Julia A. Elvin

Research Field

5 - SMARCA4 INACTIVATION DEFINES A SUBSET OF UNDIFFERENTIATED UTERINE SARCOMAS WITH RHABDOID AND SMALL CELL FEATURES AND GERMLINE MUTATION ASSOCIATION

Douglas I. Lin Julia A. Elvin

SMARCA4

10.26226/morressier.5d2ee8e71e09a6f49485a8e7

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Supplemental Figures from High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis

Ryan J. Hartmaier Lee A. Albacker Juliann Chmielecki Mark Bailey Jie He

This file contains: cellularity distribution, exon coverage distribution, variant filtering flow chart, detailed disease distributions, FMvTCGA long tail plots by local/metastatic disease, local disease versus plural fluid in FM lung adeno, adenoid cystic carcinoma tile plot, summary of known fusions observed in novel diseases, ERBB2 tile plot in cervical cancers, TCGA MET CN to expression correlation, tile plot of AKT1 E17K colorectal tumors, and distribution of alterations in tumor suppressor genes.

10.1158/0008-5472.22418103.v1

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Supplemental Tables from High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis

Ryan J. Hartmaier Lee A. Albacker Juliann Chmielecki Mark Bailey Jie He

This file contains supplemental tables S1-S7. The data contained are as follows: (Table S1) Gene lists on the FoundationOne assay, (Table S2) Sample counts per disease, (Table S3) Foundation Medicine sample counts compared to TCGA sample counts, (Table S4) Genes with altered frequencies between local and metastatic disease, (Table S5) Merged MutationAssessor and PolyPhen-2 outputs, (Table S6) Enrichment of NOTCH1 alterations across diseases, (Table S7) Curated list of tumor suppressor genes on the FoundationOne assay.

Table (database)

Profiling (computer programming)

10.1158/0008-5472.22418097

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16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels

Cancer Genetics (2023)

Deborah Ritter Eric J. Duncavage Julia A. Elvin Garrett M. Frampton Dean C. Pavlick

10.1016/j.cancergen.2023.08.024

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Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2)

Nature Communications (2021)

Elizabeth M. Swisher Tanya T. Kwan Amit M. Oza Anna V. Tinker Isabelle Ray‐Coquard

Abstract ARIEL2 (NCT01891344) is a single-arm, open-label phase 2 study of the PARP inhibitor (PARPi) rucaparib in relapsed high-grade ovarian carcinoma. In this post hoc exploratory biomarker analysis of pre- and post-platinum ARIEL2 samples, RAD51C and RAD51D mutations and high-level BRCA1 promoter methylation predict response to rucaparib, similar to BRCA1 / BRCA2 mutations. BRCA1 methylation loss may be a major cross-resistance mechanism to platinum and PARPi. Genomic scars associated with homologous recombination deficiency are irreversible, persisting even as platinum resistance develops, and therefore are predictive of rucaparib response only in platinum-sensitive disease. The RAS, AKT, and cell cycle pathways may be additional modulators of PARPi sensitivity.

PARP inhibitor

10.1038/s41467-021-22582-6

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Mutational landscape of metastatic cancers discovered from prospective clinical sequencing at community practice cancer program

Annals of Oncology (2018)

Ricardo H. Álvarez Amber Moran Eyal Meiri Arturo Loaiza‐Bonilla A.R. Parikh

10.1093/annonc/mdy424.089

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Figure S1, Figure S2, Table S1 from Anaplastic Lymphoma Kinase Mutation (ALK F1174C) in Small Cell Carcinoma of the Prostate and Molecular Response to Alectinib

Benedito A. Carneiro Sahithi Pamarthy Ami N. Shah Vinay Sagar Kenji Unno

Figure S1 ALK genomic alterations and mRNA expression in human cancers. Figure S2 Efficacy of ALK inhibitors in prostate cancer cell lines. Table S1 Summary of mutations and their percentages identified by ctDNA profiling.

Alectinib

10.1158/1078-0432.22474914

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Supplemental figure legend from Profiling of 149 Salivary Duct Carcinomas, Carcinoma Ex Pleomorphic Adenomas, and Adenocarcinomas, Not Otherwise Specified Reveals Actionable Genomic Alterations

Kai Wang Jeffery S. Russell Jessica D. McDermott Julia A. Elvin Depinder Khaira

This is the legend for the supplemental figure

Salivary duct carcinoma

Legend

10.1158/1078-0432.22460490.v1

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