title: Genetic testing and interpretive complexity: a BRCA1 gene mutation example.
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.
authors.affiliation: Department of Medical Oncology, Mater Hospital, 73 Eccles St, Dublin 7, Ireland. gogartyd@gmail.com.
authors.forename: D S
authors.initials: DS
authors.lastname: Gogarty
authors.affiliation: Department of Medical Oncology, Mater Hospital, 73 Eccles St, Dublin 7, Ireland.
authors.forename: M P
authors.initials: MP
authors.lastname: Farrell
authors.affiliation: Department of Medical Oncology, Mater Hospital, 73 Eccles St, Dublin 7, Ireland.
authors.forename: D J
authors.initials: DJ
authors.lastname: Gallagher
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D003376:Counseling; D005260:Female; D019398:Genes, BRCA1 / Q000502:physiology*; D024522:Genes, BRCA2 / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D018570:Risk Assessment / Q000379:methods
chemical_list: D019313:BRCA1 Protein; D018389:Codon, Nonsense
keywords: BRCA; Breast; Cancer; E143X; Hereditary