Identification of these new genes will contribute to the understanding of the genetic risk of breast cancer and help improve risk prediction.
Scientists
have found at least four new genes associated with breast cancer that may help
identify women at increased risk of the disease.
The
finding, published recently in the journal Nature Genetics, also provides
crucial information on the biological mechanisms underlying cancer development,
potentially opening the way to identifying new treatments.
The
international team, led by researchers at the University of Cambridge in the UK
and Universite Laval, Canada, noted that current genetic tests for breast
cancer only consider a few genes, such as BRCA1, BRCA2, and PALB2.
However,
these only explain a minority of the genetic risk, suggesting that more genes
remain to be identified, they said.
The
latest study looked at genetic changes in all genes in 26,000 women with breast
cancer and 217,000 (2.17 lakh) women without breast cancer, from eight
countries in Europe and Asia.
"To
our knowledge, this is the largest study of its kind," said Professor
Douglas Easton, from the University of Cambridge, who co-led the study.
"It
was made possible through the use of data from multiple collaborators in many
countries, as well as publicly available data from the UK Biobank," Easton
said in a statement.
The
researchers found evidence for at least four new breast cancer risk genes, with
suggestive evidence for many others.
Identification
of these new genes will contribute to the understanding of the genetic risk of
breast cancer and help improve risk prediction by better identifying those
women at higher risk of the disease, they said.
The
findings will better inform approaches to breast screening, risk reduction and
clinical management, according to the researchers.
The aim
is to integrate this information into a comprehensive risk prediction tool
currently used worldwide by health professionals, they said.
"Improving
genetic counselling for high-risk women will promote shared decision-making
regarding risk reduction strategies, screening and determination of treatment
options," said Professor Jacques Simard of Universita Laval, co-lead of
the study.
"Although
most of the variants identified in these new genes are rare, the risks can be
significant for women who carry them. For example, alterations in one of the
new genes, MAP3K1, appear to give rise to a particularly high risk of breast
cancer,” Simard said.
Before
this information can be used in a clinical setting, scientists need to validate
the results in further datasets.
"We
need additional data to determine more precisely the risks of cancer associated
with variants in these genes, to study the characteristics of the tumours, and
to understand how these genetic effects combine with other lifestyle factors
affecting breast cancer risks," Easton added.
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