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Your search keyword '"Nikki Graham"' showing total 6 results
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6 results on '"Nikki Graham"'

1. Supplementary Materials and Methods, Tables 1-5 from Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer

Author

Fergus J. Couch, Xianshu Wang, Heli Nevanlinna, Drakoulis Yannoukakos, Jenny Chang-Claude, Douglas F. Easton, Paul Pharoah, Ute Hamann, Gianluca Severi, Isabel dos Santos Silva, Diether Lambrechts, Grant W. Montgomery, Nicholas G. Martin, Arto Mannermaa, Sara Margolin, Sarah-Jane Dawson, Fiona M. Blows, Jianjun Liu, Astrid Irwanto, Carl Blomqvist, Dario Greco, Jonathan Beesley, Veli-Matti Kosma, Ian Tomlinson, Senno Verhoef, Laura Baglietto, Graham G. Giles, Olivia Fletcher, Julian Peto, Hilde Janssen, Erik Van Limbergen, Yon-Dschun Ko, Arja Jukkola-Vuorinen, Katri Pylkäs, Swati Kulkarni, Foluso Ademuyiwa, Thomas Dünnebier, Asta Försti, Thomas Rüdiger, JoEllen Weaver, Eric Ross, Harsh Pathak, Robert B. Diasio, Zachary Fredericksen, Janet E. Olson, Rosemary Balleine, Christine L. Clarke, George Fountzilas, Athanasios M. Dimopoulos, Dimitrios Pectasides, Florentia Fostira, Irene Konstantopoulou, Hans-Peter Sinn, Judith Heinz, Dieter Flesch-Janys, Stephan Nickels, Rebecca Hein, Nikki Graham, Lorraine Durcan, Susan M. Gerty, William J. Tapper, Arif B. Ekici, Rüdiger Schulz-Wendtland, Matthias W. Beckmann, Arndt Hartmann, Elinor Sawyer, Simon S. Cross, Angela Cox, Marjanka K. Schmidt, Hiltrud Brauch, Robert Winqvist, Christine Ambrosone, Andrew K. Godwin, Jane E. Carpenter, Diana Eccles, Penelope Miron, Peter A. Fasching, Curtis Olswold, Timothy Lesnick, Susan Slager, Adam M. Lee, Celine M. Vachon, and Kristen N. Stevens

Abstract

PDDF file - 167K

Published
2023

2. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Author

Eleanor G. Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman, Christine Gast, Sarah Ennis, Reuben J. Pengelly, David J. Bunyan, and Matthew Lyon

Subjects
Adult, Collagen Type IV, Male, 0301 basic medicine, Candidate gene, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, 030232 urology & nephrology, Gene mutation, urologic and male genital diseases, medicine.disease_cause, Nephropathy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Focal segmental glomerulosclerosis, medicine, Humans, Family history, Child, Aged, Aged, 80 and over, Transplantation, Mutation, Glomerulosclerosis, Focal Segmental, business.industry, Glomerular basement membrane, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, DNA, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Child, Preschool, Female, business, Nephrotic syndrome
Abstract

Background Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin basement membrane nephropathy (TBMN). We aimed to investigate the distribution of gene mutations in adult patients with primary FSGS/SRNS by targeted next generation sequencing (NGS). Methods Eighty-one adults from 76 families were recruited; 24 families had a history of renal disease. A targeted NGS panel was designed and applied, covering 39 genes implicated in FSGS/SRNS including COL4A3-5. Results Confirmed pathogenic mutations were found in 10 patients (6 with family history) from 9 families (diagnostic rate 12%). Probably pathogenic mutations were identified in an additional six patients (combined diagnostic rate 20%). Definitely pathogenic mutations were identified in 22% of patients with family history and 10% without. Mutations in COL4A3-5 were present in eight patients from six families, representing 56% of definitely pathogenic mutations, and establishing a diagnosis of AD in six patients and TBMN in two patients. Collagen mutations were identified in 38% of families with familial FSGS, and 3% with sporadic FSGS, with over half the mutations occurring in COL4A5. Patients with collagen mutations were younger at presentation and more likely to have family history, haematuria and glomerular basement membrane abnormalities. Conclusions We show that collagen IV mutations, including COL4A5, frequently underlie FSGS and should be considered, particularly with a positive family history. Targeted NGS improves diagnostic efficiency by investigating many candidate genes in parallel.

