Implications of BRCA Testing in a 27-Year-Old Breast-Feeding Mother With a Strong Family History of Malignancy

Abstract

Confidence in identifying and ease of testing for BRCA1 and BRCA2 gene mutations has led to general clinicians ordering BRCA1 and BRCA2 mutations testing more frequently than other cancer genetic tests. When present, these mutations increase breast and ovarian cancer risk dramatically as well as several other cancers. In years past, identification of mutations was saved for an older high-risk patient population; data supporting current management recommendations studied a population mirroring that group. Now, an increasingly younger patient population is having the mutation identified and facing increasingly complicated decisions regarding lifetime risk. Presented here is a case of a 27-year-old breast-feeding mother of two with a strong breast cancer family history, who was found to have an enlarged lymph node and newly identified with a BRCA1 gene mutation. Current recommendation for screening and breastfeeding are presented as well as psychological implication on this increasingly young BRCA1 and BRCA2 gene mutation positive population.




J Med Cases. 2013;4(6):372-375
doi: https://doi.org/10.4021/jmc1148w