Associated Papers
Maladaptive somatic gene rescue as predisposition to JAK2 molecular abnormalities? Insights from an Israeli family.
Borsani O et al.
Annals of Hematology, 2026
Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Nakano Y et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Paixão D et al.
Frontiers in Oncology, 2022
Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2).
Swisher EM et al.
Nature Communications, 2021
33941784 (PubMed )
Supplement: 41467_2021_22582_MOESM1_ESM.pdf
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
33318203 (PubMed )
Supplement: pnas.2019652117.sapp.pdf
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.
Pishvaian MJ et al.
Oncotarget, 2017
29137355 (PubMed )
Supplement: oncotarget-08-83446-s002.xlsx › Table_S2
Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
Moran O et al.
Breast Cancer Research and Treatment, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
de Voer RM et al.
Scientific Reports, 2015
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
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