ArticleScientific reports2025
Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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.
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.
Who cites it
4 citing papers in PubMed.
- Article
- Suppression of NGALR impedes TNBC cell survival, proliferation, invasion, and migration through Akt/mTOR and JAK/STAT3 pathway inhibition.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Association of genetic variation in TLR4 and TLR9 genes with susceptibility to invasive ductal breast carcinoma.Molecular biology reports · 2026Article
- Cost-effectiveness and budget impact of breast cancer genetic profiling in Egypt.Ecancermedicalscience · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rising incidence of breast cancer (BC) among Egyptian females with a mortality rate of 11% and younger age at diagnosis implied the study of the interplay of BRCA gene variants with other BC risk factors. The study enrolled 500 BC Egyptian females with a mean age of 47.29 ± 13.26 years for whom BRCA1/2 testing was offered. A history of BC and/or other related cancer was recorded for all patients. Peripheral blood samples were obtained for genomic DNA extraction in view of germline BRCA gene testing on the MiSeq platform. A positive family history was reported in 352 patients (70.4%). Patients with hormone receptor-positive (HR+) BC constituted 195 cases (39%) cases, while 305 patients (61%) had hormone receptor-negative (HR-) BC. Among the HR- group, 268 patients (53%) had triple-negative BC (TNBC), and 37 patients had low estrogen receptor (ER) (1-10%) and/ or low progesterone receptor (PR) expression with HER2 negative status. Patients with HER2-positive BC were excluded from the enrollment and directed to specific targeted therapy. Variants were classified according to the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP) criteria. Carriers of gBRCA1/2 PVs/LPVs were 58 patients (11.6%) of whom 34 (6.8%) had BRCA1 PVs/LPVs and 24 (4.8%) had BRCA2 PVs/LPVs. Patients with TNBC demonstrated a higher rate of gBRCA1/2 PVs/LPVs (17.5%). We recorded 55 PVs/LPVs in both genes, 44 single nucleotide variants (SNVs), and 11 copy number variations (CNVs). Three novel gBRCA1 LPVs; c.2791del, c.361G>T and c.4431dup and two novel gBRCA2 LPVs; gBRCA2 c.3139del and c.5690 dup were identified. Variants of uncertain significance (VUS) were found in 22 patients, of whom 13 (59%) had a positive family history of breast/ovarian cancer. Genomic testing for BRCA1/2 status as part of a routine BC diagnostic workup contributes to comprehensive BC risk assessment.Trial registration: Egyptian National Cancer Institute IRB approval number: 2301-305-051. Date of registration: 24th Jan 2023.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.