Wednesday, January 16, 2013

BRCA 1,2  
BR=Breast   CA=cancer
Tumor suppressor gene which encodes a protein regulator of transcription gene involved with cell proliferation (once again it is a regulator that is involved!)

1. Prophylactic Bilateral mastectomy reduces the short term risk of Breast cancer, and overall risk by 90%
2.Adding Bilateral Salpingo-Oophorectomy decreases risk of Breast and Ovarian cancer.
3.BRCA1 high grade and Hormone Receptor Negative, majority are basal like subtype  (but also more Atypia and Medullary histology found here!
4.whereas BRCA2 are more likely receptor positive and of luminal subtype
5. Risk of contralateral breast cancer in those with the disease 50-60%
6.BRCA 2 increases risk of Gastric,bilary,gallbladderand pancreatic cancer also.
7. The 2 HITS Theory assumes that the first hit is to have the abnormality but with the protecting presence of the normal BRCA gene.  The second (environment factor) Hit knock out the normal BRCA to unleash the effect of the abormal BRCA1-100
IF YOU HAVE IT
1-Abide by strict surveillance protocol
2-Bilateral protective Mastectomy
3. Bilateral protective Oophorectomy
4. participation in preventive research drug (Tamoxifen,Raloxifen)

and know about possibility of insurance issues that may arise
SEE A GENETIC COUNSELOR PRIOR TO TESTING!

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