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Breast screening recommendation for women with cancer-causing syndrome

07 December 2015

Researchers in Manchester have found that women with an inherited genetic syndrome are at increased risk of developing breast cancer and should be considered for earlier screening.

Lynch syndrome is an inherited condition that leads to carriers having an increased lifetime risk of bowel cancer. It is caused by mutations in various genes that are responsible for repairing mistakes in DNA, known as the MMR (mismatch repair) genes.

The syndrome can also cause other tumours and previously it was unclear whether breast cancer should be included in this list. Now a study from the Manchester Centre for Genomic Medicine has explored the lifetime risk of breast cancer for confirmed MMR mutation carriers. 

Professor Gareth Evans, who led the study, said: “Our Centre works to improve diagnosis and to better understand risks for patients and families living with a range of genetic conditions. By monitoring families with known mutations, we can better assess the cancer risk for future generations.”

The team looked at 224 families who had been shown to carry a mutation in the MMR genes. They found that women with a fault in one particular gene – MLH1 – had a moderate risk of developing breast cancer, three times that of non-carriers.

“We would therefore suggest that these women are appropriately informed of their risk of breast cancer and potentially offered breast screening at a younger age than the general population,” added professor Evans. 

Notes for editors

Paper entitled “Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study” EF Harkness et al. Journal of Medical Genetics

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