Janine Senz
A5081676809- Ovarian cancer diagnosis and treatment
- Endometrial and Cervical Cancer Treatments
- Cancer Genomics and Diagnostics
- Prostate Cancer Treatment and Research
- Congenital Diaphragmatic Hernia Studies
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Endometriosis Research and Treatment
- Wnt/β-catenin signaling in development and cancer
- Cancer-related gene regulation
- Sarcoma Diagnosis and Treatment
- Neonatal Respiratory Health Research
- Neuroendocrine Tumor Research Advances
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Cervical Cancer and HPV Research
- MicroRNA in disease regulation
- Helicobacter pylori-related gastroenterology studies
- BRCA gene mutations in cancer
- Kruppel-like factors research
- Circular RNAs in diseases
- Colorectal and Anal Carcinomas
- Chromatin Remodeling and Cancer
- Cancer Mechanisms and Therapy
University of British Columbia
2016-2025
Molecular Oncology (United States)
2020-2025
Terry Fox Research Institute
2025
Cancer Research Center
2025
BC Cancer Agency
2013-2023
Vancouver General Hospital
2004-2022
Genomics (United Kingdom)
2009-2020
University of Tübingen
2015
Synlab (Germany)
2015
Harvard University
2011
Ovarian clear-cell and endometrioid carcinomas may arise from endometriosis, but the molecular events involved in this transformation have not been described.We sequenced whole transcriptomes of 18 ovarian 1 carcinoma cell line found somatic mutations ARID1A (the AT-rich interactive domain 1A [SWI-like] gene) 6 samples. encodes BAF250a, a key component SWI–SNF chromatin remodeling complex. We an additional 210 second measured BAF250a expression by means immunohistochemical analysis 455...
Next-generation sequencing approaches have been used to investigate the genomes and transcriptomes of an oestrogen-receptor-α-positive metastatic lobular breast cancer from a patient — rather than cell line or xenograft over 9-year period between diagnosis primary tumour appearance metastasis. Comparison somatic non-synonymous coding mutations in metastasis same combined analysis genome transcriptome data provided insights into mutational evolution that can occur with disease progression....
BACKGROUND Classification of endometrial carcinomas (ECs) by morphologic features is irreproducible and imperfectly reflects tumor biology. The authors developed the Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE), a molecular classification system based on Genome Atlas genomic subgroups, sought to confirm both feasibility prognostic ability in new, large cohort ECs. METHODS Immunohistochemistry (IHC) presence or absence mismatch repair (MMR) proteins (to identify MMR...
Classification of endometrial carcinomas (ECs) by morphologic features is inconsistent, and yields limited prognostic predictive information. A new system for classification based on the molecular categories identified in The Cancer Genome Atlas proposed. Genomic data from (TCGA) support into four prognostically significant subgroups; we used TCGA set to develop surrogate assays that could replicate classification, but without need labor-intensive cost-prohibitive genomic methodology....
Granulosa-cell tumors (GCTs) are the most common type of malignant ovarian sex cord-stromal tumor (SCST). The pathogenesis these is unknown. Moreover, their histopathological diagnosis can be challenging, and there no curative treatment beyond surgery.We analyzed four adult-type GCTs using whole-transcriptome paired-end RNA sequencing. We identified putative GCT-specific mutations that were present in at least three samples but absent from transcriptomes 11 epithelial tumors, published human...
<h3>Importance</h3> E-cadherin (<i>CDH1</i>) is a cancer predisposition gene mutated in families meeting clinically defined hereditary diffuse gastric (HDGC). Reliable estimates of risk and spectrum germline mutation carriers are essential for management. For without<i>CDH1</i>mutations, genetic-based stratification has not been possible, resulting limited clinical options. <h3>Objectives</h3> To derive accurate breast risks in<i>CDH1</i>mutation determine if mutations other genes associated...
Gene fusions created by somatic genomic rearrangements are known to play an important role in the onset and development of some cancers, such as lymphomas sarcomas. RNA-Seq (whole transcriptome shotgun sequencing) is proving be a useful tool for discovery novel gene cancer transcriptomes. However, algorithmic methods using data remain underdeveloped. We have developed deFuse, computational method fusion tumor data. Unlike existing that use only unique best-hit alignments consider boundaries...
Endometriosis, defined as the presence of ectopic endometrial stroma and epithelium, affects approximately 10% reproductive-age women can cause pelvic pain infertility. Endometriotic lesions are considered to be benign inflammatory but have cancerlike features such local invasion resistance apoptosis.
Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and characterized an increased risk for lobular breast cancer.To determine whether recurring CDH1 occurred due to independent mutational events or common ancestry.Thirty-eight families diagnosed clinically with hereditary were accrued between November 2004 January 2006 analyzed as part of ongoing study at British Columbia Cancer Agency. Twenty-six had least 2 cases 1 case a person younger...
Germline truncating mutations in DICER1, an endoribonuclease the RNase III family that is essential for processing microRNAs, have been observed families with pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk nonepithelial ovarian tumors, notably sex cord-stromal tumors.We sequenced whole transcriptomes or exomes of 14 tumors noted closely clustered region DICER1 encoding IIIb domain four samples. We then this additional certain other queried effect...
High-grade serous ovarian cancer (HGSC) is characterized by poor outcome, often attributed to the emergence of treatment-resistant subclones. We sought measure degree genomic diversity within primary, untreated HGSCs examine natural state tumour evolution prior therapy. performed exome sequencing, copy number analysis, targeted amplicon deep sequencing and gene expression profiling on 31 spatially temporally separated HGSC specimens (six patients), including masses, distant metastases...
Abstract The classification of endometrial carcinomas is based on pathological assessment tumour cell type; the different types (endometrioid, serous, carcinosarcoma, mixed, undifferentiated, and clear cell) are associated with distinct molecular alterations. This current system for high‐grade subtypes, in particular distinction between endometrioid (EEC‐3) serous (ESC), limited its reproducibility prognostic abilities. Therefore, a search specific classifiers to improve carcinoma...
OVARIAN CARCINOMAS CONSIST OF AT LEAST FIVE DISTINCT DISEASES: high-grade serous, low-grade clear cell, endometrioid, and mucinous. Biomarker molecular characterization may represent a more biologically relevant basis for grouping treating this family of tumors, rather than site origin. Molecular characteristics have become the new standard clinical pathology, however development tailored type-specific therapies is hampered by failure basic research to recognize that model systems used study...
Many women with ovarian endometrioid carcinoma present concurrent endometrial carcinoma. Organ-confined and low-grade synchronous tumors (SEOs) clinically behave as independent primary rather than a single advanced-stage We used 18 SEOs to investigate the ancestral relationship between components. Based on both targeted exome sequencing, 17 of patient cases simultaneous cancer endometrium ovary from our series showed evidence clonal relationship, ie, tumor metastasis. Eleven fulfilled...
The aim of this study was to confirm the prognostic significance POLE exonuclease domain mutations (EDM) in endometrial carcinoma patients. In addition, effect treatment on POLE-mutated tumors assessed.A retrospective patient cohort 496 patients identified for targeted sequencing domain, yielding 406 evaluable tumors. Univariable and multivariable analyses were performed determine mutation status progression-free survival (PFS), disease-specific (DSS), overall (OS). Combining results from...
Abstract Motivation: Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (SNV) discovery in cancer. NGS produces millions of short sequence reads that, once aligned to a reference sequence, can be interpreted for the presence SNVs. Although tools exist SNV from data, none are specifically suited work with data tumors, where altered ploidy tumor cellularity impact statistical expectations discovery. Results: We developed three implementations...
Germline CDH1 point or small frameshift mutations can be identified in 30–50% of hereditary diffuse gastric cancer (HDGC) families. We hypothesized that genomic rearrangements would found HDGC and 160 families with either two cancers first-degree relatives at least one (DGC) diagnosed before age 50, three more DGC close any age. Sixty-seven carried germline mutations. screened DNA from the 93 mutation negative probands for large by Multiplex Ligation-Dependent Probe Amplification. Potential...
Sex cord-stromal tumors (SCSTs) of the ovary are relatively uncommon tumors. Diagnosis SCST rests primarily on histomorphology these tumors, and with an atypical or unconventional appearance can pose diagnostic challenges. Previously, we had identified FOXL2 (402C→G) mutation as being characteristic adult granulosa cell (aGCTs). However, molecular screening for this is not always possible adds time cost to process. In study, investigated potential use immunostaining formalin-fixed...
Abstract Mucinous ovarian carcinomas ( MCs ) typically do not respond to current conventional therapy. We have previously demonstrated amplification of HER2 in 6 33 (18.2%) mucinous and presented anecdotal evidence response with ‐targeted treatment a small series women recurrent ‐amplified +) MC . Here, we explore KRAS mutation status an independent cohort 189 199 borderline tumours MBOTs their association clinicopathological features. was assessed by immunohistochemistry IHC ), FISH , CISH...