Evidence map›Paper›PMID 36219266›Full record

ArticleSurgical case reports2022

A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.

Masaya Kai, Makoto Kubo, Sawako Shikada, Saori Hayashi, Takafumi Morisaki, Mai Yamada, Yuka Takao, Akiko Shimazaki, Yurina Harada, Kazuhisa Kaneshiro and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Surgical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 52% of its field
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 citations in OpenAlex.

  1. Article
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

13 authors at 2 institutions in 1 country.

Masaya Kai *Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Makoto Kubo *Department of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. kubo.makoto.804@m.kyushu-u.ac.jp.
Sawako ShikadaDepartment of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan.
Saori HayashiDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Takafumi MorisakiDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Mai YamadaDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Yuka TakaoDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Akiko ShimazakiDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Yurina HaradaDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Kazuhisa KaneshiroDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Yusuke MizuuchiDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Koji ShindoDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Masafumi NakamuraDepartment of Surgery and Oncology, Graduate of School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Kyushu University · JPKyushu University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

TP53 is a tumor suppressor gene and, when dysfunctional, it is known to be involved in the development of cancers. Li-Fraumeni syndrome (LFS) is a hereditary tumor with autosomal dominant inheritance that develops in people with germline pathogenic variants of TP53. LFS frequently develops in parallel to tumors, including breast cancer. We describe a novel germline mutation in TP53 identified by performing a multi-gene panel assay in a breast cancer patient with bilateral breast cancer.

Indexed as

Breast cancerGenetic medicineGenetic testingHereditary cancerLi–Fraumeni syndromeMulti-gene panel assayTP53 pathogenic variant

Identifiers

PMID36219266
PMCPMC9554102
OpenAlexW4304185275

What OpenQuestion holds

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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.