Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors

Andrew Groves; Abigail Ward; Yvonne Y. Li; Lorena Lazo de la Vega; Anwesha Nag; Suzanne J. Forrest; Hersh V. Gupta; Aaron R. Thorner; Matthew Meyerson; Junne Kamihara; Andrew D. Cherniack; Katherine A. Janeway

doi:10.1002/pbc.30643

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Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors

Journal article

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Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors

Andrew Groves, Abigail Ward, Yvonne Y. Li, Lorena Lazo de la Vega, Anwesha Nag, Suzanne J. Forrest, Hersh V. Gupta, Aaron R. Thorner, Matthew Meyerson, Junne Kamihara, …

Pediatric blood & cancer, Vol.70(11), e30643

11/2023

DOI: 10.1002/pbc.30643

PMCID: PMC10883645

PMID: 37596911

Appears in UI Libraries Support Open Access

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Abstract

Abstract Utilization of tumor‐only sequencing has expanded in pediatric cancer patients, which can lead to identification of pathogenic variants in genes that may be germline and/or have uncertain relevance to the tumor in question, such as the homologous recombination (HR) pathway genes BRCA1/2. We identified patients with pathogenic BRCA1/2 mutations from somatic tumor sequencing, and performed additional germline sequencing to assess for the presence of loss of heterozygosity (LOH). Of seven patients identified, four (57.1%) mutations were found in the germline and none had associated LOH. Our data suggest that BRCA1/2 mutations identified in this context are likely incidental findings.

Genomics

BRCA

cancer

homologous recombination

pediatric oncology

UIOWA OA Agreement

Details

Title: Subtitle: Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors
Creators: Andrew Groves - University of Iowa Stead Family Children’s Hospital
Abigail Ward - Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Yvonne Y. Li - Dana-Farber Brigham Cancer Center
Lorena Lazo de la Vega - Harvard Medical School
Anwesha Nag - Dana-Farber Brigham Cancer Center
Suzanne J. Forrest - Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Hersh V. Gupta - Broad Institute
Aaron R. Thorner - Dana-Farber Cancer Institute
Matthew Meyerson - Broad Institute
Junne Kamihara - Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Andrew D. Cherniack - Dana-Farber Brigham Cancer Center
Katherine A. Janeway - Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Resource Type: Journal article
Publication Details: Pediatric blood & cancer, Vol.70(11), e30643
DOI: 10.1002/pbc.30643
PMID: 37596911
PMCID: PMC10883645
NLM abbreviation: Pediatr Blood Cancer
ISSN: 1545-5009
eISSN: 1545-5017
Publisher: Wiley
Language: English
Electronic publication date: 08/19/2023
Date published: 11/2023
Academic Unit: Stead Family Department of Pediatrics; Hematology/Oncology
Record Identifier: 9984459413102771

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