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Irish Journal of Medical Science (1971 -)

, Volume 185, Issue 4, pp 955–957 | Cite as

Genetic testing and interpretive complexity: a BRCA1 gene mutation example

  • D. S. Gogarty
  • M. P. Farrell
  • D. J. Gallagher
Case Based Review
  • 216 Downloads

Abstract

Diagnosis and interpretation of hereditary breast cancer can be a complex and challenging dilemma. Advances in genetic testing have resulted in guidelines for clinical evaluation and recommendations. Here, we present a case of one family with multiple cases of early-onset breast cancer, some due to a familial BRCA1 mutation but others unrelated to this pathogenic E143X nonsense mutation. In this case report, we highlight the complexities associated with adhering strictly to guidelines and highlight the need for clinical experience in when to deviate from recommended protocols.

Keywords

Breast Cancer BRCA E143X Hereditary 

References

  1. 1.
    Pharoah PDP, Day NE, Duffy S et al (1997) Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 71:800–809. doi: 10.1002/(SICI)1097-0215(19970529)71:5<800:AID-IJC18>3.0.CO;2-B CrossRefPubMedGoogle Scholar
  2. 2.
    Lalloo F, Evans DG (2012) Familial breast cancer. Clin Genet 82:105–114. doi: 10.1111/j.1399-0004.2012.01859.x CrossRefPubMedGoogle Scholar
  3. 3.
    Antoniou A, Pharoah PDP, Narod SA et al (2003) Average risks of breast and ovarian cancer associated with mutations in BRCA1 or BRCA2 detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:117–1130. doi: 10.1086/375033 CrossRefGoogle Scholar
  4. 4.
    Metcalfe K, Lubinski J, Lynch HT et al (2010) Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. JNCI J Natl Cancer Inst 102:1874–1878. doi: 10.1093/jnci/djq443 CrossRefPubMedGoogle Scholar
  5. 5.
    Mohamad HB, Apffelstaedt JP (2008) Counseling for male BRCA mutation carriers—a review. Breast 17:441–450. doi: 10.1016/j.breast.2008.05.001 CrossRefPubMedGoogle Scholar
  6. 6.
    Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108:171–182. doi: 10.1016/S0092-8674(02)00615-3 CrossRefPubMedGoogle Scholar
  7. 7.
    NCCN Clinical Practice Guidelines in Oncology (2012) Genetic/familial high-risk assessment: breast and ovarian. Version 1Google Scholar
  8. 8.
    Buys SS, Partridge E, Black A et al (2011) Effect of screening on ovarian cancer mortality the prostate, lung, colorectal and ovarian (PLCO) cancer screening randomized controlled trial. JAMA 305(22):2295–2303. doi: 10.1001/jama.2011.766 CrossRefPubMedGoogle Scholar
  9. 9.
    Kauff ND, Mitra N, Robson ME et al (2005) Risk of ovarian cancer in BRCA1 and BRCA2 mutation negative hereditary breast cancer families. J Natl Cancer Inst 97(18):1382–1384. doi: 10.1093/jnci/dji281 CrossRefPubMedGoogle Scholar

Copyright information

© Royal Academy of Medicine in Ireland 2014

Authors and Affiliations

  • D. S. Gogarty
    • 1
  • M. P. Farrell
    • 1
  • D. J. Gallagher
    • 1
  1. 1.Department of Medical OncologyMater HospitalDublin 7Ireland

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