Evidence map›Paper›PMID 41624906›Full record

ReviewGenes & diseases2026

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Jiaheng Li, Bojin Zhao, Zixin Qin, Si Hoi Kou, Jia Sheng Chian, Fengxia Xiao, Huijun Lei, Stephanie Andaluz, Jun He, Siddharth Sinha and 2 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes & diseases, 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

12 authors.

Jiaheng LiSichuan Key Laboratory of Conservation Biology on Endangered Wildlife, Chengdu Research Base of Giant Panda Breeding, Chengdu, Sichuan 610081, China.
Bojin ZhaoFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Zixin QinFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Si Hoi KouFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Jia Sheng ChianFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Fengxia XiaoFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Huijun LeiFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Stephanie AndaluzFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Jun HeFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Siddharth SinhaFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.
Xiaowei MaoInstitute of Fundamental and Frontier Sciences, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, China.
San Ming WangFaculty of Health Sciences, University of Macau, Taipa, Macau SAR 999078, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DNA damage repair (DDR) genes play critical roles in maintaining genome stability. However, they are prone to genetic variation, of which pathogenic variation (PV) is a predisposing factor for high risk of cancer development in modern humans. Knowing the origin of DDR PV is critical for understanding the genetic basis and developing strategies against cancer risk for modern humans. So far, there is no consensus on the original sources of DDR PV in modern humans. We performed phylogenic analysis, and the results ruled out non-human species as the original source for the PV in modern humans through evolutionary conservation. We performed anthropological analyses by tracing the PV from modern humans in over 5000 ancient humans spanning the past 40,000 years. We observed a widespread distribution of DDR PV shared between modern and ancient humans. The shared DDR PV was predominantly found in modern non-Africans within the past 10,000 years rather than in modern Africans, highlighting that the arising time should be post the latest Out-of-Africa human migration. We also observed the rich distribution of Portuguese

Indexed as

Ancient DNAAnthropologicCancer predispositionDNA damage repair genesEvolutionary originPathogenic variationPhylogenic

Identifiers

PMID41624906
PMCPMC12859193

What Socratic 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 Socratic graph.