Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Infante, Mar; Arranz-Ledo, Mónica; Lastra, Enrique; Olaverri, Amaya; Ferreira, Raquel; Orozco, Marta; Hernández, Lara; Martínez, Noemí; Durán, Mercedes

doi:10.1016/j.cca.2023.117695

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2024

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Cited by 2 publications

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Stratagems for Breast Cancer Management in the Era of Nanotheranostics

Goel,

Arora,

Riya

et al. 2024

Nanotheranostics for Diagnosis and Therapy

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Stratagems for Breast Cancer Management in the Era of Nanotheranostics

Goel,

Arora,

Riya

et al. 2024

Nanotheranostics for Diagnosis and Therapy

View full text Add to dashboard Cite

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

Villacis,

Côrtes,

Basso

et al. 2024

IJMS

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A hereditary component of breast (BC) and colorectal cancer (CRC) has been described in approximately one-third of these tumor types. BC patients have an increased risk of developing CRC as a second primary tumor and vice versa. Germline genomic variants (NextSeq550, Illumina) were investigated in 24 unrelated BC and/or CRC patients and 7 relatives from 3 index patients. Fifty-six pathogenic or likely pathogenic variants were identified in 19 of 24 patients. We detected single-nucleotide variants (SNVs) in CRC predisposition genes (MLH1 and MUTYH) and other promising candidates (CDK5RAP3, MAD1L1, NOS3, and POLM). Eighteen patients presented SNVs or copy number variants (CNVs) in DNA damage repair genes. We also identified SNVs recently associated with BC or CRC predisposition (PABPC1, TYRO3, MAP3K1, SLC15A4, and LAMA1). The PABPC1c.1255C>T variant was detected in nine unrelated patients. Each patient presented at least one SNV/CNV in a candidate gene, and most had alterations in more than one gene, reinforcing a polygenic model for BC/CRC predisposition. A significant fraction of BC/CRC patients with a family history of these tumors harbored deleterious germline variants in DNA repair genes. Our findings can lead to strategies to improve the diagnosis, genetic counseling, and treatment of patients and their relatives.

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Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Cited by 2 publications

References 32 publications

Stratagems for Breast Cancer Management in the Era of Nanotheranostics

Stratagems for Breast Cancer Management in the Era of Nanotheranostics

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

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