Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

Autor: Peter T Kim, Quan Hong, Lim Howard John, Anna Mackenzie, Carol Cremin, Katherine Dixon, Cynthia L. Neben, Mary McCullum, Sophie Sun, Will Stedden, Kasmintan A. Schrader, Steve E. Kalloger, Eric C S Lam, David F. Schaeffer, Alicia Y. Zhou, Michael K.C. Lee, Joanna M. Karasinska, Carolyn Hoeschen, Jennifer Nuk, D.J. Renouf, Charles H. Scudamore, Fergal Donnellan
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Cancer Research
Germline
0302 clinical medicine
Cost of Illness
Risk Factors
Cancer screening
Medicine
Prospective Studies
Family history
Medical History Taking
Early Detection of Cancer
Original Research
Aged
80 and over
education.field_of_study
medicine.diagnostic_test
Middle Aged
Prognosis
genetic consultation
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
3. Good health
hereditary cancer
Oncology
030220 oncology & carcinogenesis
Cohort
Female
Cancer Prevention
Carcinoma
Pancreatic Ductal
Adult
medicine.medical_specialty
Genetic counseling
Population
pancreatic ductal adenocarcinoma
lcsh:RC254-282
03 medical and health sciences
Internal medicine
Biomarkers
Tumor
Humans
Cancer Family
Genetic Predisposition to Disease
Radiology
Nuclear Medicine and imaging
Genetic Testing
education
Germ-Line Mutation
Aged
Retrospective Studies
Genetic testing
British Columbia
business.industry
Pancreatic Neoplasms
030104 developmental biology
Case-Control Studies
business
Follow-Up Studies
Zdroj: Cancer Medicine, Vol 9, Iss 11, Pp 4004-4013 (2020)
Cancer Medicine
ISSN: 2045-7634
Popis: Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC. A secondary aim was to compare genetic testing uptake rates across different modes of genetic counselling. Patients and Methods All patients diagnosed with PDAC in the province of British Columbia, Canada referred to a population‐based hereditary cancer program were eligible for multi‐gene panel testing, irrespective of cancer family history. Any healthcare provider or patients themselves could refer. Results A total of 305 patients with PDAC were referred between July 2016 and January 2019. Two hundred thirty‐five patients attended a consultation and 177 completed index germline genetic testing. 25/177 (14.1%) of unrelated patients had a pathogenic variant (PV); 19/25 PV were in known PDAC susceptibility genes with cancer screening or risk‐reduction implications. PDAC was significantly associated with PV in ATM (OR, 7.73; 95% CI, 3.10 to 19.33, P = 6.14E‐05) when comparing age and gender and ethnicity‐matched controls tested on the same platform. The overall uptake rate for index testing was 59.2% and was significantly higher with 1‐on‐1 consultations and group consultations compared to telehealth consultations (88.9% vs 82.9% vs 61.8%, P
In a prospective clinic‐based cohort of patients with PDAC referred for testing irrespective of family history, germline PV were detected in 14.1%. PV in ATM accounted for half of all PVs and were significantly associated with PDAC. These findings support recent guidelines and will guide future service planning in this population.
Databáze: OpenAIRE
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