Evidence map›Paper›PMID 37804357›Full record

ArticleClinical and experimental medicine2023

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Amira Salah El-Din Youssef, Abdel Rahman N Zekri, Marwa Mohanad, Samah A Loutfy, Nasra F Abdel Fattah, Mostafa H Elberry, Asmaa A El Leithy, Ahmed El-Touny, Ahmed Samy Rabie, Mohamed Shalaby and 5 more

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In one paragraph

Article in Clinical and experimental medicine, 2023. 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
0.8field-weighted citation impact, top 26% 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, 3 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

15 authors at 3 institutions in 1 country.

Amira Salah El-Din YoussefVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt. Amira.salah@nci.cu.edu.eg.
Abdel Rahman N ZekriVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Marwa MohanadDepartment of Biochemistry, College of Pharmaceutical Sciences and Drug Manufacturing, Misr University for Science and Technology, Giza, Egypt.
Samah A LoutfyVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Nasra F Abdel FattahVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Mostafa H ElberryVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Asmaa A El LeithyDepartment of Medical Biotechnology, College of Biotechnology, Misr University for Science and Technology, Giza, Egypt.
Ahmed El-TounySurgical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Ahmed Samy RabieSurgical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Mohamed ShalabySurgical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Ayman HanafySurgical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Mai M LotfyVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Enas R El-SisiVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Gharieb S El-SayyadDepartment of Microbiology and Immunology, Faculty of Pharmacy, Ahram Canadian University, Giza, Egypt. Gharieb.Elsayyad@gu.edu.eg.
Auhood NassarVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Cairo University · EGMisr University for Science and Technology · EGAhram Canadian University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study aimed to identify BRCA1/2 mutational patterns in the tissue and blood of Egyptian colorectal cancer (CRC) patients and to study the possible correlation of this mutational pattern with Human papillomavirus (HPV) infection. Eighty-two colonoscopic biopsies and forty-six blood samples were collected from Egyptian CRC patients, as well as blood samples of age and sex-matched healthy controls (n = 43) were enrolled. The libraries were performed using Qiaseq Human BRCA1 and BRCA2 targeted DNA panel and sequenced via Ion proton sequencer. Also, the CRC tissues were subjected to conventional PCR targeting the HPV Late 1 (L1) region. Our analysis revealed that the BRCA-DNA damage pathway had been altered in more than 65% of the CRC patients. Comparing tissue and blood samples from CRC patients, 25 somatic mutations were found exclusively in tissue, while 41 germline mutations were found exclusively in blood. Additionally, we identified 23 shared BRCA1/2 pathogenic (PVs) mutations in both blood and tissue samples, with a significantly higher frequency in blood samples compared to tissue samples. The most affected exon in BRCA1 was exon 10, while the most affected exons in BRCA2 were 11, 14, 18, 24, and 27 exons. Notably, we revealed an ethnic-related cluster of polymorphism variants in our population closely related to South Asian and African ethnicities. Novel PVs were identified and submitted to the ClinVar database. HPV was found in 23.8% of the CRC tissues, and 54% of HPV-positive cases had somatic BRCA1/2 PVs. The results of this research point to a possible connection between infection with HPV and BRCA1/2 mutations in the occurrence of colorectal cancer in the Egyptian population, which has a mixed ethnic background. Our data also indicate that liquid biopsy (blood samples) may be more representative than tissue samples for detecting BRCA1/2 mutations. These findings may have implications for cancer screening and the development of personalized, targeted therapies, such as PARP inhibitors, which can effectively target BRCA1/2 mutations.

Indexed as

BRCA1 ProteinBRCA2 ProteinColorectal NeoplasmsOvarian NeoplasmsPapillomavirus InfectionsEgyptGenetic Predisposition to DiseaseGerm-Line MutationHuman Papillomavirus VirusesHumansMutationNorth African PeopleBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2Egyptian colorectal cancerNext-generationPathogenicSequencing

Identifiers

PMID37804357
PMCPMC10725364
OpenAlexW4387428504

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.