Works by Spurdle, Amanda

Results: 147

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00498-0

By:

Canson, Daffodil M.;
Llinares-Burguet, Inés;
Fortuno, Cristina;
Sanoguera-Miralles, Lara;
Bueno-Martínez, Elena;
de la Hoya, Miguel;
Spurdle, Amanda B.;
Velasco-Sampedro, Eladio A.

Publication type:

Article

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population.

Published in:

Quality of Life Research, 2015, v. 24, n. 9, p. 2183, doi. 10.1007/s11136-015-0950-6

By:

Alexander, Kimberly;
Chambers, Suzanne;
Spurdle, Amanda;
Batra, Jyotsna;
Lose, Felicity;
O'Mara, Tracy;
Gardiner, Robert;
Aitken, Joanne;
Clements, Judith;
Kedda, Mary-Anne;
Janda, Monika

Publication type:

Article

The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?

Published in:

Frontiers in Pharmacology, 2017, v. 8, p. 1, doi. 10.3389/fphar.2017.00218

By:

Glubb, Dylan M.;
O'Mara, Tracy A.;
Shamsani, Jannah;
Spurdle, Amanda B.

Publication type:

Article

Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA).

Published in:

Cancers, 2023, v. 15, n. 1, p. 254, doi. 10.3390/cancers15010254

By:

Smith, Deborah;
Robledo, Kristy P.;
Yip, Sonia;
Cummins, Michelle M.;
Kok, Peey-Sei;
Lee, Yeh Chen;
Friedlander, Michael;
Baron-Hay, Sally;
Shannon, Catherine;
Coward, Jermaine;
Beale, Philip;
Goss, Geraldine;
Meniawy, Tarek;
Lombard, Janine;
Spurdle, Amanda B.;
Andrews, John;
Stockler, Martin R.;
Mileshkin, Linda;
Antill, Yoland

Publication type:

Article

Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk.

Published in:

Cancers, 2021, v. 13, n. 9, p. 2088, doi. 10.3390/cancers13092088

By:

Zhu, Jingjing;
O'Mara, Tracy A.;
Liu, Duo;
Setiawan, Veronica Wendy;
Glubb, Dylan;
Spurdle, Amanda B.;
Fasching, Peter A.;
Lambrechts, Diether;
Buchanan, Daniel;
Kho, Pik Fang;
Cook, Linda S.;
Friedenreich, Christine;
Lacey, James V.;
Chen, Chu;
Wentzensen, Nicolas;
De Vivo, Immaculata;
Sun, Yan;
Long, Jirong;
Du, Mengmeng;
Shu, Xiao-Ou

Publication type:

Article

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Published in:

Cancers, 2021, v. 13, n. 8, p. 1762, doi. 10.3390/cancers13081762

By:

Kondrashova, Olga;
Shamsani, Jannah;
O'Mara, Tracy A.;
Newell, Felicity;
Reed, Amy E. McCart;
Lakhani, Sunil R.;
Kirk, Judy;
Pearson, John V.;
Waddell, Nicola;
Spurdle, Amanda B.;
Wong, David

Publication type:

Article

Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci.

Published in:

Cancers, 2019, v. 11, n. 10, p. 1440, doi. 10.3390/cancers11101440

By:

O'Mara, Tracy A.;
Spurdle, Amanda B.;
Glubb, Dylan M.

Publication type:

Article

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Published in:

Breast Cancer Research, 2024, v. 26, n. 1, p. 1, doi. 10.1186/s13058-023-01755-9

By:

Block, Ines;
Mateu-Regué, Àngels;
Do, Thi Tuyet Nhu;
Miceikaite, Ieva;
Sdogati, Daniel;
Larsen, Martin J.;
Hao, Qin;
Nielsen, Henriette Roed;
Boonen, Susanne E.;
Skytte, Anne-Bine;
Jensen, Uffe Birk;
Høffding, Louise K.;
De Nicolo, Arcangela;
Viel, Alessandra;
Tudini, Emma;
Parsons, Michael T.;
Hansen, Thomas V. O.;
Rossing, Maria;
Kruse, Torben A.;
Spurdle, Amanda B.

