Faulty ARID1A genes implicated in genesis from endometriosis to cancer

-- Monica Smith

Wednesday, September 8, 2010 (Last Updated: 09/09/2010)

WEDNESDAY, Sept. 8 (HealthDay News) -- Researchers may have discovered the molecular pathway by which endometriosis begins to progress to ovarian clear-cell and endometrioid carcinomas, according to a study published online Sept. 9 in the New England Journal of Medicine.

Kimberly C. Wiegand, of the British Columbia Cancer Agency in Vancouver, Canada, and colleagues sequenced the whole transcriptomes of one ovarian clear-cell carcinoma cell line and 18 ovarian clear-cell carcinomas. They found somatic mutations in ARID1A, which encodes BAF250a. They then sequenced ARID1A in 210 ovarian carcinomas and an ovarian clear-cell carcinoma cell line and measured BAF250a expression in 455 more ovarian carcinomas.

ARID1A mutations were found in 55 (46 percent) of 119 ovarian clear-cell carcinomas and 10 (30 percent) of 33 endometrioid carcinomas, but in none of 76 high-grade serous ovarian carcinomas. The researchers also found a strong correlation between a loss of BAF250a and ovarian clear-cell carcinomas, endometrioid carcinoma subtypes, and ARID1A mutations.

"These data implicate ARID1A as a tumor-suppressor gene frequently disrupted in ovarian clear-cell and endometrioid carcinomas. Since ARID1A mutation and loss of BAF250a can be seen in preneoplastic lesions, we speculate that this is an early event in the transformation of endometriosis into cancer," the authors write.

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Specialties Internal Medicine
Family Practice
Hematology & Oncology

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