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Gene mutation triples risk of breast cancer

Studies have found that women who have a rare genetic mutation have a one in three chance of developing breast cancer by the age of 70.

The research, conducted at the University of Cambridge, has also led to the suggestion that in the future, women with a family history or genetic link to breast cancer could be tested specifically for the gene because they are likely to benefit from screening. If they do develop the cancer, different drugs which harness the use of genes could be used to treat the disease instead of more generic medicines.

The ‘breast cancer genes’, BRCA1 and BRCA2 are something of a phenomena after being reported multiple times throughout the worldwide media after being discovered in 1990. PALB2 is thought to be the next newly-discovered gene which links specifically to certain breast cancers. Although only 0.2 per cent of the population are thought to be carrying this gene (PALB2), the gene itself has been found to triple the risk of developing breast cancer within those who have it.

PALB2 is thought to work in a similar way to the other two genes by reducing the cells ability to repair themselves after damage is incurred to the DNA. This means that cell mutations can happen slowly but gradually and with ease, encouraging the development of cancer.

Dr Marc Tischkowitz, head researcher of the study which discovered the faulty gene, said “Now that we have identified this gene, we are in a position to provide genetic counselling and advice. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening. If you have hereditary breast cancer that isn’t explained by the presence of either BRCA1 or BRCA2, then this gene could be responsible.”

The study looked at data across a spread of 154 families, including 362 family members with the PALB2 gene mutation. Women in the study who carried the rare genetic make-up were found to have on average, a 35% chance of developing breast cancer by the age of 70 – over three times the normal risk.

However, the ‘triple-risk’ increases further for individuals who have several family members who have already suffered from the disease, the study also found. Additionally, the study’s results showed that younger women with a genetic risk of breast cancer were at a greater risk of the disease developing. Scientists have not yet discovered the cause of this, but it is possible that having fewer children at a later age could play a part as well as better surveillance in later years leading to earlier diagnosis of the cancer.

Due to the genetic similarities to the BRCA1 and BRCA2 mutations, scientists and healthcare experts are hoping that patients with the PALB2 make-up could benefit from similar gene-targeted treatments. A new class of medicines known as PARP inhibitors are showing promising clinical trial results within women with the breast cancer gene.

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