Loss-of-Function Variants Associated with Gastric Cancer Risk

the Cancer Therapy Advisor take:

Loss-of-function mutations in ATM were associated with an increased risk for developing gastric cancer, according to an article published online in the journal Nature Genetics.

A Genome-wide association study (GWAS) in a European population with information on 2,500 cases of gastric cancer and 205,652 controls was reported. 

The authors found a new association between gastric cancer and the loss-of-function mutations in ATM gene test, P = 8.0 × 10−12; OR = 4.74).    Patients carrying the loss-of-function mutations were diagnosed with cancer significantly earlier in age than those not carrying the variations.

Furthermore, a combination of the loss-of-function mutations p.Gln852, p.Ser644, and p.Tyr103 (combined minor allele frequency (MAF) = 0.3%) were linked with pancreatic (OR = 3.81) and prostate (OR = 2.18) cancer and indicated a risk of breast (OR = 1.82) and colorectal (OR = 1.97) cancer.

Results confirmed a relationship between the three loci associated with gastric cancer in Asia (MUC1, PRKAA1 and PSCA) and gastric cancer in Europeans.