Scientists have identified
four new genetic variants associated with an increased risk of
testicular cancer, the most commonly diagnosed type in young men.
Scientists from the Perelman School of Medicine at the University of
Pennsylvania looked at the genomes of more than 13,000 men. The
discovery of these genetic variations - chromosomal "typos," so to speak
- could ultimately help researchers better understand which men are at
high risk and allow for early detection or prevention of the disease.
"As we continue to cast a wider net, we identify additional genetic risk
factors, which point to new mechanisms for disease," said Katherine L
Nathanson, associate professor in the division of Translational Medicine
and Human Genetics within the department of Medicine. "Certain
chromosomal regions, what we call loci, are tied into testicular cancer
susceptibility, and represent a promising path to stratifying patients
into risk groups - for a disease we know is highly heritable," Nathanson
said. Tapping into three genome-wide association studies (GWAS), the
researchers analysed 931 affected individuals and 1,975 controls and
confirmed the results in an additional 3,211 men with cancer and 7,591
controls. The meta-analysis revealed that testicular germ cell tumour
(TGCT) risk was significantly associated with markers at four loci -
4q22, 7q22, 16q22.3, and 17q22, none of which have been identified in
other cancers. Additionally, these loci pose a higher risk than the
vast majority of other loci identified for some common cancers, such as
breast and prostate. Testicular cancer is relatively rare; however,
incidence rates have doubled in the past 40 years. It is also highly
heritable. If a man has a father or son with testicular cancer, he has a
four-to six-fold higher risk of developing it compared to a man with no
family history. That increases to an eight-to 10-fold higher risk if
the man has a brother with testicular cancer. "This analysis is the
first to bring several groups of data together to identify loci
associated with disease and represent the power of combining multiple
GWAS to better identify genetic risk factors that failed to reach
genome-wide significance in single studies," said Nathanson. The study
was published in journal Nature Genetics.
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