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Author Details

Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
1986
417
92
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37470159<i>BRCA1/2</i> mutations and <i>de novo</i> hematologic malignancies: true, true and not clearly related.Haematologica2024
37246069Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.Eur Urol2024
36346689NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.Clin Cancer Res2023
37486343The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.Clin Cancer Res2023
37841875Dual blockade of BRD4 and ATR/WEE1 pathways exploits <i>ARID1A</i> loss in clear cell ovarian cancer.Res Sq2023
37611220Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.J Clin Oncol2023
37932730Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices.Implement Sci2023
37535879Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers.JCO Precis Oncol2023
37639653Development of an Electronic Health Record-Based Clinical Decision Support Tool for Patients With Lynch Syndrome.JCO Clin Cancer Inform2023
37425424Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients.Transl Lung Cancer Res2023
37253112Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.Cancer Res2023
37015340Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer.J Natl Compr Canc Netw2023
37131684ERK Hyperactivation Serves as a Unified Mechanism of Escape in Intrinsic and Acquired CDK4/6 Inhibitor Resistance in Acral Lentiginous Melanoma.Res Sq2023
36623243Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in <i>ATM</i>, <i>BRCA1</i>, <i>BRCA2</i>, <i>CHEK2</i>, and <i>PALB2</i>.J Clin Oncol2023
36711814Dasatinib Resensitizes MAPK Inhibitor Efficacy in Standard-of-Care Relapsed Melanomas.bioRxiv2023
36201134Efficacy of laparoscopic fundoplication in patients with chronic cough and gastro-oesophageal reflux.Esophagus2023
36089892Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.Clin Genet2023
36054930A distinct pattern of growth and RAC1 signaling in melanoma brain metastasis cells.Neuro Oncol2023
34331132Portal vein thrombosis following elective laparoscopic splenectomy: incidence and analysis of risk factors.Surg Endosc2022
35617956A human breast atlas integrating single-cell proteomics and transcriptomics.Dev Cell2022
35700037Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.Cancer Epidemiol Biomarkers Prev2022
35554533Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.Hum Mol Genet2022
36556195The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.J Pers Med2022
36107166Impact of integrating genomic data into the electronic health record on genetics care delivery.Genet Med2022
36344544Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.Nat Commun2022
34984527Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.Arch Dermatol Res2022
34906490Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.Genet Med2022
34906489Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank.Genet Med2022
35201851<i>PTEN</i> Loss and <i>BRCA1</i> Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.JCO Precis Oncol2022
34320204Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.J Natl Cancer Inst2022
34173196Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study.J Gen Intern Med2022
34193977Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.Leukemia2022
32712161TSLP and IL-7R Variants Are Associated with Persistent Atopic Dermatitis.J Invest Dermatol2021
33769540Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry.J Natl Cancer Inst2021
33713608Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.Am J Hum Genet2021
33737296Genetically Inferred Telomere Length and Testicular Germ Cell Tumor Risk.Cancer Epidemiol Biomarkers Prev2021
34909743Using a Machine Learning Approach to Identify Low-Frequency and Rare <i>FLG</i> Alleles Associated with Remission of Atopic Dermatitis.JID Innov2021
34672684Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.J Clin Oncol2021
34622231<i>CCNE1</i> copy number is a biomarker for response to combination WEE1-ATR inhibition in ovarian and endometrial cancer models.Cell Rep Med2021
33941922Evolution of delayed resistance to immunotherapy in a melanoma responder.Nat Med2021
34250405From Race-Based to Precision Oncology: Leveraging Behavioral Economics and the Electronic Health Record to Advance Health Equity in Cancer Care.JCO Precis Oncol2021
34250406Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants.JCO Precis Oncol2021
34042955Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.JAMA Oncol2021
33990587Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nat Commun2021
34101481Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.J Clin Oncol2021
33986121Mastermind Like Transcriptional Coactivator 3 (MAML3) Drives Neuroendocrine Tumor Progression.Mol Cancer Res2021
34343338Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement.Cancer2021
34292776Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.J Clin Oncol2021
34234117Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.Nat Commun2021
34089611Correlation Between Plasma Catecholamines, Weight, and Diabetes in Pheochromocytoma and Paraganglioma.J Clin Endocrinol Metab2021
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Collaborators

Susan M Domchek
Co-authored papers 134
Fergus J Couch
Mayo Clinic
Co-authored papers 98
Douglas F Easton
University of Cambridge
Co-authored papers 82
Georgia Chenevix-Trench
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Co-authored papers 71
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Co-authored papers 64
Irene L Andrulis
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Co-authored papers 61
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University of Utah
Co-authored papers 60
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Instituto de Salud Carlos III
Co-authored papers 59
Esther M John
Co-authored papers 59
Paolo Radice
Ospedale Circolo e Fondazione Macchi
Co-authored papers 57
Ana Osorio
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre
Co-authored papers 52
Judy E Garber
Dana-Farber Cancer Institute
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Fondazione IRCCS Istituto Nazionale dei Tumori
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Mary Beth Terry
Co-authored papers 39
Beth Y Karlan
David Geffen School of Medicine, University of California los angeles
Co-authored papers 38
Jan Lubinski
Pomeranian Medical University
Co-authored papers 38
Barbara L Weber
Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
Co-authored papers 34
Christopher A Haiman
University of Southern California
Co-authored papers 34
Noralane M Lindor
Mayo Clinic
Co-authored papers 32
Meenhard Herlyn
Ellen and Ronald Caplan Cancer Center, The Wistar Institute
Co-authored papers 32
Xiaoqing Chen
QIMR Berghofer Medical Research Institute
Co-authored papers 31
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 30
Jacek Gronwald
International Hereditary Cancer Center, Pomeranian Medical University
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Jonathan Beesley
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Paul D P Pharoah
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Susan J Ramus
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