Nancy Hamel
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View article: <i>PMS2</i> <scp>c.2117del</scp> ( <scp>p.Lys706Serfs*19</scp> ) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada
<i>PMS2</i> <span>c.2117del</span> ( <span>p.Lys706Serfs*19</span> ) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada Open
We identified a PMS2 variant (NM_000535.7:c.2117del, p.Lys706Serfs*19) in 22 French‐Canadian (FC) families from Quebec with Lynch syndrome (LS; n = 21) or constitutional mismatch repair deficiency (CMMRD; n = 1). We aimed to (a) confirm it…
View article: Targeted gene transfer into developmentally defined cell populations of the primate brain
Targeted gene transfer into developmentally defined cell populations of the primate brain Open
The primate brain possesses unique physiological and developmental features whose systematic investigation is hampered by a paucity of transgenic germline models and tools. Here, we present a minimally invasive method to introduce transgen…
View article: Using the ancestral recombination graph to study the history of rare variants in founder populations
Using the ancestral recombination graph to study the history of rare variants in founder populations Open
Gene genealogies represent the ancestry of a sample and are often encoded as ancestral recombination graphs (ARG). It has recently become possible to infer these gene genealogies from sequencing or genotyping data and use them for evolutio…
View article: Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer Open
Importance Between 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recomm…
View article: Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy Open
Background Colorectal neoplasia is one of the most common tumors affecting Western populations. Methods In this study we used a custom amplicon sequencing platform and an in-house bioinformatic pipeline to study constitutional DNA from two…
View article: Supplementary Methods from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Methods from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Methods PDF file 61K, This document describes the methods for all supplemental data
View article: Supplementary Figure 2 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 2 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 2 PDF file 78K, This figure depicts the assay used to visualize repair proteins at DNA double-strand breaks
View article: Supplementary Figure 3 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 3 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 3 PDF file 2065K, This figure provides functional data for BRCA1 V1736A and an example of tumor for LOH studies
View article: Supplementary Table 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Table 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Table 1 PDF file 38K, This table summarizes all additional V1736A pedigrees
View article: Supplementary Figure 3 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 3 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 3 PDF file 2065K, This figure provides functional data for BRCA1 V1736A and an example of tumor for LOH studies
View article: Data from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Data from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presum…
View article: Supplementary Figure 2 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 2 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 2 PDF file 78K, This figure depicts the assay used to visualize repair proteins at DNA double-strand breaks
View article: Data from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Data from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presum…
View article: Supplementary Figure 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 1 PDF file 108K, This document provides the raw data for V1736A genotyping used in LOH experiments
View article: Supplementary Table 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Table 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Table 1 PDF file 38K, This table summarizes all additional V1736A pedigrees
View article: Supplementary Methods from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Methods from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Methods PDF file 61K, This document describes the methods for all supplemental data
View article: Supplementary Figure 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer
Supplementary Figure 1 from Biallelic Deleterious <i>BRCA1</i> Mutations in a Woman with Early-Onset Ovarian Cancer Open
Supplementary Figure 1 PDF file 108K, This document provides the raw data for V1736A genotyping used in LOH experiments
View article: Data from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma
Data from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma Open
RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer predisposition re…
View article: Figure S1 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S1 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Response of cancer cells to epigenetic targeting molecules
View article: Figure S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Variable responses to epigenetic drugs
View article: Supplementary Figure Legends and Table S1, S2, S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Supplementary Figure Legends and Table S1, S2, S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Table S1: List of shRNA plasmids. Table S2: List of primers S3: Mutations in ovarian and lung cancer cell lines.
View article: Figure S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
OTX015 transcriptionally regulates a network of genes involved in cell signaling
View article: Data from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Data from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
The antitumor activity of bromodomain and extraterminal motif protein inhibitors (BETi) has been demonstrated across numerous types of cancer. As such, these inhibitors are currently undergoing widespread clinical evaluation. However, pred…
View article: Supplementary Table 2 from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma
Supplementary Table 2 from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma Open
'Supplementary Table S2- Somatic mutations identified in the tumors from individuals III.6; III.7 and III.8 in family 1 and individual III.1 in family 2 among 193 DNA repair genes.'
View article: Supplementary Figure Legends and Table S1, S2, S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Supplementary Figure Legends and Table S1, S2, S3 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Table S1: List of shRNA plasmids. Table S2: List of primers S3: Mutations in ovarian and lung cancer cell lines.
View article: Table S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Table S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
RNAseq data for SCCOHT1 and OVCAR8 cell lines
View article: Supplementary Table 2 from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma
Supplementary Table 2 from Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma Open
'Supplementary Table S2- Somatic mutations identified in the tumors from individuals III.6; III.7 and III.8 in family 1 and individual III.1 in family 2 among 193 DNA repair genes.'
View article: Figure S2 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S2 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Response of sensitive and resistant cells to BETi
View article: Figure S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S4 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
OTX015 transcriptionally regulates a network of genes involved in cell signaling
View article: Figure S2 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors
Figure S2 from SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors Open
Response of sensitive and resistant cells to BETi