Abstract
21178 Introduction: Silver Russell Syndome (SRS) is a heterogeneous disorder of asymmetric growth retardation and typical dysmorphic features often associated with maternal disomy 7 and chromosome 17q23–24. The BRCA1 gene is found on 17q21. The relationship between SRS and breast cancer has not been described to date. Case Presentation: We report a case of a 37 year old male diagnosed with metastatic breast cancer involving the liver and bone. Patient presented with a left proximal hip fracture related to metastatic bone disease. Biopsy of the right breast lesion revealed a moderately differentiated adenocarcinoma consistent with breast primary. Abdominal ultrasound and full body bone scan revealed extensive liver and bone metastases. There was no significant family history of cancer, specifically breast nor ovarian cancer. Discussion: The BRCA2 gene is known to be responsible for DNA repair. The SRS cases associated with chromosome 17q24–25 abnormalities are known to be associated with growth hormone deletions. Further investigations into this relationship are warranted. No significant financial relationships to disclose.
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