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Detection of germline variants using expanded multigene panels in patients with localized pancreatic cancer. HPB (Oxford) 2020 Dec;22(12):1745-1752

Date

05/02/2020

Pubmed ID

32354656

DOI

10.1016/j.hpb.2020.03.022

Scopus ID

2-s2.0-85083782398

Abstract

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 S

Authors

Kathleen K. Christians MD Professor in the Surgery department at Medical College of Wisconsin
Callisia N. Clarke MD Assistant 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 Associate Professor in the Medicine department at Medical College of Wisconsin
Jennifer L. Geurts MS, CGC Director, Assistant Professor in the Institute for Health and Equity department at Medical College of Wisconsin
William Adrian Hall MD Associate Professor in the Radiation Oncology department at Medical College of Wisconsin
Abdul Haq Khan MD Associate Professor in the Medicine department at Medical College of Wisconsin
Susan Tsai MD Associate Professor in the Surgery department at Medical College of Wisconsin