A female patient presented with a firm mass of 2x2 cms in the upper outer quadrant of the breast. She gives a family history of ovarian carcinoma. The investigation that needs to be done to assess for mutations is: (AIIMS Nov 2013)
|C||Her 2/Neu gene|
In women with hereditary breast/ovarian cancer, there can be two susceptibility loci:
• BRCA1 located on chromosome 17q12-21, and
• BRCA2 located on 13q12-13.
Both these are tumor-suppressor genes which produce nuclear proteins that interact with RAD 51
Affecting genomic integrity.
The cumulative risk of ovarian cancer with critical mutations of BRCAL or - BRCA 2 is 25%. Men in such families have an increased risk of prostate cancer.