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Author Details

Sarah M Nielsen
Invitae Corporation
2011
48
14
PMIDPaper TitleJournal TitlePublished Year
37814187Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.Ann Surg Oncol2024
37756683Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.J Natl Cancer Inst2024
36537080Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.Mol Genet Genomic Med2023
37806842Clinical and Functional Analyses of an African-ancestry Gain-of-function HOXB13 Variant Implicated in Aggressive Prostate Cancer.Eur Urol Oncol2023
37992258Rate of Pathogenic Germline Variants in Patients With Lung Cancer.JCO Precis Oncol2023
37574391Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.Eur Urol Oncol2023
37535880Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.JCO Precis Oncol2023
37156429Racial disparities in cascade testing for cancer predisposition genes.Prev Med2023
36773955Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.Urology2023
34622392Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.Fam Cancer2022
35691755Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.Gynecol Oncol2022
35488122Correction: Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
35626031Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients.Cancers (Basel)2022
36497357Ashkenazi Jewish and Other White <i>APC</i> I1307K Carriers Are at Higher Risk for Multiple Cancers.Cancers (Basel)2022
36108258Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.JCO Precis Oncol2022
36310832<sup>68</sup>Ga-DOTATATE Avid Metastatic Vertebral Renal Cell Carcinoma in the Setting of von Hippel-Lindau Syndrome.Nucl Med Mol Imaging2022
36279135Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.JAMA Netw Open2022
36370464Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.JCO Precis Oncol2022
35867948Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO Glob Oncol2022
36136330Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer.JAMA Netw Open2022
36094610Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.Breast Cancer Res Treat2022
34949788CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.Br J Cancer2022
34906479Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
35228665Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
34724198Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.Cancer2022
34250406Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants.JCO Precis Oncol2021
33789101Trans-ethnic variation in germline variants of patients with renal cell carcinoma.Cell Rep2021
34585040Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark.JCO Precis Oncol2021
32376981Longitudinal follow-up after telephone disclosure in the randomized COGENT study.Genet Med2020
33026450Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.JAMA Netw Open2020
32516092Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.J Clin Oncol2020
30417332Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.Clin Genet2019
31434110USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan.JAMA Netw Open2019
31407530Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.Cancer Med2019
29236593Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.J Clin Oncol2018
31819920Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.JCO Precis Oncol2018
29946849Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.J Genet Couns2018
29445900Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.Fam Cancer2018
29490071Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.J Natl Cancer Inst2018
28448241Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.J Clin Oncol2017
26699384Germline PARP4 mutations in patients with primary thyroid and breast cancers.Endocr Relat Cancer2016
27564075Neurological Management of Von Hippel-Lindau Disease.Neurologist2016
27114602Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.J Clin Oncol2016
26908594The Breast-Thyroid Cancer Link: A Systematic Review and Meta-analysis.Cancer Epidemiol Biomarkers Prev2016
25123297Tumor genome analysis includes germline genome: are we ready for surprises?Int J Cancer2015
25297947Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.Genet Med2015
21204227Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.Am J Med Genet A2011
21713522Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.Fam Cancer2011
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Collaborators

Edward D Esplin
Invitae Corporation
Co-authored papers 27
Kathryn E Hatchell
Invitae Corporation
Co-authored papers 16
Robert L Nussbaum
Invitae Corporation
Co-authored papers 9
Susan M Domchek
Co-authored papers 7
Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
Co-authored papers 3
John K Parsons
university of california san diego Moores Cancer Center
Co-authored papers 3
Brian Shuch
University of California los angeles
Co-authored papers 3
Timothy R Rebbeck
Center for Cancer Equity and Engagement, Dana-Farber/Harvard Cancer Center
Co-authored papers 3
Matthew L Freedman
Dana-Farber Cancer Institute
Co-authored papers 3
Judy E Garber
Dana-Farber Cancer Institute
Co-authored papers 3
Blake R Wilde
University of California los angeles
Co-authored papers 2
Howard M Sandler
Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center
Co-authored papers 2
Irene L Andrulis
University of Toronto
Co-authored papers 2
Kathleen A Cooney
Duke University School of Medicine, and the Duke Cancer Institute
Co-authored papers 2
Paul C Boutros
University of California los angeles
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Emily D Crawford
Co-authored papers 2
Oliver Sartor
Tulane University School of Medicine
Co-authored papers 2
Eric Lu
David Geffen School of Medicine at university of california los angeles
Co-authored papers 2
Stephen E Lincoln
Co-authored papers 2
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Todd M Morgan
University of Michigan ann arbor
Co-authored papers 2
Toni K Choueiri
Dana-Farber Cancer Institute
Co-authored papers 2
Esther M John
Co-authored papers 2
Christi J van Asperen
Leiden University Medical Center
Co-authored papers 2
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 2
Gerald L Andriole
Co-authored papers 2
David E Goldgar
University of Utah
Co-authored papers 2
Wendy S Rubinstein
CancerLinQ LLC, American Society of Clinical Oncology
Co-authored papers 2
Lisa Madlensky
Department of Medicine and Moores Cancer Center, University of California San Diego.
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Release 1.2