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Offering a 76-gene inherited-risk test to 615 consecutive pancreatic tumour patients at Memorial Sloan Kettering found a pathogenic variant in one in five, more than 40% of whom would not have qualified for testing under the guidelines of the time.
615 unselected patients with exocrine pancreatic neoplasms consented to somatic tumour and matched normal profiling of 410 to 468 genes; germline testing of 76 susceptibility genes was performed in an identified manner in 356 and anonymised in 259. Pathogenic germline alterations were present in 122 (19.8%) across 24 genes including BRCA1/2, ATM, PALB2 and other DNA damage response genes; 41.8% did not meet then-current testing guidelines. Median overall survival did not differ by germline status (50.8 months carriers). Loss of heterozygosity was found in 60.0% of BRCA1/2 tumours. The alterations were judged therapeutically actionable in about 5 to 10% of patients.
The broad-panel figure: one patient in five carries something inheritable, and about one in fifteen carries something treatable.
Shares ATM, PALB2, Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA).
Shares ATM, PALB2, Germline BRCA1/2 pathogenic variant (gBRCAm), BRCA or PALB2-mutant pancreatic ductal adenocarcinoma.
Shares Variant of uncertain significance (VUS), JNCI: Journal of the National Cancer Institute, PALB2, Germline BRCA mutation (gBRCA).
Shares ATM, PALB2, Eileen M. O'Reilly, Germline BRCA1/2 pathogenic variant (gBRCAm).
Shares Variant of uncertain significance (VUS), Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD).
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA or PALB2-mutant pancreatic ductal adenocarcinoma, BRCA1 / BRCA2 (HRD).