Monday, January 11, 2016

More than just BRCA1 & 2

Most women diagnosed with ovarian cancer have heard of the link between germline mutations in the BRCA 1 & 2 genes and ovarian cancer. The Society of Gynecologic Oncology recommends that all women diagnosed with ovarian cancer have genetic testing for those mutations. Studies have also found that Lynch Syndrome ( formerly known as “hereditary nonpolyposis colorectal cancer” (HNPCC) ) places a women at increased risk for ovarian cancer. I wrote about these germline mutations in a blog post in September 2015.

On December 30, 2015 JAMA Oncology journal published the article

Inherited Mutations in Women With Ovarian Carcinoma

This study of 1915 women looked at the importance and prevelance of other germline ( passed from parent to child) mutations associated with ovarian cancer.

They found that 18% of the women studied carried
"pathogenic germline mutations in genes associated with OC risk. PALB2 and BARD1 are suspected OC genes and together with established OC genes (BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH2, MLH1, PMS2, and MSH6)"

So we now have 11 genes suspected of causing hereditary ovarian cancer. (Since the article is behind a paywall I could not access the complete study.) A commentary on that research can be found here. The commentary raises the issue that the mutations to BRIP1, RAD51C, RAD51D  and BARD1 have not been well characterized and have uncertain clinical use at this time when compared to BRCA 1 & 2. 

The commentary states that investigators should look at "different paradigms for identifying key new factors and mechanisms underlying OC risk" I look forward to those studies.

Every Day is a Blessing! 

Additional Sources:
Ovarian Cancer Risk and Prevention
Lynch Syndrome
Hereditary Breast and Ovarian Cancer

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