MutationBefore we go into the findings, let’s make clear what exactly the BRCA gene is. First of all, BRCA genes: BRCA1 & BRCA2 are not the culprits here. The “mutation” of these genes is the villain. In fact, BRCA1 & BRCA2 are simply human genes found in breast tissue. They help repair damaged DNA and will destroy the body’s own cells if the DNA of that cell cannot be repaired. They repair chromosomal damage.

Now, if BRCA1 & BRCA2 themselves are damaged by a mutation, then there is an increased risk of developing breast cancers. So remember BRCA1 & BRCA2 are “normal.”

According to a new study published in JAMA, women that have mutation of the BRCA1 gene, which has associated with both breast and ovarian cancers, are also at risk for a deadly form of uterine cancer — Serous Endometrial Carcinoma. The study links the presence of the mutated BRCA1 gene and Serous Endometrial Carcinoma, a cancer that is specific to the lining of the uterus and carries a 50% mortality rate.

The BRCA1 gene mutation came into the international spotlight when actress Angelina Jolie underwent both a double mastectomy in 2013 and hysterectomy in 2015 after testing positive for it. Some women choose to remove their breasts, ovaries, and fallopian tubes if the BRCA1 gene mutation is detected in their bodies rather than risk the possible development of cancers.

The five-year study had over 1000 participants within the US and UK. Each of the participants were carriers of either the BRCA1 or BCRA2 mutation and had their ovaries and fallopian tubes removed prior to participating in the study. Scientists discovered that eight women out of a pool of well over 1000 developed uterine cancer. Now this rate was slightly higher but in line with national statistics. Closer analysis revealed that five of eight cases of uterine cancer were Serous Endometrial Cancer — not a common cancer, and each case but one showed the BRCA1 gene mutation. The rate of Serous Endometrial Cancer was over 20 times higher than what was predicted by scientists.

Serous Endometrial Cancer causes 40% of all deaths attributable to uterine cancer but only presents in 10% of uterine cancers. So out of all forms of uterine cancer, Serous Endometrial Cancer only adds up to 10% of diagnosis but accounts for 40% of overall fatalities due to uterine cancers.

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