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BRCA1 mutation presenting with primary breast, ovarian and colon cancer

Ashiq Masood, Kanan H. Hudhud, A. Zakaria Hegazi, Naresh C. Gupta

Am J Case Rep 2008; 9:338-341

ID: 865175


Background: The BRCA 1 and BRCA 2 mutation carriers are well known to predispose for breast and ovarian cancer, but there are mixed reports for colon cancer. Some studies have suggested an increased risk of colorectal cancer among mutation carriers, whereas other studies have found no such association. We are presenting an interesting case of a woman with a strong family history of ovarian cancer. She initially presented with left breast cancer and was later found to have right primary ovarian and adenocarcinoma of colon. We are not aware that this type of case has ever been reported.
Case Report: The 48-year-old Caucasian woman with strong family history of ovarian cancer diagnosed of infiltrating ductal breast carcinoma of left breast following discovery of left breast lump. She underwent lumpectomy, radiation, and chemotherapy for breast cancer. The breast tumor was estrogen receptor and progesterone receptor negative. The patient was tested BRCA 1 positive. Although patient was planned for risk reducing surgery following breast cancer treatment in the form of bilateral mastectomy, right salpingo-oophrectomy and hysterectomy, she unfortunately was found to have primary right ovarian malignancy and adenocarcinoma of sigmoid colon.
Conclusions: There are mixed reports of association of BRCA mutation with Colon cancer. More studies are needed to settle this issue. Till clear guidelines become available, surveillance remains the paramount way of management for patients with known BRCA mutations.

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