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List of works by Zsofia K. Stadler

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

scientific article published on 22 April 2020

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

scientific article published on 11 January 2016

A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors

scientific article published on 12 February 2020

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

A combined proteomics and Mendelian randomization approach to investigate the effects of aspirin-targeted proteins on colorectal cancer

scientific article published on 14 December 2020

A counseling framework for moderate-penetrance colorectal cancer susceptibility genes

scientific article published in March 2018

Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families

article

Acquired resistance to immunotherapy in MMR-D pancreatic cancer

scientific article published on 20 November 2018

Adoption of Total Neoadjuvant Therapy for Locally Advanced Rectal Cancer.

scientific article published on 22 March 2018

Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes

scientific article published on 08 January 2019

An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice: A Review

scientific article published on 13 February 2020

An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions

scientific article

Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade

scientific article published on 01 April 2019

Assessment of SLX4 Mutations in Hereditary Breast Cancers

scientific article

Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families

scientific article published on 14 May 2014

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Author Correction: Tumour lineage shapes BRCA-mediated phenotypes

scientific article published on 01 January 2020

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels ⬇️

scientific article published on August 24, 2011

Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers

scientific article published on July 2009

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5' Splice Site.

scientific article

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies

scientific article published on 03 December 2019

Cancer genomics and inherited risk

scientific article published on 21 January 2014

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

scientific article published on 26 October 2020

Capecitabine With Mitomycin Reduces Acute Hematologic Toxicity and Treatment Delays in Patients Undergoing Definitive Chemoradiation Using Intensity Modulated Radiation Therapy for Anal Cancer

scientific article

Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening

scientific article published on 10 January 2020

Cellular localization of PD-L1 expression in mismatch-repair-deficient and proficient colorectal carcinomas.

scientific article

Characterization and Clinical Outcomes of DNA Mismatch Repair Deficient (MMR-D) Small Bowel Adenocarcinoma

scientific article published on 16 November 2020

Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family

scientific article published on 18 October 2016

Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer

scientific article

Clinical and genetic determinants of ovarian metastases from colorectal cancer.

scientific article published on 22 November 2016

Colorectal Carcinomas Containing Hypermethylated MLH1 Promoter and Wild-Type BRAF/KRAS Are Enriched for Targetable Kinase Fusions

scientific article published on 14 January 2019

Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade

scientific article published on 07 June 2019

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

scientific article published on 12 September 2016

Contemporary Validation of a Nomogram Predicting Colon Cancer Recurrence, Revealing All-Stage Improved Outcomes

Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome

scientific article

Correction: Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 01 July 2019

Counselling framework for moderate-penetrance cancer-susceptibility mutations

scientific article

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

scientific article published on 7 December 2018

Diagnosing Hereditary Colorectal Cancer ⬇️

scientific article published on October 1, 2010

Diagnosing colorectal medullary carcinoma: interobserver variability and clinicopathological implications

scientific article published on 26 December 2016

Diagnosis and management of DNA mismatch repair-deficient colorectal cancer

scientific article

Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies

scientific article published on 09 October 2020

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group

scientific article published on 12 October 2016

Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations.

scientific article

FOLFCIS Treatment and Genomic Correlates of Response in Advanced Anal Squamous Cell Cancer

scientific article published on 21 September 2018

False-positive elevations of carcinoembryonic antigen in patients with a history of resected colorectal cancer

scientific article published on 01 June 2014

Faster FOLFOX: Oxaliplatin Can Be Safely Infused at a Rate of 1 mg/m2/min

scientific article published on 12 April 2016

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

scientific article published on 03 September 2019

Genetic Predictors of Response to Systemic Therapy in Esophagogastric Cancer.

scientific article published on 9 November 2017

Genetic testing in gastrointestinal cancers: a case-based approach.

scientific article published on May 2012

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome doubling shapes the evolution and prognosis of advanced cancers

scientific article published on 16 July 2018

Genome-wide association studies of cancer

scientific article

Genome-wide association studies of cancer predisposition

scientific article published on October 2010

Genome-wide association studies of cancer: principles and potential utility.

scientific article published on June 2010

Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome

Genomic Correlates of Disease Progression and Treatment Response in Prospectively Characterized Gliomas

scientific article published on 01 July 2019

Genomic instability in pancreatic adenocarcinoma: a new step towards precision medicine and novel therapeutic approaches.

scientific article published on 16 February 2016

Germline BRCA mutations denote a clinicopathologic subset of prostate cancer

scientific article published on 09 March 2010

Germline EGFR T790M mutation found in multiple members of a familial cohort

scientific article published on April 2014

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

scientific article

Germline Pathogenic Variants and Genetic Counseling by Ancestry in Patients With Epithelial Ovarian Cancer

scientific article published in September 2023

Germline SDHA mutations in children and adults with cancer

scientific article published on 01 August 2018

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

scientific article

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings

scientific article published on 03 February 2020

Germline drivers of gynecologic carcinosarcoma (2274)

scientific article published in September 2023

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of germline genetic mutations in patients with pancreatic cancer

scientific article published on 06 October 2015

Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.

scientific article

Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples?

scientific article published in March 2011

Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel

scientific article published on 01 November 2009

Immunotherapy in colorectal cancer: rationale, challenges and potential

scientific article published on 01 June 2019

Indications for Total Gastrectomy in CDH1 Mutation Carriers and Outcomes of Risk-Reducing Minimally Invasive and Open Gastrectomies

scientific article published on 30 September 2020

Induction Chemotherapy Reduces Patient-reported Toxicities During Neoadjuvant Chemoradiation with Intensity Modulated Radiotherapy for Rectal Cancer

scientific article published on 06 April 2019

Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non–Muscle-Invasive Bladder Cancer

scientific article published in 2022

Inherited predisposition to endometrial cancer: Moving beyond Lynch syndrome

scientific article published on 5 November 2014

Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome

scientific article published on 15 October 2020

Juvenile Polyposis Syndrome Presenting With Familial Gastric Cancer and Massive Gastric Polyposis

Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?

scientific article published in March 2015

Majority of -Mutant and -Deficient Colorectal Carcinomas Achieve Clinical Benefit From Immune Checkpoint Inhibitor Therapy and Are Microsatellite Instability-High

scientific article published on 04 March 2019

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

scientific article published on 30 October 2018

Mismatch Repair Deficient Rectal Cancer and Resistance to Neoadjuvant Chemotherapy

scientific article published on 06 March 2020

Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case

scientific article published in March 2015

Molecular Screening for Lynch Syndrome in Young Patients With Colorectal Adenomas

scientific article

Morphological characterization of colorectal cancers in The Cancer Genome Atlas reveals distinct morphology-molecular associations: clinical and biological implications

scientific article published on 16 December 2016

Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome

scientific article published in September 2014

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

scientific article published in September 2017

Neoadjuvant chemotherapy first, followed by chemoradiation and then surgery, in the management of locally advanced rectal cancer.

scientific article published on April 2014

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2

scientific article published on 23 July 2019

PD-1 Blockade in Mismatch Repair–Deficient, Locally Advanced Rectal Cancer

scientific article published on 5 June 2022

PMS2 monoallelic mutation carriers: the known unknown

scientific article

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors

scientific article published on 23 October 2019

Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival

scientific article published in January 2024

Patterns and prognostic relevance of PD-1 and PD-L1 expression in colorectal carcinoma.

scientific article published on 22 July 2016

Perceptions of patients with early stage breast cancer toward research biopsies

scientific article published on 15 December 2020

Phase 1 trial evaluating cisplatin, gemcitabine, and veliparib in 2 patient cohorts: Germline BRCA mutation carriers and wild-type BRCA pancreatic ductal adenocarcinoma

scientific article published on 16 January 2018

Phase II trial of veliparib in patients with previously treated BRCA-mutated pancreas ductal adenocarcinoma

scientific article

Phenotypic differences in Juvenile Polyposis Syndrome with or without a disease-causing SMAD4/BMPR1A variant

scientific article published on 23 October 2020

Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer

scientific article published on 19 May 2011

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

scientific article published on 01 September 2018

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

scientific article published on 01 October 2018

Prospective Immunohistochemical Analysis of Primary Colorectal Cancers for Loss of Mismatch Repair Protein Expression ⬇️

scientific article published on 01 October 2010

Protein-altering germline mutations implicate novel genes related to lung cancer development

scientific article published on 11 May 2020

Quantitative assessment of tumor-infiltrating lymphocytes in mismatch repair proficient colon cancer

scientific article published on 11 November 2020

RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis

scientific article published on 01 May 2019

Randomized, Multicenter, Phase II Trial of Gemcitabine and Cisplatin With or Without Veliparib in Patients With Pancreas Adenocarcinoma and a Germline BRCA/PALB2 Mutation

scientific article published on 24 January 2020

Rare de novo germline copy-number variation in testicular cancer

scientific article published on 2 August 2012

Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability

scientific article published on 19 April 2018

Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels

scientific article published on 28 March 2016

Reliable Pan-Cancer Microsatellite Instability Assessment by Using Targeted Next-Generation Sequencing Data

scientific article published on 03 October 2017

Reply to G. Le Flahec et al.

scientific article published on 24 October 2016

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes

scientific article published on 19 December 2019

Review of gene-expression profiling and its clinical use in breast cancer

scientific article published on 09 July 2008

Risk of Metachronous Colorectal Neoplasm after a Segmental Colectomy in Lynch Syndrome Patients According to Mismatch Repair Gene Status

scientific article published on 30 January 2020

Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer

scientific article published on 16 November 2012

Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes

scientific article published on 28 September 2021

Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency

scientific article published on 24 August 2012

Serum alpha-fetoprotein response as a surrogate for clinical outcome in patients receiving systemic therapy for advanced hepatocellular carcinoma

scientific article published on 06 July 2009

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA

scientific article published on 17 August 2018

Structure of the Mucosal and Stool Microbiome in Lynch Syndrome

scientific article published on 01 April 2020

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

scientific journal article

Synchronous breast cancers with different morphologic and molecular phenotypes occurring in Lynch syndrome: what does the heterogeneity imply?

scientific article published on 01 November 2011

Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection

scientific article published on 01 January 2012

The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized.

scientific article

Therapeutic Implications of Germline Testing in Patients With Advanced Cancers

scientific article published on 16 June 2021

Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients

scientific article

Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 21 February 2019

Tumor mutational load predicts survival after immunotherapy across multiple cancer types

scientific article published on 14 January 2019

Tumor-Infiltrating Lymphocytes, Tumor Mutational Burden, and Genetic Alterations in Microsatellite Unstable, Microsatellite Stable, or Mutant <i>POLE/POLD1</i> Colon Cancer

scientific article published in 2021

Tumour lineage shapes BRCA-mediated phenotypes

scientific article published on 10 July 2019

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer

scientific article published on 25 April 2019

Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations

scientific article published on 01 October 2017

Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

scientific article published on 17 April 2012

Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations

scientific article published on 30 June 2016

Variation in the Attitudes of Medical Oncologists Toward Research Biopsies in Patients With Metastatic Breast Cancer

scientific article

Weighing options for cancer risk reduction in carriers of BRCA1 and BRCA2 mutations.

scientific article

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