CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

L Stolarova, P Kleiblova, M Janatova, J Soukupova… - Cells, 2020 - mdpi.com
Germline alterations in many genes coding for proteins regulating DNA repair and DNA
damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as …

Genetic predisposition to breast and ovarian cancers: how many and which genes to test?

D Angeli, S Salvi, G Tedaldi - International journal of molecular sciences, 2020 - mdpi.com
Breast and ovarian cancers are some of the most common tumors in females, and the
genetic predisposition is emerging as one of the key risk factors in the development of these …

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

LR Susswein, ML Marshall, R Nusbaum… - Genetics in …, 2016 - nature.com
Purpose: Germ-line testing for panels of cancer genes using next-generation sequencing is
becoming more common in clinical care. We report our experience as a clinical laboratory …

Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing

J Balmaña, L Digiovanni, P Gaddam… - Journal of Clinical …, 2016 - ascopubs.org
Purpose Massively parallel sequencing allows simultaneous testing of multiple genes
associated with cancer susceptibility. Guidelines are available for variant classification; …

[HTML][HTML] Effects of mutations in Wnt/β-catenin, hedgehog, Notch and PI3K pathways on GSK-3 activity—Diverse effects on cell growth, metabolism and cancer

JA McCubrey, D Rakus, A Gizak, LS Steelman… - … et Biophysica Acta (BBA …, 2016 - Elsevier
Abstract Glycogen synthase kinase-3 (GSK-3) is a serine/threonine kinase that participates
in an array of critical cellular processes. GSK-3 was first characterized as an enzyme that …

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

P Kleiblova, L Stolarova, K Krizova… - … journal of cancer, 2019 - Wiley Online Library
Germline mutations in checkpoint kinase 2 (CHEK2), a multiple cancer‐predisposing gene,
increase breast cancer (BC) risk; however, risk estimates differ substantially in published …

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

S da Costa e Silva Carvalho, NM Cury, DB Brotto… - BMC medical …, 2020 - Springer
Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs
in families with a history of breast/ovarian cancer, presenting an autosomal dominant …

Homologous recombination deficiency in breast cancer: Implications for risk, cancer development, and therapy

RMM Ali, SA McIntosh, KI Savage - Genes, Chromosomes and …, 2021 - Wiley Online Library
An underlying cause of breast cancers has been largely attributed to defects in the DNA
damage response (DDR) pathway. In particular, the homologous recombination (HR) …

The evolving (epi) genetic landscape of pancreatic neuroendocrine tumours

CP Pipinikas, AM Berner, T Sposito… - Endocrine-related …, 2019 - erc.bioscientifica.com
Neuroendocrine neoplasms (NENs) are a relatively rare group of heterogeneous tumours
originating from neuroendocrine cells found throughout the body. Pancreatic NENs …

CHEK21100delC Mutation and Risk of Prostate Cancer

V Hale, M Weischer, JY Park - Prostate Cancer, 2014 - Wiley Online Library
Although the causes of prostate cancer are largely unknown, previous studies support the
role of genetic factors in the development of prostate cancer. CHEK2 plays a critical role in …