Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study.


Journal

Cancer prevention research (Philadelphia, Pa.)
ISSN: 1940-6215
Titre abrégé: Cancer Prev Res (Phila)
Pays: United States
ID NLM: 101479409

Informations de publication

Date de publication:
02 2022
Historique:
received: 01 05 2021
revised: 19 06 2021
accepted: 01 11 2021
pubmed: 17 11 2021
medline: 5 4 2022
entrez: 16 11 2021
Statut: ppublish

Résumé

Data from germline testing in unselected patients with hepatobiliary cancers are limited. Identification of germline predisposition can have important implications on cancer treatment and family counseling. To determine prevalence of pathogenic germline variants (PGV) in patients with hepatobiliary cancer, we undertook a prospective multi-site study of germline sequencing using a >80-gene next-generation sequencing platform among patients with hepatobiliary cancers receiving care at Mayo Clinic Cancer Centers between April 1, 2018 and March 31, 2020. Patients were not selected on the basis of stage, family cancer history, ethnicity, or age. Family cascade testing was offered at no cost. Of 205 patients, the median age was 65 years, 58.5% were male, 81% were White, and 64.4% had cholangiocarcinoma, 21.5% hepatocellular carcinoma, 7.8% gallbladder cancer, and 4.3% carcinoma of ampulla of Vater. PGV were found in 15.6% (

Identifiants

pubmed: 34782326
pii: 1940-6207.CAPR-21-0189
doi: 10.1158/1940-6207.CAPR-21-0189
pmc: PMC9662853
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

121-128

Informations de copyright

©2021 The Authors; Published by the American Association for Cancer Research.

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Auteurs

Pedro Ls Uson Junior (PL)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Katie L Kunze (KL)

Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Phoenix, Arizona.

Michael A Golafshar (MA)

Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Phoenix, Arizona.

Douglas Riegert-Johnson (D)

Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Jacksonville, Florida.
Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.
Center for Individualized Medicine, Mayo Clinic, Phoenix, Arizona.

Lisa Boardman (L)

Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

Mitesh J Borad (MJ)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Daniel Ahn (D)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Mohamad B Sonbol (MB)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Douglas O Faigel (DO)

Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Norio Fukami (N)

Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Rahul Pannala (R)

Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Kathleen Barrus (K)

Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.

Luke Mountjoy (L)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

Edward D Esplin (ED)

Invitae, San Francisco, California.

Robert L Nussbaum (RL)

Invitae, San Francisco, California.

A Keith Stewart (AK)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.
Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.
Center for Individualized Medicine, Mayo Clinic, Phoenix, Arizona.

Tanios Bekaii-Saab (T)

Division of Hematology and Medical Oncology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

N Jewel Samadder (NJ)

Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona. samadder.jewel@mayo.edu.
Center for Individualized Medicine, Mayo Clinic, Phoenix, Arizona.
Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Phoenix, Arizona.

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