JAMA Oncol: Individuals with ATM pathogenic variants are more than six times more likely to develop pancreatic cancer!

Pathogenic germline variants in the ATM gene are associated with the risk of pancreatic cancer

This study evaluated the age-specific penetrance of pancreatic cancer in individuals carrying pathogenic variants in the ATM gene

This is a multicenter cohort study that analyzed pedigree data from 130 pancreatic cancer families carrying pathogenic germline ATM variants

Pancreatic cancer occurrence in the test cohort

These 130 families (123 white families) consist of 2227 family members (average age 58 years, 1096 women) with complete records (family relationship, pancreatic cancer diagnosis , ATM status, proband status, and age), of which 155 There are 16 people who carry ATM pathogenic variants, 16 people do not carry ATM pathogenic variants , and other individuals have no test results

Cumulative risk of pancreatic cancer in individuals with or without ATM pathogenic variants

The average age at diagnosis is 64 years (range 31-98 years)

Original source:

Hsu F, Roberts NJ, Childs E, et al.