Genetic Testing and the BRCA 1 and BRCA 2 Gene mutation

NHS / NICE guidelines have now changed in relation to genetic counselling and testing for the BRCA gene mutation.

The Royal Marsden with Cancer Research and MacMillan have just published a paper http://www.royalmarsden.nhs.uk/SiteCollectionDocuments/patient-information/brca.pdf that gives all the details about Famility History and the link between Breast and other cancers , including prostate.

What is does say which is key for me " When thinking about who is at risk of having the mutation in the
family it does not matter if you are a man or a woman. Both men and women have BRCA1 and BRCA2 genes and men can also carry a faulty BRCA1/2 gene. The risk of developing cancer for men is not as great as it is for women but they can still pass the faulty BRCA gene on to their offspring." That to me is the crux as my daughter and son and their children , when they have them, could be at risk.

Having a daughter, two surviving sisters and multiple nieces and being the current only living relative who has had cancer, there is a real family interest in determining if I carry this inherited mutation as this might well impact those family members. If I have the gene then my sisters might also have it and then it may be passed down to their children as well as my own. As the above study states "Women in the UK have a 1 in 8 or 12.5% chance, on average, of developing breast cancer in their lifetime. Women with one or
two close relatives affected with breast cancer have a lifetime risk of 17-30%, depending on the specific family history. Women who have a BRCA1 gene mutation have a 60-90% lifetime risk
and women who have a BRCA2 gene mutation have a 45-85% lifetime risk. Women with BRCA mutations have an increased risk of developing breast cancer at a younger age. Also, BRCA mutation carriers who have had breast cancer have a higher risk of developing another new breast cancer, compared to women who develop sporadic breast cancer in the general population."

But its not just about women, this gene can be passed to the male side and as such will increase the risk of cancers such as Prostate at an early stage. Papers are now saying that men with the BRCA 2 mutation who develop what would be considered low risk prostate cancer for those without the gene are more likely to get advanced aggressive prostate cancer and as such should have immediate treatment rather than surveillance if cancer found.

This all adds weight to to getting checked to see if I have the gene problem so that my own children and those of my sisters can be aware if there is a problem and get checked early. For example, my son to be screened from 40 yrs and my daughter from 30yrs.

To get the genetic referral on the NHS you have to have a family history of cancers. Research this week established:

Mothers side:

Grandmother had breast cancer
Mother had Breast Cancer
Sister had breast cancer ( early onset, primary and secondaries, bilateral and died at 49 yrs )
An Uncle(Mothers brother) had Bowel Cancer
An Uncle(Mothers brother) had esophagus cancer
Grandfather , unsure what cancer he had - still investigating
An Uncle(Mothers brother) had lung cancer

Fathers side:

Father had Prostate Cancer (advanced, through bones etc.)
Grandmother had Breast Cancer

Based on the above, my GP has got me to complete the Family History forms and these have been sent to the NHS referral centre. Will wait and see if I get an appointment.