[HTML][HTML] Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review

A Pantaleo, G Forte, C Fasano, M Lepore Signorile… - Cancers, 2023 - mdpi.com
Simple Summary Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with
high mortality. Most patients present with an advanced stage of the disease, highlighting the …

Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia

MJ Kim, S Kim, SW Chae, S Lee, JG Yoon… - Journal of Human …, 2023 - nature.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting ciliary
structure and function. PCD exhibiting dynein regulatory complex subunit 1 (DRC1) exon 1 …

[HTML][HTML] Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Y Zhang, H Wu, Z Yu, L Li, J Zhang, X Liang, Q Huang - BMC cancer, 2022 - Springer
Objective To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in
Chinese Hakka patients with breast and ovarian cancer. Methods A total of 1,664 breast or …

[HTML][HTML] Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity

G Zhunussova, N Omarbayeva, D Kaidarova… - Oncotarget, 2023 - ncbi.nlm.nih.gov
Breast cancer (BC) is the most common type of cancer among women in Kazakhstan. To
date, little data are available on the spectrum of genetic variation in Kazakh women with BC …

[HTML][HTML] Frequency of pathogenic germline mutations in early and late onset familial breast cancer patients using multi-gene panel sequencing: an Egyptian study

A Nassar, ARN Zekri, MM Kamel, MH Elberry, MM Lotfy… - Genes, 2022 - mdpi.com
Background: Precision oncology has been increasingly used in clinical practice and rapidly
evolving in the oncology field. Thus, this study was performed to assess the frequency of …

[HTML][HTML] Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations

J Kim, K Jeong, H Jun, K Kim, JM Bae, MG Song, H Yi… - Human Genomics, 2023 - Springer
Background Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2
(gBRCA1/2) are associated with elevated risk of breast cancer in young women in Asia …

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing

H Elshwekh, IM Alhudiri, A Elzagheid, N Enattah… - Cells, 2024 - mdpi.com
Our study focused on assessing the effects of three newly identified BRCA1 exon 11 variants
(c. 1019T> C, c. 2363T> G, and c. 3192T> C) on breast cancer susceptibility. Using …

Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients

AD Isiklar, L Aliyeva, A Yesilyurt, A Soyder… - Breast Cancer Research …, 2023 - Springer
Purpose One of the most important risk factors for hereditary breast and ovarian cancer is
young age. We aim to report the frequency of pathogenic/likely pathogenic variants in breast …

Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) …

H Abdel‐Razeq, K Al‐Azzam, S Elemian… - … Genetics & Genomic …, 2023 - Wiley Online Library
Background Ovarian cancer is one of the most common gynecological malignancies. Due to
the absence of effective screening methods, ovarian cancer is usually diagnosed at late …

Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya

ES Elmaihub, I Alhudiri, AM Ramadan… - Libyan Journal of …, 2024 - Taylor & Francis
Breast cancer (BC) is a leading cause of cancer deaths in Libyan women. BRCA1 variants
differ globally due to the diversity of genetic makeup and populations history. Their …