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BRCA1 Gene Mutation: Women at Increased Risk of Aggressive Uterine Cancer in addition to breast and ovarian cancer

07 Aug 2018

BRCA1 and BRCA2 genes regulate the prosecution of tumor suppressor proteins in humans to repair damaged DNA. When one of these genes gets mutated, cell will develop additional genetic alteration which ultimately leads to the cancer.Mutation in BRCA1 and BRCA 2 account for 5-10% of breast cancers and 15% of ovarian cancers.

A recent study by Shu et al, published in JAMA (Journal of American Medical Association) issue of Jun 30, 2016 demonstrated a new association between BRCA genes and serous uterine cancer, an aggressive and lethal cancer with a 50% mortality rate.

It was a multi-centric study with 1083 BRCA1 and 2 positive women, who had undergone fallopian tube and ovaries removal as a preventive measure. They were followed for a median of 5.1 years.

Results showed a statistically non significant occurrence of 8 uterine cancers, out of which 5 were serous endometrial cancers (BRCA1: 4; BRCA2: 1), 7.2 to 12.9 years after risk-reducing salpingo-oophorectomy.

Historical data estimates suggest 0.18 cases in this population for serous endometrial cancers for BRCA1 and 0.16 for BRCA2, but the 4 cases observed here denotes a significant additional risk of 2.5 to 4.7% for serous uterine cancer with BRCA1 mutation over 25 years (as mentioned by Kauff).

This study suggests removal of uterus may need to be discussed along with ovaries and fallopian tubes for women with BRCA1 and BRCA2 mutations but more evidence is required from large scale and long term studies along with evaluation of costs and potential complications.

Another study by Jones et al, in 2015, also shows that in a total of 628 patients of uterine serous carcinoma, 9% had BRCA1 mutation.

Hence, it is critical on the part of the treating oncophysicians to suspect the possibility of the occurrence of this grave cancer for timely detection and appropriate treatment to improve the health related outcome.

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