Evidence map›Paper›PMID 41856558›Full record

ArticleJournal of medical genetics2026

Comprehensive evidence for the pathogenicity of the

Kazuki Yamazawa, Arisa Ueki, Asami Kuga, Takao Hinoi, Hiroaki Niitsu, Mari Minatogawa, Junko Kawano, Sawako Minami, Megumi Okawa, Junko Takei and 24 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

34 authors.

Kazuki YamazawaDepartment of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan kyamazawa@ntmc-genet.jp.ORCID http://orcid.org/0000-0003-4895-2759
Arisa UekiDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Asami KugaDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Takao HinoiDepartment of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan.
Hiroaki NiitsuDepartment of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan.
Mari MinatogawaDepartment of Medical Genetics, Japanese Red Cross Ishinomaki Hospital, Ishinomaki, Japan.
Junko KawanoDepartment of Breast and Thyroid Surgical Oncology, Sagara Hospital, Kagoshima, Japan.
Sawako MinamiDepartment of Clinical Genetics, Wakayama Medical University Hospital, Wakayama, Japan.
Megumi OkawaDepartment of Breast Surgical Oncology, St Luke's International Hospital, Tokyo, Japan.
Junko TakeiDepartment of Breast Surgical Oncology, St Luke's International Hospital, Tokyo, Japan.
Makoto IchikawaCenter for Clinical Genetics and Genomic Medicine, Showa Medical University Fujigaoka Hospital, Yokohama, Japan.
Katsutoshi EnokidoDepartment of Breast Surgical Oncology, Showa Medical University Fujigaoka Hospital, Yokohama, Japan.
Noriko AkimaruDepartment of Breast Surgery, Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
Masae ToriiDepartment of Breast Surgery, Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
Shigeru TsuyukiDepartment of Breast Surgery, Osaka Red Cross Hospital, Osaka, Japan.
Chikage IguchiDepartment of Breast and Endocrine Surgery, Osaka Breast Clinic, Osaka, Japan.
Tazuko InoueDepartment of Genetic Oncology, Osaka International Cancer Institute, Osaka, Japan.
Takeshi NakajimaDepartment of Genetic Oncology, Osaka International Cancer Institute, Osaka, Japan.
Noriyuki WatanabeDepartment of Breast and Endocrine Surgery, Osaka International Cancer Institute, Osaka, Japan.
Miki TanoshimaDepartment of Clinical Genetics, Yokohama City University Medical Center, Yokohama, Japan.
Narumi Harada-ShojiDepartment of Breast and Endocrine Surgery, Tohoku University School of Medicine, Sendai, Japan.
Kanae TarunoDivision of Breast Surgical Oncology, Showa Medical University School of Medicine, Tokyo, Japan.
Masami AraiDepartment of Clinical Genetics, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Fumi MurakamiDepartment of Clinical Genetics, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Masanobu OgawaEthics Support Unit/Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.
Kazuo TamuraDepartment of Medical Genetics, Kindai University Hospital, Osaka, Japan.
Kokichi SuganoDepartment of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Tokyo, Japan.
Kohji TanakayaDepartment of Surgery, NHO Iwakuni Clinical Center, Iwakuni, Japan.
Satomi InoueDepartment of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan.
Haruka MurakamiDepartment of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan.
Moeko NakashimaDepartment of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan.
Takeshi MakabeDepartment of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Akira MatsuiDepartment of Breast Surgery, NHO Tokyo Medical Center, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe

methodsWe conducted a nationwide study using the national Hereditary Breast and Ovarian Cancer registry. Pathogenicity was assessed through quantitative cosegregation analysis, a systematic review of functional and clinical evidence and evaluation of variant frequency in population databases. Evidence was integrated using the ClinGen ENIGMA

resultsWe identified 44 carriers from 35 distinct Japanese families. Quantitative cosegregation analysis yielded a combined likelihood ratio of approximately 60, satisfying the PP1_Strong criterion. This was supported by robust evidence from multiple functional studies, including Mixed-All-Nominated-in-One-BRCA, homology-directed repair and saturation genome editing assays (PS3) and a reported case of Fanconi anaemia (PM3_Moderate). This variant is rare, with an allele frequency of 6.20×10

conclusionBy integrating newly collected genetic data with functional and clinical evidence, we provide robust support for reclassifying the

Indexed as

BRCA2 ProteinBreast NeoplasmsGenetic Predisposition to DiseaseHereditary Breast and Ovarian Cancer SyndromeOvarian NeoplasmsAdultBRCA1 ProteinEast Asian PeopleFemaleGene FrequencyGenetic TestingHumansJapanMiddle AgedBRCA1 ProteinBRCA2 ProteinBRCA2 protein, humanGenetic Predisposition to DiseaseGenetics, MedicalGenetic TestingMutation, MissenseNeoplasms

Identifiers

PMID41856558
PMCPMC13217121

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.