Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family.
Danbaki AS et al.
Current Issues in Molecular Biology, 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Paired Comparison of Whole Genome Sequencing and Comprehensive Targeted Sequencing of Pancreatic Cancer Tissue.
Hvidtfeldt TA et al.
Anticancer Research, 2025
Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.
Ul Haq S et al.
Jto Clinical and Research Reports, 2024
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 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
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
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
The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
Gianni P et al.
Clinical Breast Cancer, 2022
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report.
Guo Y et al.
Ame Case Reports, 2021
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
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M et al.
Nature Communications, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Two truncating variants in FANCC and breast cancer risk.
Dörk T et al.
Scientific Reports, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 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
Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
Annala M et al.
European Urology, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 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
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC et al.
Blood, 2013