Breast Cancer

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CASE 2 1. Most likely cancer gene: Breast cancer (BRCA) gene.

This young woman has developed cancer at age 32 years. Moreover, she has two first-degree relatives with breast and/or ovarian cancer prior to menopause. This makes BRCA gene mutation likely. The BRCA1 gene resides on chromosome 17. This gene encodes a protein which most likely is important in DNA repair. Thus, a mutation of the BRCA1 gene likely leads to abnormal cells propagating unchecked.

2. Likely mechanism: Inhibition of tumor-suppressor gene The BRCA1 tumor suppressor interacts with numerous cellular proteins in large complexes. This includes a variety of proteins implicated in various DNA repair and cell cycle processes. In fact, BRCA1 has been reported to interact with as many as 50 proteins. Moreover, BRCA1 has been shown to function in various transcriptional mechanisms, suggesting that the function of this important may go well beyond its well-documented role in DSB repair. How the inactivation of BRCA1 remains a mystery and the subject of much debate. Given that BRCA1 appears to have key roles in transcriptional regulation, it has been suggested that breast tissue differs from other tissues in the types of DNA repair processes that are used. Perhaps there are redundant DNA repair pathways in non-mammary tissue.

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