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

Adult Aged Aged, 80 and over Biomarkers, Tumor / genetics British Columbia / epidemiology Carcinoma, Pancreatic Ductal / diagnosis Case-Control Studies Cost of Illness Early Detection of Cancer / methods Female Follow-Up Studies Genetic Predisposition to Disease Genetic Testing Germ-Line Mutation Humans Male Medical History Taking Middle Aged Pancreatic Neoplasms / diagnosis Prognosis Prospective Studies Retrospective Studies Risk Factors Pancreatic Neoplasms

genetic consultation hereditary cancer pancreatic ductal adenocarcinoma

Journal

Cancer medicine

ISSN: 2045-7634

Titre abrégé: Cancer Med

Pays: United States

ID NLM: 101595310

Informations de publication

Date de publication:
06 2020

Historique:

received: 04 02 2020

accepted: 17 02 2020

pubmed: 8 4 2020

medline: 14 5 2021

entrez: 8 4 2020

Statut: ppublish

Résumé

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. 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. 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 < .001). 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.

Sections du résumé

BACKGROUND

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 < .001).

CONCLUSION

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.

Identifiants

DOI: 10.1002/cam4.2973 PMID: 32255556 PMC: PMC7286471

pubmed: 32255556

doi: 10.1002/cam4.2973

pmc: PMC7286471

doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

4004-4013

Subventions

Organisme : CIHR

Pays : Canada

Informations de copyright

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