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


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.


Breast Cancer BRCA E143X Hereditary 


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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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