Germline Pathogenic Variants and Genetic Counseling by Ancestry in Patients With Epithelial Ovarian Cancer.


Journal

JCO precision oncology
ISSN: 2473-4284
Titre abrégé: JCO Precis Oncol
Pays: United States
ID NLM: 101705370

Informations de publication

Date de publication:
09 2023
Historique:
medline: 25 9 2023
pubmed: 22 9 2023
entrez: 22 9 2023
Statut: ppublish

Résumé

To evaluate rates of germline pathogenic/likely pathogenic variants (PVs) and genetic counseling by ancestry in patients with epithelial ovarian cancer (EOC). Patients with pathologically confirmed EOC who underwent clinical tumor-normal sequencing from January 1, 2015, to December 31, 2020, inclusive of germline analysis of ≥76 genes were included. Patients with newly identified PVs were referred for Clinical Genetics Service (CGS) counseling. Ancestry groups were defined using self-reported race/ethnicity and Ashkenazi Jewish (AJ) heritage. Genetic ancestry was inferred computationally using validated algorithms. Logistic regression models were built. Of 1,266 patients, self-reported ancestry (AJ, 17%; Asian, 10%; Black/African American, 5.4%; Hispanic, 6.2%; non-Hispanic White, 57%; other, 0.16%; unknown, 4.0%) correlated with genetic ancestry (AJ ancestry, 18%; admixed, 10%; African, 4%; East Asian [EAS], 6%; European, 56%; Native American, 0.2%; South Asian [SAS], 4%; unknown, 2%). Germline PVs were observed in 313 (25%) patients, including 195 (15%) with PVs in EOC-associated genes. Those with PVs were younger at diagnosis (59 Rates of PV, particularly in EOC-associated genes, were high regardless of ancestry, with similar rates of counseling between groups, emphasizing the importance of universal genetic testing in all patients with EOC.

Identifiants

pubmed: 37738546
doi: 10.1200/PO.23.00137
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2300137

Subventions

Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States

Auteurs

Tiffany Y Sia (TY)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.

Anna Maio (A)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Yelena M Kemel (YM)

Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY.

Kanika S Arora (KS)

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Sushmita B Gordhandas (SB)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.

Ryan M Kahn (RM)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.

Erin E Salo-Mullen (EE)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Margaret A Sheehan (MA)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Prince Rainier Tejada (PR)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Chaitanya Bandlamudi (C)

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Qin Zhou (Q)

Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.

Alexia Iasonos (A)

Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.

Rachel N Grisham (RN)

Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Roisin E O'Cearbhaill (RE)

Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

William P Tew (WP)

Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Kara Long Roche (KL)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Oliver Zivanovic (O)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Yukio Sonoda (Y)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Ginger J Gardner (GJ)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Dennis S Chi (DS)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Alicia J Latham (AJ)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Maria I Carlo (MI)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Yonina R Murciano-Goroff (YR)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Marie Will (M)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Michael F Walsh (MF)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Mark E Robson (ME)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Diana L Mandelker (DL)

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Michael F Berger (MF)

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Nadeem R Abu-Rustum (NR)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Carol L Brown (CL)

Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY.

Kenneth Offit (K)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Jada G Hamilton (JG)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Psychiatry, Weill Cornell Medical College, New York, NY.
Department of Psychiatry and Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, NY.

Carol Aghajanian (C)

Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Britta Weigelt (B)

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Zsofia K Stadler (ZK)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

Ying L Liu (YL)

Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Department of Medicine, Weill Cornell Medical College, New York, NY.

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Classifications MeSH