Evidence map›Paper›PMID 33260537›Full record

ArticleCancers2020

Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.

Pi-Yueh Chang, Shih-Cheng Chang, Mei-Chia Wang, Jinn-Shiun Chen, Wen-Sy Tsai, Jeng-Fu You, Chia-Chun Chen, Hsiu-Ling Liu, Jy-Ming Chiang

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023
    Guideline
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
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 2 institutions in 1 country.

Pi-Yueh ChangDepartment of Laboratory Medicine, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Shih-Cheng ChangDepartment of Laboratory Medicine, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Mei-Chia WangDepartment of Laboratory Medicine, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Jinn-Shiun ChenDepartment of Colorectal Surgery, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Wen-Sy TsaiDepartment of Colorectal Surgery, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Jeng-Fu YouDepartment of Colorectal Surgery, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Chia-Chun ChenMolecular Medicine Research Center, Chang Gung University, No. 259, Wenhua 1st Rd., Kweishan, Taoyuan 33302, Taiwan.
Hsiu-Ling LiuDepartment of Laboratory Medicine, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Jy-Ming ChiangDepartment of Colorectal Surgery, Chang Gung Memorial Hospital, No. 5 Fu-Shing St. Kweishan, Taoyuan 33305, Taiwan.
Chang Gung Memorial Hospital · TWChang Gung University · TW

Funding

Chang Gung Memorial Hospital, Linkou CMRPG3J0381Chang Gung Memorial Hospital, Linkou CMRPG3J0382Ministry of Health and Welfare MOHW107-TDU-B-212-114023
6 · The paper itself

Abstract

Given recent increases in the proportion of early-onset colorectal cancer (CRC), researchers are urgently working to establish a multi-gene screening test for both inherited and sporadic cancer-susceptible individuals. However, the incidence and spectrum of germline mutations in young sporadic CRC patients in East Asian countries and, especially, in sporadic polyp carriers and normal individuals are unknown. Peripheral blood samples were collected from 43 colonoscopy-proved normal controls and from 50 polyp patients and 49 CRC patients with no self-reported family history of cancer. All participants were under 50 years old. Next-generation sequencing with a panel of 30 CRC-associated susceptibility genes was employed to detect pathogenic germline mutations. The germline mutation carrier rates were 2.3%, 4.0%, and 12.2% in the normal, polyp, and cancer groups, respectively. A total of seven different mutations in six DNA repair pathway-related genes (

Indexed as

cancer susceptibility genecolorectal cancerearly onsetgermline mutationnormal controlpolyp

Identifiers

PMID33260537
PMCPMC7761471
OpenAlexW3107970926

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.