Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Boga I et al.
European Journal of Breast Health, 2023
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.
Biswas K et al.
Nature Communications, 2018
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
Na R et al.
European Urology, 2017
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
Vysotskaia VS et al.
Peerj, 2017
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
Caminsky NG et al.
Human Mutation, 2016
Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
Koczkowska M et al.
Cancer Medicine, 2016
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN et al.
American Journal of Human Genetics, 2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
Kang HP et al.
Peerj, 2016
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015