Patrick J. Morrison
YOU?
Author Swipe
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Our findings indicate that noncanonical splice variants may account for approximately 3% of families with undiagnosed FTAAD, highlighting the importance of incorporating analysis of introns and confirmatory RNA testing into genetic testing…
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Purpose To quantify the impact of non-canonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and Familial Thoracic Aortic Aneurysm Disease (FTAAD). Meth…
View article: Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE Open
Background Carriers of germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are at higher risk of developing breast and ovarian cancer than the general population. It is unclear if these PVs influence other breast or ovarian can…
View article: Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Detailed Analysis of <span><i>ITPR1</i></span> Missense Variants Guides Diagnostics and Therapeutic Design Open
Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP 3 ) receptor type 1 (IP 3 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar a…
#3697 FAMILIAL PAPILLARY RENAL CELL CARCINOMA: A CASE REPORT Open
Background and Aims The incidence of Renal Cell Carcinoma (RCC) is the 9th commonest cancer worldwide. It originates from the renal tubular epithelium and to date has been subclassified into five different categories. Of which, papillary c…
View article: Epigenotype–genotype–phenotype correlations in <i>SETD1A</i> and <i>SETD2</i> chromatin disorders
Epigenotype–genotype–phenotype correlations in <i>SETD1A</i> and <i>SETD2</i> chromatin disorders Open
Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterized by developmental delay and congenital anomalies. …
Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out Open
I read with interest the report by Happle and Eyerich (2022) describing three examples with apparent sex-limited autosomal dominant inheritance. They have shone a torch into an area of genetics not well classified or researched until now. …
View article: Data from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Data from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up Open
The CAPP2 trial investigated the long-term effects of aspirin and resistant starch on cancer incidence in patients with Lynch syndrome (LS). Participants with LS were randomized double-blind to 30 g resistant starch (RS) daily or placebo f…
View article: Data from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Data from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up Open
The CAPP2 trial investigated the long-term effects of aspirin and resistant starch on cancer incidence in patients with Lynch syndrome (LS). Participants with LS were randomized double-blind to 30 g resistant starch (RS) daily or placebo f…
View article: Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up Open
Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
View article: Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up Open
Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
View article: Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
PDF file - 90K
View article: Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 1. The 3,248 SNPs included in the study
View article: Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 3. Results of the statistical analyses of SNPs from project 12 in BRCA-mutation carriers affected or non-affected with breast cancer and according to their estrogen receptor status.
View article: Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 1. The 3,248 SNPs included in the study
View article: Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer an…
View article: Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the e…
View article: Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 2. Results of the statistical analyses in BRCA mutation carriers.
View article: Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
PDF file - 90K
View article: Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 2. Results of the statistical analyses in BRCA mutation carriers.
View article: Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 3. Results of the statistical analyses of SNPs from project 12 in BRCA-mutation carriers affected or non-affected with breast cancer and according to their estrogen receptor status.
View article: Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer an…
View article: Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the e…
Data from BRCA1 and c-Myc Associate to Transcriptionally Repress Psoriasin, a DNA Damage–Inducible Gene Open
Evidence is accumulating to suggest that some of the diverse functions associated with BRCA1 may relate to its ability to transcriptionally regulate key downstream target genes. Here, we identify S100A7 (psoriasin), S100A8, and S100A9, mem…
View article: Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide…
View article: Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Data from BRCA1 and c-Myc Associate to Transcriptionally Repress Psoriasin, a DNA Damage–Inducible Gene Open
Evidence is accumulating to suggest that some of the diverse functions associated with BRCA1 may relate to its ability to transcriptionally regulate key downstream target genes. Here, we identify S100A7 (psoriasin), S100A8, and S100A9, mem…