Liying Zhang

发表

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.

Kenneth Offit, Barry S Taylor, Vignesh Ravichandran, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

Donavan T. Cheng, M. Ladanyi, M. Berger, 2016, JAMA oncology.

Tumour lineage shapes BRCA-mediated phenotypes

N. Socci, B. Taylor, N. Schultz, 2019, Nature.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Carla Oliveira, Rachid Karam, Chimene Kesserwan, 2018, Human mutation.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Robert Huether, Rachid Karam, Charis Eng, 2018, Human mutation.

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

Ahmet Zehir, Levi Garraway, Colin C Pritchard, 2016, The New England journal of medicine.

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

M. Berger, C. Iacobuzio-Donahue, K. Offit, 2019, Human mutation.

Towards Automation of Germline Variant Curation in Clinical Cancer Genetics

Zarina Shameer, Kenneth Offit, Mark Robson, 2018, Genetics in Medicine.

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.

M. Daly, F. Couch, G. Rennert, 2016, Cancer discovery.

Identification of germline genetic mutations in patients with pancreatic cancer

K. Offit, M. Robson, R. Rau-Murthy, 2015, Cancer.

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

M. Ladanyi, C. Boland, Laura H. Tang, 2013, Modern Pathology.

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

M. Berger, K. Offit, M. Robson, 2019, JCO precision oncology.

Characterization of a novel germline BRCA1 splice variant, c.5332+4delA

M. Robson, M. Walsh, Liying Zhang, 2018, Breast Cancer Research and Treatment.

Brief Report: Prevalence and Preliminary Validation of Screening Criteria to Identify Carriers of Germline BAP1 Mutations.

M. Ladanyi, M. Zauderer, V. Rusch, 2019, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

A Recurrent ERCC 3 Truncating Mutation Confers Moderate Risk for Breast Cancer

M. Daly, F. Couch, G. Rennert, 2016 .

Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

M. Ladanyi, J. Reis-Filho, K. Offit, 2022, Genome Medicine.

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

Liliana Villafania, M. Ladanyi, A. Drilon, 2019, Cancer research.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Ying Wang, Christopher C. Porter, Anna L. Brown, 2019, Blood advances.

Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome

Z. Stadler, Yirong Li, Magan Trottier, 2020, Genes, chromosomes & cancer.

The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation.

M. Shah, R. Seruca, Soraia Melo, 2014, Mutation research.

A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing.

K. Offit, T. Kirchhoff, Liying Zhang, 2009, The Journal of molecular diagnostics : JMD.

Genetic Predictors of Response to Systemic Therapy in Esophagogastric Cancer.

David R. Jones, Benjamin E. Gross, Zachary J. Heins, 2018, Cancer discovery.

Frequency of actionable cancer predisposing germline mutations in patients with lung cancers.

David R. Jones, B. Taylor, M. Berger, 2018 .

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

Z. Stadler, A. Varghese, Yirong Li, 2020, Molecular genetics & genomic medicine.

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

C. Sempoux, H. Al-Ahmadie, Z. Zeng, 2012, Human pathology.

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

K. Offit, M. Robson, Z. Stadler, 2019, JCO precision oncology.

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

K. Offit, K. Jacobs, M. Yeager, 2013, PLoS genetics.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

K. Offit, S. Kulkarni, Kristy Lee, 2018, Human mutation.

The context-specific role of germline pathogenicity in tumorigenesis

B. Taylor, N. Schultz, M. Ladanyi, 2021, Nature Genetics.

Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making.

Zachary J. Heins, P. Kantoff, B. Taylor, 2017, JCO precision oncology.

NF-kappaB regulates androgen receptor expression and prostate cancer growth.

W. Gerald, H. Scher, H. Lilja, 2009, The American journal of pathology.

Immunohistochemical detection of ARID1A in colorectal carcinoma: loss of staining is associated with sporadic microsatellite unstable tumors with medullary histology and high TNM stage.

M. Gönen, E. Vakiani, M. Weiser, 2014, Human pathology.

Reliable Clinical MLH1 Promoter Hypermethylation Assessment using a High-Throughput Genome-Wide Methylation Array Platform.

Liliana Villafania, M. Ladanyi, M. Arcila, 2019, The Journal of molecular diagnostics : JMD.

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

K. Offit, M. Robson, Z. Stadler, 2014, Breast Cancer Research and Treatment.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

A. Spurdle, M. Olivier, Kristy Lee, 2020, medRxiv.

The emerging significance of secondary germline testing in cancer genomics

D. Mandelker, Liying Zhang, 2018, The Journal of pathology.

Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

Ahmet Zehir, Donavan T. Cheng, Kenneth Offit, 2017, BMC Medical Genomics.

Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination

J. Reis-Filho, K. Offit, B. Weigelt, 2021, npj Breast Cancer.

Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination

J. Reis-Filho, K. Offit, B. Weigelt, 2021, NPJ breast cancer.

Susceptibility Loci Associated with Specific and Shared Subtypes of Lymphoid Malignancies

A. Viale, A. Zelenetz, K. Offit, 2013, PLoS genetics.

Prevalence of Clonal Hematopoiesis Mutations in Tumor-Only Clinical Genomic Profiling of Solid Tumors

M. Ladanyi, M. Berger, J. Baselga, 2018, JAMA oncology.

Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing.

