Genetic testing and interpretive complexity: a BRCA1 gene mutation example.
Ir J Med Sci
; 185(4): 955-957, 2016 Nov.
Article
in En
| MEDLINE
| ID: mdl-25503966
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.
Key words
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Collection:
01-internacional
Health context:
2_ODS3
Database:
MEDLINE
Main subject:
Breast Neoplasms
/
Codon, Nonsense
/
Genes, BRCA1
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Ir J Med Sci
Year:
2016
Document type:
Article