Genetic testing and interpretive complexity: a BRCA1 gene mutation example

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.