Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 2025
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Lin I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Marchena-Perea EM et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.
Cottrell E et al.
Journal of Endocrinological Investigation, 2021
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Schienda J et al.
Jco Precision Oncology, 2021
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Bononi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Rotunno M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.
Priyadarshini R et al.
Cell Reports, 2018
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Cunniff C et al.
Molecular Syndromology, 2017
Identification of novel hereditary cancer genes by whole exome sequencing.
Sokolenko AP et al.
Cancer Letters, 2015
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
Perreault-Micale C et al.
Molecular Genetics & Genomic Medicine, 2015
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G et al.
Molecular Biology Reports, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
Renes JS et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
Prokofyeva D et al.
Breast Cancer Research and Treatment, 2013
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012