Around 340,000 to 444,000 people in the UK carry one of nine pathogenic gene variants

The National Institute for Health and Care Excellence (NICE) has recommended that more people get tested for genes linked to ovarian cancer.

The new guideline aims to raise awareness and increase the availability of genetic testing, allowing people to take preventive measures, including surgery, to prevent the development of ovarian cancer.

Anyone can carry a gene linked to ovarian cancer, including women, men, transgender people, and non-binary people, which can be passed on to their children.

In the UK, around 340,000 to 440,000 people carry one of the nine pathogenic variants – BRCA1, BRCA2, MLH1, MSH2, MSH6, RAD51C, RAD51D, BRIP1 and PALB2 – that cause cancer, 3% of whom know they have a high-risk gene.

NICE has recommended that genetic services should test and assess the likelihood of people carrying the genes, including those who have had certain cancers or if a blood relative has had breast or ovarian cancer.

Around 15% of women who develop ovarian cancer have a variant in either their BRCA1 or BRCA2 gene, which are also linked to breast cancer, and could increase the risk of developing cancer by 60% and 30%.

Women, transgender men, and non-binary people between the ages of 35 and 45, depending on the type of gene found, should be offered information and support as part of the discussion about the best option for reducing their risk of developing ovarian cancer.

People from Ashkenazi and Sephardic Jewish family backgrounds have a higher risk of carrying the BRCA1 and BRCA2 genes, and those from Greenlander family backgrounds also have a higher risk of having one of the pathogenic variants.

"The risk-reducing surgery we recommend could save lives while also saving the NHS money and resources in the long run" and aims to reduce “the devastating impact ovarian cancer can have on people and their families,” said Professor Jonathan Benger, chief medical officer and interim director of the centre for guidelines.

https://www.pharmatimes.com/news/nice_recommends_more_genetic_testing_for_links_to_ovarian_cancer_1500652