Search

Your search keyword '"Nikki Graham"' showing total 9 results
Start Over Author "Nikki Graham"
9 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

7. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author

Curtis Olswold, Daniel I. Chasman, Brian E. Henderson, Peter Lichtner, Jennifer Stone, Rita K. Schmutzler, Julian Peto, Sandra L. Deming, Fredrick R. Schumacher, William J. Tapper, Gary K. Chen, Constance Chen, Kim Overvad, Diana Eccles, Nicholas G. Martin, Elio Riboli, Celine M. Vachon, Daniel J. Park, Robert C. Millikan, Timothy G. Lesnick, Matthias W. Beckmann, Gerhard A. Coetzee, Gianluca Severi, Domenico Palli, Clare Turnbull, Jenny Chang-Claude, Montserrat Garcia-Closas, Douglas F. Easton, Carla H. van Gils, Christine B. Ambrosone, Zhaoming Wang, Françoise Clavel-Chapelon, Michael F. Press, Dieter Flesch-Janys, Astrid Irwanto, Claudine Isaacs, Paul M. Ridker, Esther M. John, Wei Zheng, Nazneen Rahman, Peter Kraft, David Van Den Berg, Elisa V. Bandera, André G. Uitterlinden, Susan E. Hankinson, Loic Le Marchand, Sue A. Ingles, Arif B. Ekici, Laurence N. Kolonel, Penelope Miron, Alfons Meindl, Quinten Waisfisz, Eric A. Ross, Jianjun Liu, S Gerty, Kristen N. Stevens, Melissa C. Southey, Adam M. Lee, Daniele Campa, Kyriaki Michailidou, Regina G. Ziegler, Robert N. Hoover, Quang M. Bui, Jennifer J. Hu, Laura Baglietto, Per Hall, Mia M. Gaudet, Alison M. Dunning, Julie E. Buring, Paul D.P. Pharoah, Jorge L. Rodriguez-Gil, Jonine D. Figueroa, Afshan Siddiq, Eiliv Lund, Arndt Hartmann, Fergus J. Couch, Sarah J. Nyante, Peter A. Fasching, Louise A. Brinton, Daniel F. Schmidt, Sara Lindström, Julie R. Palmer, Graham G. Giles, Olivia Fletcher, Rebecca Hein, Lynne R. Wilkens, Carmel Apicella, Christine D. Berg, Saundra S. Buys, Angela Cox, Kevin B. Jacobs, Heather Spencer Feigelson, Fernando Rivadeneira, W. Ryan Diver, Heli Nevanlinna, Isabel dos Santos Silva, Christina Justenhoven, Hanne Meijers-Heijboer, JoEllen Weaver, Stefan Nickels, Daniel O. Stram, Pilar Amiano, Carl Blomqvist, Lorraine Durcan, Jane Carpenter, Kamila Czene, John L. Hopper, Robert B. Diasio, Rudolf Kaaks, Nikki Graham, Grant W. Montgomery, Enes Makalic, Kristine R. Monroe, Lars Beckmann, Malin Sund, Christopher A. Haiman, Scott Huntsman, Stephen J. Chanock, Xianshu Wang, Catriona McLean, Susan L. Slager, David J. Hunter, Kristiina Aittomäki, Hans-Peter Sinn, Harsh B. Pathak, Elad Ziv, Mark Lathrop, Bertram Müller-Myhsok, Leslie Bernstein, I-Min Lee, Simon S. Cross, Ruth C. Travis, Suhn K. Rhie, Hiltrud Brauch, Rüdiger Schulz-Wendtland, Michael J. Thun, Dario Greco, Judith Heinz, Andrew K. Godwin, Laura Fejerman, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Human Genetics, Internal Medicine, Human genetics, and CCA - Oncogenesis

