Evidence map›Paper›PMID 34674729›Full record

ArticleOrphanet journal of rare diseases2021

Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.

Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki, Toshifumi Azuma

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

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

9 authors at 3 institutions in 1 country.

Shoko OnoderaDepartment of Biochemistry, Tokyo Dental College, 2-9-18, Kanda Misakichou, Chiyoda, Tokyo, 101-0061, Japan. onoderashoko@tdc.ac.jp.
Nana MoritaDepartment of Oral Medicine and Hospital Dentistry, Tokyo Dental College, 5-11-13, Sugano, Ichikawa, Chiba, 272-8513, Japan.
Yuriko NakamuraDepartment of Oral Oncology, Oral and Maxillofacial Surgery, Tokyo Dental College, 5-11-13, Sugano, Ichikawa, Chiba, 272-8513, Japan.
Shinichi TakahashiDepartment of Dermatology, Tokyo Dental College Ichikawa General Hospital, 5-11-13, Sugano, Ichikawa, Chiba, 272-8513, Japan.
Kazuhiko HashimotoDivision of Surgical Pathology, Clinical Laboratory, Tokyo Dental College Ichikawa General Hospital, 5-11-13, Sugano, Ichikawa, Chiba, 272-8513, Japan.
Takeshi NomuraDepartment of Oral Oncology, Oral and Maxillofacial Surgery, Tokyo Dental College, 5-11-13, Sugano, Ichikawa, Chiba, 272-8513, Japan.
Akira KatakuraDepartment of Oral and Maxillofacial Surgery, Tokyo Dental College, 2-9-18, Kanda Misakichou, Chiyoda, Tokyo, 101-0061, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, 2-15-45, Mita, Minatoku, Tokyo, 108-8345, Japan.
Toshifumi AzumaDepartment of Biochemistry, Tokyo Dental College, 2-9-18, Kanda Misakichou, Chiyoda, Tokyo, 101-0061, Japan. tazuma@tdc.ac.jp.ORCID 0000-0003-0673-3400
Tokyo Dental College · JPTokyo Dental College Ichikawa General Hospital · JPKeio University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBasal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis.

methodsNext-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day.

resultsOverall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling.

conclusionThe development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

Indexed as

Basal Cell CarcinomaBasal Cell Nevus SyndromeSkin NeoplasmsAdaptor Proteins, Signal TransducingCytoskeletal ProteinsHedgehog ProteinsHumansMiddle AgedPatched-1 ReceptorAdaptor Proteins, Signal TransducingCytoskeletal ProteinsHedgehog ProteinsIFT172 protein, humanKIFAP3 protein, humanPatched-1 ReceptorBasal cell carcinomaExome sequenceGene mutationGorlin syndromeHedgehog signalingNevoid basal cell carcinomaOdontogenic keratocyst

Identifiers

PMID34674729
PMCPMC8529737
OpenAlexW3205531535

What OpenQuestion holds

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LicenceCC BY
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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.