Zsofia K. Stadler
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View article: Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum Open
Germline pathogenic variants (PV) in CDKN2A are characterized by an increased risk for melanoma, pancreatic cancer, nervous system tumors, and additional cancer types. We sought to define the tumor and clinical characteristics in a cohort …
View article: The Impact of Breast Cancer Polygenic Risk Score Disclosure on Decisional Conflict Around Risk-Reducing Mastectomy in <i>BRCA1/2</i> Carriers
The Impact of Breast Cancer Polygenic Risk Score Disclosure on Decisional Conflict Around Risk-Reducing Mastectomy in <i>BRCA1/2</i> Carriers Open
Purpose Female BRCA1/2 carriers face high breast cancer risks and complex preventive decisions, which can generate decisional conflict. Polygenic Risk Scores (PRS) offer individualized risk estimates that may support decision-making. We ex…
View article: Spectrum, molecular features, and clinical outcomes of hematologic malignancies and clonal hematopoiesis in li fraumeni syndrome
Spectrum, molecular features, and clinical outcomes of hematologic malignancies and clonal hematopoiesis in li fraumeni syndrome Open
Background: Li Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by germline pathogenic variants in the TP53 gene. The classic LFS tumor spectrum includes sarcoma, breast, brain, and adrenocortical cancers. Hematologic mal…
View article: ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states
ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states Open
Introduction Heterozygous germline pathogenic variants (PVs) in the 5' untranslated region of ANKRD26 cause inherited thrombocytopenia and predisposition to hematologic malignancy (HM). The estimated lifetime HM risk is ~10% based on famil…
View article: Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors
Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors Open
Several tumor predisposition syndromes have been linked to the development of gliomas and glioneuronal tumors (glioma/GNT). For many pathogenic germline variants, the prevalence and clinical significance remain unclear. Germline variants a…
View article: Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy Open
With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is ne…
View article: Sarcoid-like reactions in patients treated with checkpoint inhibitors for advanced solid tumors
Sarcoid-like reactions in patients treated with checkpoint inhibitors for advanced solid tumors Open
Importance While new intrathoracic adenopathy in a patient with cancer can represent progression of disease, the differential diagnosis is broad. Sarcoid-like reactions (SLR) remain an underreported source of lymphadenopathy in patients tr…
View article: Responsiveness of different MET tumour alterations to type I and type II MET inhibitors
Responsiveness of different MET tumour alterations to type I and type II MET inhibitors Open
Background Mutations in c‐MET receptor tyrosine kinase (MET) can be primary oncogenic drivers of multiple tumour types or can be acquired as mechanisms of resistance to therapy. MET tyrosine kinase inhibitors (TKIs) are classified as type …
View article: Nonoperative Management of Mismatch Repair–Deficient Tumors
Nonoperative Management of Mismatch Repair–Deficient Tumors Open
Among patients with early-stage dMMR solid tumors that were amenable to curative-intent surgery, neoadjuvant PD-1 blockade led to organ preservation in a high proportion of patients. (Funded by Swim Across America and others; ClinicalTrial…
View article: Differences in Ancestry and Presence of Gastric Precursor Lesions in Individuals With Young‐ and Average‐Onset Gastric Cancer
Differences in Ancestry and Presence of Gastric Precursor Lesions in Individuals With Young‐ and Average‐Onset Gastric Cancer Open
Background There has been a paradoxical rise in young‐onset gastric cancer (YOGC), defined as gastric cancer (GC) diagnosed before age 50. Precursor lesions may contribute to pathogenesis, though their role in progression to different hist…
View article: Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?
Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact? Open
PURPOSE Although germline genetic testing (GT) is recommended for all patients with ovarian cancer (OC) and some patients with endometrial cancer (EC), uptake remains low with multiple barriers. Our center performs GT in parallel with soma…
View article: EPCO-32. PROSPECTIVE GERMLINE SEQUENCING OF PATIENTS WITH GLIOMAS, GLIONEURONAL OR NEURONAL TUMORS
EPCO-32. PROSPECTIVE GERMLINE SEQUENCING OF PATIENTS WITH GLIOMAS, GLIONEURONAL OR NEURONAL TUMORS Open
BACKGROUND Several genetic syndromes have been linked to the development of central nervous system (CNS) tumors; however, the prevalence and clinical significance of germline pathogenic variants in this population remain unclear. METHODS 2…
View article: Supplementary Figure S1 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Figure S1 from The impact of germline alterations in appendiceal adenocarcinoma Open
Supplemental Figure 1: Appendix cancer specific survival in patients with stage IV appendiceal adenocarcinoma stratified by presence of a germline variant. Highlighted Kaplan Meier curve areas display the 95% confidence interval for the re…
View article: Supplementary Figure S1 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Figure S1 from The impact of germline alterations in appendiceal adenocarcinoma Open
Supplemental Figure 1: Appendix cancer specific survival in patients with stage IV appendiceal adenocarcinoma stratified by presence of a germline variant. Highlighted Kaplan Meier curve areas display the 95% confidence interval for the re…
View article: Supplementary Table S2 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S2 from The impact of germline alterations in appendiceal adenocarcinoma Open
Germline mutations present in the assessed cohort of patients with appendiceal adenocarcinoma.
View article: Supplementary Table S3 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S3 from The impact of germline alterations in appendiceal adenocarcinoma Open
Clinicopathologic Features of the Appendix-Specific Survival Analysis Cohort
View article: Data from The impact of germline alterations in appendiceal adenocarcinoma
Data from The impact of germline alterations in appendiceal adenocarcinoma Open
Purpose: Over 10% of assessed patients with appendiceal adenocarcinoma (AC) have a pathogenic (P) or likely pathogenic (LP) germline variant, including genes implicated in heritable gastrointestinal cancer syndromes, such as Lynch Syndrome…
View article: Supplementary Table S1 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S1 from The impact of germline alterations in appendiceal adenocarcinoma Open
Genes evaluated by the MSK IMPACT germline sequencing panel
View article: Supplementary Table S1 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S1 from The impact of germline alterations in appendiceal adenocarcinoma Open
Genes evaluated by the MSK IMPACT germline sequencing panel
View article: Supplementary Table S2 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S2 from The impact of germline alterations in appendiceal adenocarcinoma Open
Germline mutations present in the assessed cohort of patients with appendiceal adenocarcinoma.
View article: Supplementary Figure S2 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Figure S2 from The impact of germline alterations in appendiceal adenocarcinoma Open
Appendix cancer specific survival in patients with stage IV appendiceal adenocarcinoma stratified by presence of a germline variant in CHEK2 (n=3) or BRCA1(n=1) associated with homologous recombination deficiency (HRD). Patients with germl…
View article: Supplementary Figure S2 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Figure S2 from The impact of germline alterations in appendiceal adenocarcinoma Open
Appendix cancer specific survival in patients with stage IV appendiceal adenocarcinoma stratified by presence of a germline variant in CHEK2 (n=3) or BRCA1(n=1) associated with homologous recombination deficiency (HRD). Patients with germl…
View article: Supplementary Table S3 from The impact of germline alterations in appendiceal adenocarcinoma
Supplementary Table S3 from The impact of germline alterations in appendiceal adenocarcinoma Open
Clinicopathologic Features of the Appendix-Specific Survival Analysis Cohort
View article: Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees
Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees Open
Despite significant advances in our understanding of genetic cancer susceptibility, known inherited cancer predisposition syndromes explain at most 20% of early-onset cancers. As early-onset cancer prevalence continues to increase, the nee…
View article: Consideration of a Novel Surgical Approach in the Management of Gastric Adenocarcinoma and Proximal Polyposis Syndrome
Consideration of a Novel Surgical Approach in the Management of Gastric Adenocarcinoma and Proximal Polyposis Syndrome Open
Investigators at MSKCC highlight a novel surgical approach to manage GAPPS.