Breast cancer mutation ‘discovered’

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An international team has found mutations that affect the function of the ATM gene, without destroying the protein, confer the highest risk of breast cancer in women, the latest edition of the ‘American Journal of Human Genetics’ reported.

In their study, the scientists examined the ATM gene of 2,500 breast cancer cases with 2,200 healthy control women and found that it raises the risk.

The study analysed the evolutionary history of ATM by comparing the gene in various vertebrate and invertebrate species to determine which components were crucial to ATM protein function.

The scientists found that classes of substitutions in the DNA sequence of the ATM protein that alter amino acids (known as missense mutations) have a greater association with breast cancer than expected.

Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk.

“The methods developed during this study may provide an important tool for helping us to understand significance of these missense variants in genes and their impact on a range of diseases.

“Results from this study could expand the scope of genetic counseling which currently focuses on mutations that truncate and destroy the protein.

“More broadly, the methods developed during this study may provide an important tool for the analysis of whole genome sequencing data aimed at uncovering genes for other genetic diseases,” team member Prof Georgia Chenevix-Trench of the Queensland Institute of Medical Research said.

Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk.

“The methods developed during this study may provide an important tool for helping us to understand significance of these missense variants in genes and their impact on a range of diseases.

“Results from this study could expand the scope of genetic counseling which currently focuses on mutations that truncate and destroy the protein.

“More broadly, the methods developed during this study may provide an important tool for the analysis of whole genome sequencing data aimed at uncovering genes for other genetic diseases,” team member Prof Georgia Chenevix-Trench of the Queensland Institute of Medical Research said.

Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk.

“The methods developed during this study may provide an important tool for helping us to understand significance of these missense variants in genes and their impact on a range of diseases.

“Results from this study could expand the scope of genetic counseling which currently focuses on mutations that truncate and destroy the protein.

“More broadly, the methods developed during this study may provide an important tool for the analysis of whole genome sequencing data aimed at uncovering genes for other genetic diseases,” team member Prof Georgia Chenevix-Trench of the Queensland Institute of Medical Research said.

Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk.

“The methods developed during this study may provide an important tool for helping us to understand significance of these missense variants in genes and their impact on a range of diseases.

“Results from this study could expand the scope of genetic counseling which currently focuses on mutations that truncate and destroy the protein.

“More broadly, the methods developed during this study may provide an important tool for the analysis of whole genome sequencing data aimed at uncovering genes for other genetic diseases,” team member Prof Georgia Chenevix-Trench of the Queensland Institute of Medical Research said.

Added team leader Dr Tavtigian of International Agency for Research on Cancer: “It is sometimes said that ‘nothing in biology makes sense except in the light of evolution’. This is an instance where taking an evolutionary biology perspective has helped to solve a long-standing controversy in clinical cancer.

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