Subjects
Oncology, genetic association, Hispanic, Estrogen receptor, Genome-wide association study, Bioinformatics, genetic risk, Prostate cancer, 0302 clinical medicine, Japan, single nucleotide polymorphism, Genotype, genetic variability, African American, Genetics (clinical), Triple-negative breast cancer, 0303 health sciences, education.field_of_study, Association Studies Articles, article, General Medicine, prostate cancer, 3. Good health, Europe, female, Receptors, Estrogen, priority journal, 030220 oncology & carcinogenesis, chromosome 20q, medicine.medical_specialty, gene locus, Population, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, controlled study, human, education, Molecular Biology, chromosome 6q, computer model, gene replication, genetic susceptibility, major clinical study, triple negative breast cancer, 030304 developmental biology, medicine.disease, Genome-Wide Association Study
Abstract

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

Published
2012

8. Common breast cancer susceptibility loci are associated with triple-negative breast cancer

Author

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

Subjects
Oncology, Adult, Risk, Cancer Research, medicine.medical_specialty, European Continental Ancestry Group, Genome-wide association study, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Chromosomes, White People, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Breast cancer, Internal medicine, Receptors, Epidemiology of cancer, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Polymorphism, Young adult, skin and connective tissue diseases, Progesterone, Triple-negative breast cancer, 030304 developmental biology, Aged, 0303 health sciences, Pair 19, Case-control study, Case-Control Studies, Chromosomes, Human, Pair 19, Female, Middle Aged, Receptors, Estrogen, Receptors, Progesterone, Single Nucleotide, medicine.disease, Estrogen, 3. Good health, TOX3, 030220 oncology & carcinogenesis, Human
Abstract

Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer. Cancer Res; 71(19); 6240–9. ©2011 AACR.

Published
2011

9. Genome-wide association analysis identifies three new breast cancer susceptibility loci

Author

William J. Tapper, Frederik Marmé, Natalia Bogdanova, Joe Dennis, Pei-Ei Wu, Vesa Kataja, Michael Jones, Dong-Young Noh, Xiaoqing Chen, Thilo Dörk, Javier Benitez, Arif B. Ekici, André G. Uitterlinden, Karin Leunen, Chen-Yang Shen, Esther M. John, Sune F. Nielsen, Adam M. Lee, Arto Mannermaa, Dieter Flesch-Janys, Diana Eccles, Don M. Conroy, Quinten Waisfisz, Sara Margolin, Hoda Anton-Culver, Peter Devilee, Ans M.W. van den Ouweland, Ruth Swann, Chia-Ni Hsiung, Peter Schürmann, Per Hall, Bertram Müller-Myhsok, Jonathan Beesley, Graham G. Giles, Qin Wang, Mitul Shah, Matthias W. Beckmann, Veli-Matti Kosma, Carmel Apicella, Henrik Flyger, Daniel F. Schmidt, Gianluca Severi, Kristen N. Stevens, Paolo Peterlongo, Helen Tsimiklis, Betül T. Yesilyurt, Irene L. Andrulis, Louiza S. Velentzis, Peter A. Fasching, Jyh-Cherng Yu, Caroline Baynes, Jenny Chang-Claude, Craig Luccarini, Leslie Bernstein, Katarzyna Durda, Antoinette Hollestelle, Catriona McLean, Georgia Chenevix-Trench, Rebecca Hein, Heli Nevanlinna, Arja Jukkola-Vuorinen, Jolanta Lissowska, Rita K. Schmutzler, Giuseppe Floris, Christa Stegmaier, David J. Hunter, Kristiina Aittomäki, Johann H. Karstens, Alan Ashworth, Alfons Meindl, Emilie Cordina-Duverger, Stefan Nickels, Julian Peto, Jan Lubinski, Børge G. Nordestgaard, Ed Dicks, Stig E. Bojesen, Christie J. van Asperen, Malcolm W.R. Reed, Michael J. Kerin, Annika Lindblom, Barbara Burwinkel, Kristy Driver, Darya Prokofieva, Montserrat Garcia-Closas, Thomas Brüning, Christina Justenhoven, Nazneen Rahman, Annegien Broeks, Hermann Brenner, Hiltrud Brauch, Laura Baglietto, Yuri I. Rogov, Clare Turnbull, A Jakubowska, Marina Bermisheva, Heiko Müller, Hanne Meijers-Heijboer, Anne-Lise Børrensen-Dale, Pascal Guénel, Stephen J. Chanock, Siranoush Manoukian, Melissa C. Southey, Daniel J. Park, M. Rosario Alonso, Christof Sohn, Shan Wang-Gohrke, Melanie Maranian, Shahana Ahmed, Jonine D. Figueroa, Robert Winqvist, Jianjun Liu, Suthee Rattanamongkongul, Diether Lambrechts, Andreas Schneeweiss, Paul D.P. Pharoah, Alexander Miron, Ursula Eilber, Angela Cox, Anna González-Neira, Minh Bui, Frans B. L. Hogervorst, Peter Hillemanns, Peter Lichtner, Maartje J. Hooning, Roger L. Milne, Alison M. Dunning, Fernando Rivadeneira, Ian Tomlinson, Thérèse Truong, Volker Arndt, Rogier A. Oldenburg, Grethe I. Grenaker Alnæs, Senno Verhoef, Rob A. E. M. Tollenaar, Anna Marie Mulligan, Kenneth Muir, Christina Clarke Dur, Katarzyna Jaworska, Saila Kauppila, Olivia Fletcher, Jaana M. Hartikainen, Michael P. Lux, Kyriaki Michailidou, Stefano Fortuzzi, Douglas F. Easton, Anthony J. Swerdlow, Elza Khusnutdinova, Annie Perkins, Carl Blomqvist, Argyrios Ziogas, Keun-Young Yoo, Caroline Seynaeve, Natalia Antonenkova, Bruce A.J. Ponder, Vessela N. Kristensen, Gord Glendon, Daehee Kang, Elinor J. Sawyer, Michael Bremer, Louise A. Brinton, Minouk J. Schoemaker, Kamila Czene, Isabel dos Santos Silva, John L. Hopper, Astrid K. Irwanto, Nick Orr, S Gerty, Fergus J. Couch, Arkom Chaiwerawattana, Manjeet K. Humphreys, Marjanka K. Schmidt, Maya Ghoussaini, Nikki Graham, Artitaya Lophatananon, Florence Menegaux, Enes Makalic, Katri Pylkäs, Nichola Johnson, Xianshu Wang, Bernardo Bonanni, Mark Lathrop, Human genetics, CCA - Oncogenesis, Clinical Genetics, Internal Medicine, Medical Oncology, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, and Human Genetics

Subjects
Candidate gene, Chromosomes,Human,Pair 21, analysis, cell carcinoma, Mammary gland, Estrogen receptor, Genome-wide association study, developmental regulatory molecule, 0302 clinical medicine, common variants, retinoic acid, Pair 12, genetics, hormone-related protein, Genetics, Chromosomes,Human,Pair 12, Treatment - Localised Therapies – Discovery and Development, Principal Component Analysis, 0303 health sciences, Bone metastasis, Single Nucleotide, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, epidemiology, Cancer Type - Breast Cancer, Female, Human, Risk, ulnar-mammary syndrome, parathyroid-hormone, European Continental Ancestry Group, Breast Neoplasms, Biology, Chromosomes, Polymorphism,Single Nucleotide, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Genetic predisposition, medicine, cancer, Humans, Women, Genetic Predisposition to Disease, Polymorphism, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], breast, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Cancer, confer susceptibility, medicine.disease, gene-expression, Logistic Models, negative-feedback, Genetic Loci, Cancer research, Other, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 21, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Pair 21, Meta-Analysis
Abstract

Item does not contain fulltext Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for approximately 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.

Published
2012

Catalog

Books, media, physical & digital resources
See catalog results