Study reveals new genetic mutation passed on by men that increases risk of ovarian cancer

US scientists believe they have uncovered a new genetic mutation women inherit from their fathers that can cause ovarian cancer.  In a study published today in PLoS Genetics, researchers describe how this mutation is passed down through the father’s X chromosome, and is entirely independent of other known mutations that increase cancer risk.

Those with a strong family history of cancer can currently be tested for BRCA gene mutations and choose to undergo risk-reducing surgery. However researchers believe that some cases of ovarian cancer unconnected to the BRCA gene may in fact be caused by this newly discovered mutation inherited from their father – and their paternal grandmother.

Researchers behind the genetic study, at Roswell Park Cancer Institute in Buffalo, New York, located the suspect gene by identifying around 3,500 grandmother and granddaughter pairs with ovarian cancer from health records, then sequencing the genes of 186 women.

Dr Kevin Eng, who led the study, says;

“Our study may explain why we find families with multiple affected daughters – because a dad's chromosomes determine the sex of his children, all of his daughters have to carry the same X chromosome genes. What we have to do next is make sure we have the right gene by sequencing more families."

Raising awareness of the BRCA gene mutation, which increases ovarian cancer risk by up to 60%, and campaigning for access to testing for those at risk, is at the heart of Ovarian Cancer Action’s cancer prevention strategy. Former Cancer Prevention Officer Jo Stanford says;

“The fact that fathers can pass ovarian cancer risk to their daughters isn’t news; we already know that BRCA1/2 and Lynch Syndrome mutations can be passed down by both men and women and  increase a person’s risk of ovarian and other cancers.

“However, this new genetic mutation can only be passed down by men through the X chromosome and may explain why, even without a BRCA gene mutation, women with sisters who have had ovarian cancer appear to be more likely to develop the disease than those whose mother has.”

Ovarian cancer is the deadliest gynaecological disease with only a 46% survival rate, largely due to the fact that symptoms can by vague and often go undetected until the disease has reached an advanced stage. It is hoped that further research to confirm the identity and function of the gene could lead to better opportunities for cancer prevention.

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