It’s not just the ‘Jolie’ gene that raises risk of breast cancer


It’s not just the ‘Jolie’ gene that raises risk of breast cancer: Screening women with three other DNA quirks every year from their 30th birthday could HALVE their death rates, doctors say

  • NHS advice says women with BRCA1/2 should get annual MRI scans in thirties
  • But cancer experts are now calling for a shake-up to the screening programme
  • Mutations in the ATM, CHEK2 and PALB2 genes are just as common as the genetic quirk Hollywood actress Angelina Jolie has, experts say 

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Current NHS advice states women with BRCA1/2 mutations, famously carried by Angelina Jolie, should undergo annual MRI scans in their thirties Current NHS advice states women with BRCA1/2 mutations, famously carried by Angelina Jolie, should undergo annual MRI scans in their thirties

Current NHS advice states women with BRCA1/2 mutations, famously carried by Angelina Jolie, should undergo annual MRI scans in their thirties

Women carrying genes heavily linked to breast cancer should all be screened for the disease from their 30th birthday, say doctors. 

Current NHS advice states women with BRCA1/2 mutations, famously carried by Angelina Jolie, should undergo annual MRI scans in their thirties. 

But experts are now calling for a shake-up to the screening programme, saying women with three other tell-tale genetic quirks should also be invited two decades early.

A coalition of international cancer researchers found that regular and early screening could halve breast cancer deaths among these women.

Mutations in the ATM, CHEK2 and PALB2 genes are just as common as the genetic quirk Hollywood actress Jolie has, which is carried by around one in every 500 women. 

What is the BRCA gene and how does it affect people’s risk of cancer?

Having a mutated BRCA gene – as famously carried by Angelina Jolie – dramatically increases the chance a woman will develop breast cancer in her lifetime, from 12 per cent to 90 per cent. 

Between one in 800 and one in 1,000 women carry a BRCA gene mutation, which increases the chances of breast and ovarian cancer. 

Both BRCA1 and BRCA2 are genes that produce proteins to suppress tumours. When these are mutated, DNA damage can be caused and cells are more likely to become cancerous.  

The mutations are usually inherited and increase the risk of ovarian cancer and breast cancer significantly.    

When a child has a parent who carries a mutation in one of these genes they have a 50 percent chance of inheriting the mutations.  

About 1.3 per cent of women in the general population will develop ovarian cancer, this increase to 44 percent of women who inherit a harmful BRCA1 mutation. 

The study, published in the journal JAMA Oncology, analysed detailed medical and genetic data from 32,000 breast cancer patients and a similar number without the disease. 

Researchers used a simulation model to calculate the risk of developing the disease by age.

Women with mutations to the ATM, CHEK2 and PALB2 genes had up to a 40 per cent higher risk of developing breast cancer at some point in their life. 

The team then projected that offering annual MRI scans to women carrying the DNA quirks between the ages of 30 to 35 — and then offering a mammogram every year when they hit 40 — would halve death rates. 

Dr Kathryn Lowry, lead author from the University of Washington, added: ‘Screening guidelines have been difficult to develop for these women because there have not been clinical trials to inform when to start and how to screen.’

NHS guidance says all women with the BRCA1, BRCA2 or PALB2 gene should get an MRI scan every year from their thirties.

But there is no recommendation for carriers of ATM or CHEK2. 

Current NHS rules mean all other women are offered mammograms when they turn 50, and asked to get scanned every three years until they are in their 70s. 

Guidelines in the US, however, recommend starting screening for women carrying ATM and CHEK2 at 40. 

Dr Allison Kurian, study co-author from Stanford University, said: ‘Overall what we’re proposing is slightly earlier screening than what the current guidelines suggest for some women with these variants.

‘Our results suggest that starting MRI at age 30 to 35 appears beneficial for women with any of the three variants.’ 

More than two million women in the UK undergo annual breast cancer screening and the checks are credited with saving 1,300 lives each year. 

Spotting cancer early drastically increases the chances of survival. 

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