Detection of germline variants using expanded multigene panels in patients with localized pancreatic cancer. HPB (Oxford) 2020 Dec;22(12):1745-1752
Date
05/02/2020Pubmed ID
32354656DOI
10.1016/j.hpb.2020.03.022Scopus ID
2-s2.0-85083782398 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
BACKGROUND: Current guidelines recommend genetic testing for all patients with pancreatic cancer (PC).
METHODS: Patients with localized PC who received neoadjuvant therapy between 2009 and 2018 were identified. Genetic consultation (including personal and family history of cancer), genetic testing, and variant data were abstracted.
RESULTS: Of 510 patients identified, 163 (32%) underwent genetic counseling and genetic testing was performed in 127 (25%). Patients who underwent genetic testing were younger (median age: 63 vs. 67, p = 0.01). Multi-gene testing was performed in 114 (90%) of 127 patients, targeted gene testing was performed in 8 (6%), and not specified in 5 (4%). Of 127 patients who underwent genetic testing, 20 (16%) had pathogenic (P)/likely pathogenic (LP) variants, observed in ATM (n = 7/105,7%), CHEK2 (n = 3/98, 3%), BRCA1 (n = 2/117, 2%), BRCA2 (n = 2/122, 2%), PALB2 (n = 1/115, 1%), MUTYH (n = 1/98, 1%), CDKN2A (n = 1/94, 1%), STK11 (n = 1/97, 1%), NBN (n = 1/98, 1%), and MSH6 (n = 1/97, 1%). Of 20 patients with either a P/LP variant, nine (45%) had a prior cancer, three (15%) had a first-degree relative with PC, and six (30%) had an any-degree relative with PC.
CONCLUSION: Pathogenic/likely pathogenic variants were identified in 16% of patients who underwent genetic testing, 60% of which occurred in the homologous recombination pathway.
Author List
Krepline AN, Geurts JL, Akinola I, Christians KK, Clarke CN, George B, Ritch PS, Khan AH, Hall WA, Erickson BA, Griffin MO, Evans DB, Tsai SAuthors
Kathleen K. Christians MD Professor in the Surgery department at Medical College of WisconsinCallisia N. Clarke MD Chief, Associate Professor in the Surgery department at Medical College of Wisconsin
Beth A. Erickson MD Professor in the Radiation Oncology department at Medical College of Wisconsin
Douglas B. Evans MD Chair, Professor in the Surgery department at Medical College of Wisconsin
Ben George MD Professor in the Medicine department at Medical College of Wisconsin
Jennifer L. Geurts MS, CGC Director, Assistant Professor in the Institute for Health and Humanity department at Medical College of Wisconsin
Michael O. Griffin MD, PhD Associate Professor in the Radiology department at Medical College of Wisconsin
William Adrian Hall MD Chair, Professor in the Radiation Oncology department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Genetic Predisposition to DiseaseGenetic Testing
Germ Cells
Germ-Line Mutation
Humans
Middle Aged
Pancreatic Neoplasms
