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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)

A p53

C Her 2/Neu gene
D C-myc gene

Ans. C Lobular

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.