Liying Zhang, 2008, The Journal of molecular diagnostics : JMD.

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

Ahmet Zehir, Kenneth Offit, Barry S Taylor, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

N. Schultz, M. Ladanyi, M. Berger, 2021, Nature Cancer.

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

Ahmet Zehir, Sumit Middha, Gowtham Jayakumaran, 2017, JCO precision oncology.

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

M. Ladanyi, K. Offit, R. Motzer, 2018, JAMA oncology.

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

E. Vakiani, M. Weiser, L. Saltz, 2018, Modern Pathology.

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

M. Berger, K. Offit, I. Ostrovnaya, 2022, Clinical cancer research : an official journal of the American Association for Cancer Research.

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

P. Kantoff, M. Ladanyi, M. Berger, 2017, JAMA.

The androgen receptor directly targets the cellular Fas/FasL-associated death domain protein-like inhibitory protein gene to promote the androgen-independent growth of prostate cancer cells.

W. Gerald, Zhengxin Wang, Liying Zhang, 2005, Molecular endocrinology.

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

K. Offit, M. Robson, Z. Stadler, 2016, Breast Cancer Research and Treatment.

Tumor relevant germline findings in targeted tumor sequencing using matched normal DNA of 1,570 unselected cases.

Donavan T. Cheng, M. Ladanyi, M. Berger, 2015 .

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.

D. Altshuler, W. Foulkes, C. Hudis, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection

N. Schultz, M. Berger, C. Iacobuzio-Donahue, 2020, Clinical Cancer Research.

A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers

O. Ceyhan-Birsoy, Amanda Catchings, D. Mandelker, 2018, Breast Cancer Research and Treatment.

Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant

Laura H. Tang, Z. Stadler, E. Salo-Mullen, 2021, European Journal of Human Genetics.

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

Laura H. Tang, D. Coit, Z. Stadler, 2016, PloS one.

Germline SDHA mutations in children and adults with cancer

Ed Reznik, Alex Kentsis, Kenneth Offit, 2018, Cold Spring Harbor molecular case studies.

Pan-cancer microsatellite instability to predict for presence of Lynch syndrome.

B. Taylor, M. Berger, K. Offit, 2018, Journal of Clinical Oncology.

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

O. Basturk, E. Vakiani, M. Weiser, 2018, Familial Cancer.

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

M. Ladanyi, M. Berger, D. Solit, 2020, Cancer.

Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

Donavan T. Cheng, M. Ladanyi, M. Berger, 2017, BMC Medical Genomics.

BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line

M. Ladanyi, Liying Zhang, Arianne Morrison, 2015, PloS one.

Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis.

K. Offit, M. Robson, M. Weiser, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients

Liying Zhang, Jiayuan Li, Xuehua Zhu, 2016, PloS one.

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family

K. Offit, K. Cadoo, Liying Zhang, 2020, Familial Cancer.

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

M. Weiser, A. Gopalan, Z. Stadler, 2017, Familial Cancer.

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

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

A Comprehensive Comparison of Early-Onset and Average-Onset Colorectal Cancers.

B. Taylor, N. Schultz, K. Offit, 2021, Journal of the National Cancer Institute.

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family

M. Misyura, Liying Zhang, Ciyu Yang, 2023, Molecular genetics & genomic medicine.

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

Lik Hang Lee, E. Vakiani, M. Weiser, 2019, Modern Pathology.

Germline PALB2 mutation analysis in breast–pancreas cancer families

Kenneth Offit, Marc Tischkowitz, Robert Kurtz, 2011, Journal of Medical Genetics.

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response

M. Ladanyi, A. Toland, R. Kurtz, 2020, Human mutation.

The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer

Z. Stadler, Amanda Catchings, A. Arnold, 2021, Breast Cancer Research and Treatment.

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

E. Vakiani, M. Weiser, Z. Stadler, 2020, Familial Cancer.

Cancer predisposing germline mutations in patients (pts) with urothelial cancer (UC) of the renal pelvis (R-P), ureter (U) and bladder (B).

K. Offit, A. Hakimi, J. Coleman, 2017 .

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

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome

J. Reis-Filho, B. Weigelt, E. Brogi, 2021, Clinical Cancer Research.

cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation.

K. Offit, Clifford Hudis, K. Nafa, 2009, Mutation research.

O6-Methylguanine DNA Methyltransferase Status Does Not Predict Response or Resistance to Alkylating Agents in Well-Differentiated Pancreatic Neuroendocrine Tumors.

O. Basturk, N. Raj, D. Klimstra, 2017, Pancreas.

The expression and mutation of β-catenin in colorectal traditional serrated adenomas.

Liying Zhang, Lu-ping Wang, Guang-zhi Yang, 2012, Indian journal of pathology & microbiology.

Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes

K. Offit, M. Robson, Z. Stadler, 2011, Clinical genetics.