Published
2015

3. 25-hydroxyvitamin D response to antenatal cholecalciferol supplementation is associated with common vitamin D related genetic variants: findings from the MAVIDOS trial

Author

Rebecca Moon, Nicholas Harvey, Cyrus Cooper, Stefania D'Angelo, Elizabeth Curtis, Sarah Crozier, Sian Robinson, Nikki Graham, John Holloway, Nicholas Bishop, Stephen Kennedy, Aris Papageorghiou, Inez Schoenmakers, Robert Fraser, Saurabh Gandhi, Ann Prentice, Hazel Inskip, and Kassim Javaid

Subjects
medicine.medical_specialty, chemistry.chemical_compound, Endocrinology, chemistry, business.industry, Internal medicine, medicine, Vitamin D and neurology, Genetic variants, General Medicine, Cholecalciferol, business
Published
2017

4. 259. 25-HYDROXYVITAMIN D RESPONSE TO GESTATIONAL CHOLECALCIFEROL SUPPLEMENTATION IS ASSOCIATED WITH COMMON VITAMIN D RELATED GENETIC VARIANTS: FINDINGS FROM THE MAVIDOS TRIAL

Author

Robert Fraser, Rebecca J Moon, Hazel Inskip, Elizabeth M Curtis, N C Harvey, S D'Angelo, C Cooper, Sarah Crozier, Ann Prentice, S V Gandhi, Inez Schoenmakers, Stephen Kennedy, Aris T. Papageorghiou, Nick Bishop, Nikki Graham, Grp Mavidost., Sian M. Robinson, John W. Holloway, and Muhammad Javaid

Subjects
medicine.medical_specialty, business.industry, Genetic variants, chemistry.chemical_compound, Endocrinology, Rheumatology, chemistry, Internal medicine, medicine, Vitamin D and neurology, Gestation, Pharmacology (medical), business, Cholecalciferol
Published
2017

5. Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

Author

Debbie A Lawlor, David I. W. Phillips, Hamid Rassoulian, Shah Ebrahim, Diana Eccles, L. Haddad, Stephen E. Humphries, Xiao-he Chen, Julie Sillibourne, Shu Ye, George Davey Smith, Matt J. Smith, Cyrus Cooper, Mohammed A. Aldahmesh, Patricia J. Briggs, Roslyn A. Whittall, Khalid K. Alharbi, Iain A. Simpson, Nikki Graham, Nicola J. Ball, Emmanuel Spanakis, and Ian N.M. Day

Subjects
Silent mutation, Male, Population, DNA Mutational Analysis, Genes, BRCA1, Single-nucleotide polymorphism, Breast Neoplasms, Biology, medicine.disease_cause, Sensitivity and Specificity, Hyperlipoproteinemia Type II, Exon, Genetics, medicine, Methods, Coding region, Humans, splice, education, Genetics (clinical), Mutation, education.field_of_study, Polymorphism, Genetic, Molecular biology, CpG site, Receptors, LDL, Population Surveillance, Electrophoresis, Polyacrylamide Gel, Female
Abstract

We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve suitable cost efficiency and throughput. The sensitivity was tested in blind trials using 54 amplicons representing the BRCA1 coding region and a panel of 94 unrelated family breast cancer risk consultands previously screened in a clinical diagnostic laboratory. All 10 common polymorphisms, 15/15 previously identified disease-causing mutations, and three previously untested single base changes were identified. Assays of LDLR exons 3 and 8 were validated in 460 familial hypercholesteremics and detected 8/9 known variants. We then applied the exon 3 assay in several DNA banks representing ∼8000 subjects with known cholesterol values and applied both assays in one DNA bank (n = 3600). In exon 3 we identified one previously reported moderate mutation, P84S (n = 1), also associated with moderate hypercholesteremia in this subject; an unreported silent variant, N76N (n = 1); and known severe hypercholesteremia splice mutation 313+1G→A (n = 2). Around exon 8 we identified a paucimorphism (n = 35) at the splice site 1061–8T→C (known to be in complete linkage disequilibrium with T705I) and unreported sequence variants 1186+11G→A (n = 1) and D335N G→A (n = 1). The cholesterol value for D335N was on the 96.2 percentile and for T705I, 2/35 carriers were above the 99th percentile. Thus, variants with predicted severe, moderate, and no effect were identified at the population level. In contrast with case collections, CpG mutations predominated. MeltMADGE will enable definition of the full population spectrum of rare, paucimorphic, severe, moderate (forme fruste), and silent mutations and effects.

