Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

ABSTRACT

Understanding of the etiology and risk of pancreatic cancer (PaCa) is still poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in 4 genes among PaCa patients and assesses their possible association with the risk of disease in Poland.

In the study 383 PaCa patients and 4000 control subjects were genotyped for founder mutations in: BRCA1 (5382insC, 4153delA, C61G), CHEK2 (1100delC, IVS2 + 1G>A del5395, I157T), NBS1 (657del5) and PALB2 (509_510delGA, 172_175delTTGT). A statistically significant association between the 657del5 mutation and an increased risk of pancreatic cancer was observed for NBS1. The Slavic NBS1 mutation (657delACAAA) was detected in 8 of 383 (2,09%) unselected cases compared with 22 of 4000 (0.55%) controls (OR – 3,80, p = 0,002).

The PALB2 509_510delGA and 172_175delTTGT mutations combined were seen in 2 (0,52%) unselected cases of PaCa and in 8 (0,20%) of 4000 controls (OR – 2,61, p = 0,49). For BRCA1, the three mutations combined were detected in 4 of 383 (1,04%) PaCa patients and in 17 of 4000 (0,42%) controls (OR – 2,46, p = 0,20). CHEK2 mutations were not associated with the risk of pancreatic cancer (OR – 1,11 p= 0,72). The founder mutation in NBS1 (657del5) was associated with an increased risk of PaCa in heterozygous carriers, indicating that this mutation appears to predispose to cancer of the pancreas. By identifying pancreatic cancer risk groups, founder mutation testing in Poland should be considered for people at risk for PaCa. This article is protected by copyright. All rights reserved.

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