[HTML][HTML] Applications and analysis of targeted genomic sequencing in cancer studies

F Bewicke-Copley, EA Kumar, G Palladino… - Computational and …, 2019 - Elsevier
Abstract Next Generation Sequencing (NGS) has dramatically improved the flexibility and
outcomes of cancer research and clinical trials, providing highly sensitive and accurate high …

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

B Leroy, ML Ballinger, F Baran-Marszak, GL Bond… - Cancer research, 2017 - AACR
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of
individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical …

Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients

J Sun, H Meng, LU Yao, M Lv, J Bai, J Zhang… - Clinical Cancer …, 2017 - AACR
Purpose: The prevalence of mutations in cancer susceptibility genes such as BRCA1 and
BRCA2 and other cancer susceptibility genes and their clinical relevance are largely …

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary …

J Hauke, J Horvath, E Groß, A Gehrig… - Cancer …, 2018 - Wiley Online Library
The prevalence of germ line mutations in non‐BRCA 1/2 genes associated with hereditary
breast cancer (BC) is low, and the role of some of these genes in BC predisposition and …

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

TP Slavin, KN Maxwell, J Lilyquist, J Vijai… - NPJ breast …, 2017 - nature.com
Understanding the gene-specific risks for development of breast cancer will lead to
improved clinical care for those carrying germline mutations in cancer predisposition genes …

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

A Taylor, AF Brady, IM Frayling, H Hanson… - Journal of medical …, 2018 - jmg.bmj.com
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with
the discovery of new genes, but there is much debate over the clinical utility of testing genes …

[HTML][HTML] Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

L Castéra, V Harter, E Muller, S Krieger, N Goardon… - Genetics in …, 2018 - Elsevier
Purpose Integration of gene panels in the diagnosis of hereditary breast and ovarian cancer
(HBOC) requires a careful evaluation of the risk associated with pathogenic or likely …

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

WM Alenezi, CT Fierheller, N Recio, PN Tonin - Genes, 2020 - mdpi.com
Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that
not all hereditary breast and/or ovarian cancer syndrome families were explained by …

Missed therapeutic and prevention opportunities in women with BRCA‐mutated epithelial ovarian cancer and their families due to low referral rates for genetic …

PJ Hoskins, WH Gotlieb - CA: A Cancer Journal for Clinicians, 2017 - Wiley Online Library
Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian
cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge …

[HTML][HTML] Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

K Lee, BA Seifert, H Shimelis, R Ghosh, SB Crowley… - Genetics in …, 2019 - Elsevier
Purpose Several genes on hereditary breast and ovarian cancer susceptibility test panels
have not been systematically examined for strength of association with disease. We …