Published
2016

6. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Author

Michael F. Press, Asta Försti, Elisa V. Bandera, Hans-Peter Sinn, David Van Den Berg, Foluso O. Ademuyiwa, Veli-Matti Kosma, Loic Le Marchand, Nicholas G. Martin, Douglas F. Easton, Susan E. Hankinson, Timothy R. Rebbeck, Leslie Bernstein, Florentia Fostira, Jenny Chang-Claude, Andrea Holbrook, Christine B. Ambrosone, Arif B. Ekici, Shahana Ahmed, Laura Baglietto, Stephen J. Chanock, Astrid Irwanto, Regina G. Ziegler, Andrew K. Godwin, Julie R. Palmer, Lucy Xia, Diether Lambrechts, Xin Sheng, Heli Nevanlinna, William J. Tapper, Christopher K. Edlund, Sue A. Ingles, Hans Wildiers, Diana Eccles, Julian Peto, Rudolf Kaaks, Federico Canzian, Els Wauters, Penelope Miron, Daniel O. Stram, Sara Margolin, Afshan Siddiq, Sara Lindström, Thomas Dünnebier, Ian Tomlinson, Gary K. Chen, Matthias W. Beckmann, Wei Zheng, Lisa B. Signorello, Adam M. Lee, Frans B. L. Hogervorst, Grant W. Montgomery, Rebecca Hein, Alison M. Dunning, Rosemary L. Balleine, Athanasios M. Dimopoulos, Loreall Pooler, Eric A. Ross, Arja Jukkola-Vuorinen, Peter A. Fasching, Laurence N. Kolonel, Irene Konstantopoulou, Jianjun Liu, Carl Blomqvist, Timothy G. Lesnick, Graham G. Giles, Lynn Rosenberg, Christine L. Clarke, Arndt Hartmann, Gianluca Severi, Charles M. Perou, Thomas Rüdiger, Sarah J. Nyante, Paul J. Goodfellow, Angela Cox, Esther M. John, Heather Spencer Feigelson, Robert N. Hoover, Fergus J. Couch, Ute Hamann, Daniel I. Chasman, Brian E. Henderson, Celine M. Vachon, Stephan Nickels, Lorraine Durcan, Jane Carpenter, Swati Kulkarni, Xianshu Wang, Susan L. Slager, Jorge L. Rodriguez-Gil, William J. Blot, Elinor J. Sawyer, Isabel dos Santos Silva, JoEllen Weaver, Christopher A. Haiman, S Gerty, Christine D. Berg, Julie E. Buring, Katri Pylkäs, Peggy Wan, Robert B. Diasio, Marjanka K. Schmidt, Nikki Graham, Rüdiger Schulz-Wendtland, Drakoulis Yannoukakos, Jennifer Ivanovich, Nicola F. Johnson, Lisa A. Carey, Hiltrud Brauch, David J. Hunter, Curtis Olswold, Sandra L. Deming, Harsh B. Pathak, Fredrick R. Schumacher, W. Ryan Driver, Robert C. Millikan, Dimitrios Pectasides, George Fountzilas, Simon S. Cross, Dieter Flesch-Janys, Melissa C. Southey, Robert Winqvist, Paul D.P. Pharoah, Dario Greco, Judith Heinz, Jennifer J. Hu, Peter Kraft, Arto Mannermaa, Kristen N. Stevens, and Yon Ko

Subjects
Oncology, medicine.medical_specialty, Genotype, medicine.drug_class, European Continental Ancestry Group, Estrogen receptor, Locus (genetics), Genome-wide association study, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Breast cancer, Internal medicine, Receptors, medicine, Genetics, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, Telomerase, 030304 developmental biology, Aged, African Americans, 0303 health sciences, Case-Control Studies, Female, Genome-Wide Association Study, Membrane Proteins, Middle Aged, Neoplasm Proteins, Receptors, Estrogen, Genetic Loci, Single Nucleotide, medicine.disease, Estrogen, 3. Good health, Black or African American, 030220 oncology & carcinogenesis, Immunology
Abstract

Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10(-9)), particularly in younger women (

Published
2016

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