Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome
Pathogenic germline variants in TP53 predispose carriers to the multi‐cancer Li‐Fraumeni
syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic …
syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic …
[HTML][HTML] Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations
POLη, encoded by the POLH gene, is a crucial protein for replicating damaged DNA and the
most studied specialized translesion synthesis polymerases. Mutations in POLη are …
most studied specialized translesion synthesis polymerases. Mutations in POLη are …
[HTML][HTML] Breast cancer epidemiology among Lebanese women: an 11-year analysis
Background and Objectives: Breast cancer is the most prevalent cancer in women
worldwide. Lebanon is a developing country in the Middle East with a prominent breast …
worldwide. Lebanon is a developing country in the Middle East with a prominent breast …
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
E Girard, S Eon‐Marchais, R Olaso… - … journal of cancer, 2019 - Wiley Online Library
Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of
about 10% of hereditary breast and ovarian cancer families. Because of cost‐effectiveness …
about 10% of hereditary breast and ovarian cancer families. Because of cost‐effectiveness …
[HTML][HTML] Frequency of pathogenic germline mutations in early and late onset familial breast cancer patients using multi-gene panel sequencing: an Egyptian study
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 …
evolving in the oncology field. Thus, this study was performed to assess the frequency of …
[HTML][HTML] Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations
M Suszynska, P Kozlowski - Genes, 2020 - mdpi.com
Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have
been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role …
been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role …
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma
Patients harboring germline pathogenic biallelic variants in genes involved in the
recognition and repair of DNA damage are known to have a substantially increased cancer …
recognition and repair of DNA damage are known to have a substantially increased cancer …
The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data
The development of breast cancer depends on several risk factors, including environmental,
lifestyle and genetic factors. Despite the evolution of DNA sequencing techniques and …
lifestyle and genetic factors. Despite the evolution of DNA sequencing techniques and …
Genome‐wide association analysis identifies a GLUL haplotype for familial hepatitis B virus‐related hepatocellular carcinoma
YY Lin, MW Yu, SM Lin, SD Lee, CL Chen, DS Chen… - Cancer, 2017 - Wiley Online Library
BACKGROUND A family history of liver cancer increases the risk of developing
hepatocellular carcinoma (HCC) by 2‐fold to 10‐fold among patients with chronic hepatitis B …
hepatocellular carcinoma (HCC) by 2‐fold to 10‐fold among patients with chronic hepatitis B …
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region
SC Elalaoui, FZ Laarabi, L Afif, J Lyahyai… - Breast Cancer Research …, 2022 - Springer
Purpose Breast cancer (BC) is the most common form of female cancer around the world.
BC is mostly sporadic, and rarely hereditary. These hereditary forms are mostly BRCA1-and …
BC is mostly sporadic, and rarely hereditary. These hereditary forms are mostly BRCA1-and …