ATM gene
Research suggests that people who carry one mutated copy of the ATM
gene in each cell may have an increased risk of developing several
other types of cancer. In particular, some studies have shown that
cancers of the breast, stomach, bladder, pancreas, lung, and ovaries
occur more frequently in ATM
mutation carriers than in people who do not carry these mutations. The
results of similar studies, however, have been conflicting. Additional
research is needed to clarify which other types of cancer, if any, are
associated with ATM mutations.
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Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene
Abstract
PURPOSE:
There
is still a considerable percentage of hereditary breast and ovarian
cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this
report, next-generation sequencing (NGS) techniques were applied to
identify novel variants and/or genes involved in HBOC susceptibility.
METHODS:
Using
whole exome sequencing, we identified a novel germline mutation in the
moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family
negative for mutations in BRCA1/2 (BRCAX). A case-control association
study was performed to establish its prevalence in Spanish population,
in a series of 1477 BRCAX families and 589 controls further screened,
and NGS panels were used for ATM mutational screening in a cohort of 392
HBOC Spanish BRCAX families and 350 patients affected with diseases not
related to breast cancer.
RESULTS:
Although
the interrogated mutation was not prevalent in case-control association
study, a comprehensive mutational analysis of the ATM gene revealed
1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in
breast cancer-only BRCAX families in Spanish population, where data
about ATM mutations were very limited.
CONCLUSION:
ATM
mutation prevalence in Spanish population highlights the importance of
considering ATM pathogenic variants linked to breast cancer
susceptibility.
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