Evidence map›Paper›PMID 39831988›Full record

ArticleSurgery today2025

Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.

Yusa Togashi, Masayuki Nagahashi, Mina Kashima, Chiho Okada, Chinatsu Kinjo, Ayako Miyazaki, Mako Ueda, Hiroshi Tsubamoto, Hideaki Sawai, Yasuo Miyoshi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Surgery today, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Yusa TogashiDepartment of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Masayuki NagahashiDepartment of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan. ma-nagahashi@hyo-med.ac.jp.
Mina KashimaDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Chiho OkadaDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Chinatsu KinjoDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Ayako MiyazakiDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Mako UedaDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Hiroshi TsubamotoDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Hideaki SawaiDepartment of Clinical Genetics, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Yasuo MiyoshiDepartment of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.

Funding

Japan Society for the Promotion of Science 21K19522Japan Society for the Promotion of Science 22H03140Japan Society for the Promotion of Science 22K08764
6 · The paper itself

Abstract

purposeTo clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.

methodsThis was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.

resultsWe identified 36 women who underwent multigene panel testing: 8 (22.2%) had a pathogenic variant, with or without other variants of uncertain significance (VUSs); 15 (41.7%) had VUSs only; and 13 (36.1%) had negative genetic test results. Of the eight pathogenic variants, five were BRCA2 variants and one each were BRCA1, MLH1, and RINT1 variants. The VUSs included BRCA1 and BRCA2, as well as other breast cancer-associated genes, such as ATM, CDH1, CHEK2, and PALB2. Referring to the latest ClinVar database, one of the variants identified as a VUS at diagnosis was re-determined as likely pathogenic, and three of the variants identified as VUSs at diagnosis were re-determined as benign.

conclusionVUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationAdultAgedAntigens, CDBRCA1 ProteinBRCA2 ProteinCadherinsCheckpoint Kinase 2Fanconi Anemia Complementation Group N ProteinFemaleHigh-Throughput Nucleotide SequencingHumansMiddle AgedAntigens, CDBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCadherinsCDH1 protein, humanCheckpoint Kinase 2CHEK2 protein, humanFanconi Anemia Complementation Group N ProteinMLH1 protein, humanMutL Protein Homolog 1PALB2 protein, humanHereditary breast cancerJapaneseMultigene panel testingNext-generation sequencingVariant of uncertain significance

Identifiers

PMID39831988
PMCPMC12339588

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