Evidence map›Paper›PMID 39003386›Full record

ArticleBreast cancer (Tokyo, Japan)2024

High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.

Reiko Yoshida, Tomoko Kaneyasu, Arisa Ueki, Hideko Yamauchi, Shozo Ohsumi, Shinji Ohno, Daisuke Aoki, Shinichi Baba, Junko Kawano, Naomichi Matsumoto and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

26 authors.

Reiko Yoshida *Division of Cancer Genomics, Cancer Institute, Japanese Foundation for Cancer Research (JFCR), 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Tomoko Kaneyasu *Project for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, 135-8550, Japan.
Arisa UekiDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, JFCR, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Hideko YamauchiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku, Tokyo, Japan.
Shozo OhsumiNational Hospital Organization Shikoku Cancer Center, 160 Kou, Minamiumemoto-machi, Matsuyama, Ehime, Japan.
Shinji OhnoBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Daisuke AokiDepartment of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinano-machi, Shinjuku-ku, Tokyo, Japan.
Shinichi BabaSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Junko KawanoSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, Japan.
Masao NagasakiDepartment of Biomedical Information Analysis, Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, 53 Shogoinkawahara-cho, Sakyo-ku, Kyoto, Japan.
Takayuki UenoBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Hitoshi InariBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Yusuke KobayashiDepartment of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinano-machi, Shinjuku-ku, Tokyo, Japan.
Junko TakeiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku, Tokyo, Japan.
Osamu GotohProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, 135-8550, Japan.
Mitsuyo NishiSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Miki OkamuraNational Hospital Organization Shikoku Cancer Center, 160 Kou, Minamiumemoto-machi, Matsuyama, Ehime, Japan.
Keika KanekoDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, JFCR, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Megumi OkawaDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku, Tokyo, Japan.
Misato SuzukiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku, Tokyo, Japan.
Sayuri AminoProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, 135-8550, Japan.
Mayuko InuzukaDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.
Tetsuo NodaCancer Institute, JFCR, 3-8-31 Ariake, Koto-ku, Tokyo, Japan.
Seiichi Mori *Project for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, 135-8550, Japan. seiichi.mori@jfcr.or.jp.ORCID http://orcid.org/0000-0001-8569-4504
Seigo Nakamura *Division of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.

Funding

Japan Agency for Medical Research and Development JP16cm0106503Japan Agency for Medical Research and Development JP17cm0106503Japan Agency for Medical Research and Development JP18cm0106503Japan Agency for Medical Research and Development JP19cm0106503Japan Agency for Medical Research and Development JP20cm0106503Japan Agency for Medical Research and Development JP21cm0106503
6 · The paper itself

Abstract

backgroundTailored, preventive cancer care requires the identification of pathogenic germline variants (PGVs) among potentially at-risk blood relatives (BRs). Cascade testing is carried out for BRs of probands who are positive for PGVs of an inherited cancer but not for negative probands. This study was conducted to examine the prevalence of PGVs for BRs of PGV-negative probands.

methodsPGV prevalence was assessed for 682 BRs of 281 probands with BRCA1/BRCA2 wild-type hereditary breast and ovarian cancer (HBOC) syndrome.

resultsPGVs were discovered in 22 (45.8%) of the 48 BRs of the PGV-positive probands and in 14 (2.2%) of 634 BRs of the PGV-negative probands. Eleven PGVs on high-risk BRCA1, BRCA2, and TP53 genes were present only in BRs and not in the probands (probands vs BRs in Fisher exact test; p = 0.0104; odds ratio [OR] = 0.000 [0.000-0.5489 of 95% confidence interval]), partly due to the nature of the selection criteria. The enrichment of high-risk PGVs among BRs was also significant as compared with a non-cancer East Asian population (p = 0.0016; OR = 3.0791 [1.5521-5.6694]). PGV prevalence, risk class of gene, and genotype concordance were unaffected by the cancer history among BRs.

conclusionThese findings imply the necessity to construct a novel testing scheme to complement cascade testing.

Indexed as

BRCA1 ProteinBRCA2 ProteinGenetic Predisposition to DiseaseGerm-Line MutationHereditary Breast and Ovarian Cancer SyndromeAdultAgedBreast NeoplasmsFamilyFemaleGenetic TestingHumansMaleMiddle AgedPedigreeTumor Suppressor Protein p53BRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanTP53 protein, humanTumor Suppressor Protein p53Blood relative analysisCascade testingGenetic testingHereditary breast and ovarian cancer syndromePathogenic germline variant

Identifiers

PMID39003386
PMCPMC11489291

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.