Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

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Results

Sample Selection and Sequencing

A total of 638 patients with FPC (Table 1) were selected from 10 registries across North America.....

 Recent advances in sequencing technology provide an unbiased way to search for the genes underlying disease susceptibility (8). Using this approach, PALB2 and ATM were identified as FPC susceptibility genes, together explaining 3% to 5% of FPC cases (8, 9). In a further 8% to 15% of patients with FPC, the increased risk of pancreatic cancer can be attributed to 10 other previously reported FPC susceptibility genes, including BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PMS2, PRSS1, STK11, and TP53 (10–16). The genetic basis underlying disease susceptibility in the remaining 80% to 90% of patients with FPC is unknown.