Genetic testing and interpretive complexity: a BRCA1 gene mutation example.

Abstract excerpt

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...

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