breast cancer. Am J Surg. 2004;187(3):349–62.

    Article  PubMed  Google Scholar 

  34. Rebbeck TR, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22(6):1055–62.

    Article  PubMed  Google Scholar 

  35. Kauff ND, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol. 2008;26(8):1331–7.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Pruthi S, Gostout BS, Lindor NM. Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clin Proc. 2010;85(12):1111–20.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Rebbeck TR, et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2005;23(31):7804–10.

    Article  CAS  PubMed  Google Scholar 

  38. Rebbeck TR, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999;91(17):1475–9.

    Article  CAS  PubMed  Google Scholar 

  39. King MC, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA. 2001;286(18):2251–6.

    Article  CAS  PubMed  Google Scholar 

  40. Finch AP, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547–53.

    Article  PubMed  PubMed Central  Google Scholar 

  41. Gronwald J, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9):2281–4.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Lida A. Mina MD .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Mina, A., Mina, L.A. (2016). BRCA Patient Population. In: Breast Cancer Prevention and Treatment. Springer, Cham. https://doi.org/10.1007/978-3-319-19437-0_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-19437-0_5

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19436-3

  • Online ISBN: 978-3-319-19437-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics