Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Liu B et al.
Cancer Medicine, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
Successful Management of a Patient with Refractory Primary Central Nervous System Lymphoma by Zanubrutinib.
Cheng Q et al.
Oncotargets and Therapy, 2021
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.
Yi Z et al.
Npj Breast Cancer, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.
Agarwal SK et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
Chrisanthar R et al.
Plos One, 2008
New doctorial cancer research: germline genetic alterations affecting CDKN2A, MDM2, and CDKN1A in melanoma and breast cancer patients.
Knappskog S
Critical Reviews in Oncogenesis, 2007
Mutations and polymorphisms of the p21B transcript in breast cancer.
Knappskog S et al.
International Journal of Cancer, 2007
The novel p21 polymorphism p21G251A is associated with locally advanced breast cancer.
Staalesen V et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006
Genetic and epigenetic changes in p21 and p21B do not correlate with resistance to doxorubicin or mitomycin and 5-fluorouracil in locally advanced breast cancer.
Staalesen V et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004