Publication type:

Article

Opposite Effects of Androgen Receptor CAG Repeat Length on Increased Risk of Left-Handedness in Males and Females.

Published in:

Behavior Genetics, 2005, v. 35, n. 6, p. 735, doi. 10.1007/s10519-005-6187-3

By:

Medland, Sarah E.;
Duffy, David L.;
Spurdle, Amanda B.;
Wright, Margaret J.;
Geffen, Gina M.;
Montgomery, Grant W.;
Martin, Nicholas G.

Publication type:

Article

The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness.

Published in:

Biological Chemistry, 2012, v. 393, n. 5, p. 403, doi. 10.1515/hsz-2011-0268

By:

Lose, Felicity;
Lawrence, Mitchell G.;
Srinivasan, Srilakshmi;
O'Mara, Tracy;
Marquart, Louise;
Chambers, Suzanne;
Gardiner, Robert A.;
Aitken, Joanne F.;
Spurdle, Amanda B.;
Batra, Jyotsna;
Clements, Judith A.

Publication type:

Article

The microsomal epoxide hydrolase Tyr113His polymorphism: Association with risk of ovarian cancer.

Published in:

Molecular Carcinogenesis, 2001, v. 30, n. 1, p. 71, doi. 10.1002/1098-2744(200101)30:1<71::AID-MC1015>3.0.CO;2-9

By:

Spurdle, Amanda B.;
Purdie, David M.;
Webb, Penelope M.;
Chen, Xiaoqing;
Green, Adele;
Chenevix-Trench, Georgia

Publication type:

Article

Human papillomavirus DNA detected in peripheral blood samples from healthy Australian male blood donors.

Published in:

Journal of Medical Virology, 2009, v. 81, n. 10, p. 1792, doi. 10.1002/jmv.21592

By:

Chen, Alice Che-Ha;
Keleher, Annie;
Kedda, Mary-Anne;
Spurdle, Amanda B.;
McMillan, Nigel A.J.;
Antonsson, Annika

Publication type:

Article

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 2328, doi. 10.1002/humu.24500

By:

Canson, Daffodil;
Glubb, Dylan;
Spurdle, Amanda B.

Publication type:

Article

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 2054, doi. 10.1002/humu.24468

By:

Davidson, Aimee L.;
Kondrashova, Olga;
Leonard, Conrad;
Wood, Scott;
Tudini, Emma;
Hollway, Georgina E.;
Pearson, John V.;
Newell, Felicity;
Spurdle, Amanda B.;
Waddell, Nicola

Publication type:

Article

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1249, doi. 10.1002/humu.24387

By:

Rayner, Emily;
Tiersma, Yvonne;
Fortuno, Cristina;
van Hees‐Stuivenberg, Sandrine;
Drost, Mark;
Thompson, Bryony;
Spurdle, Amanda B.;
de Wind, Niels

Publication type:

Article

Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 882, doi. 10.1002/humu.24357

By:

James, Paul A.;
Fortuno, Cristina;
Li, Na;
Lim, Belle W. X.;
Campbell, Ian G.;
Spurdle, Amanda B.

Publication type:

Article

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1351, doi. 10.1002/humu.24264

By:

Fortuno, Cristina;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
McGoldrick, Kelly;
Tavtigian, Sean V.;
Goldgar, David;
Spurdle, Amanda B.;
James, Paul A.

Publication type:

Article

Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1265, doi. 10.1002/humu.24256

By:

Johnatty, Sharon E.;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
LaDuca, Holly;
James, Paul A.;
O'Mara, Tracy A.;
Spurdle, Amanda B.

Publication type:

Article

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 530, doi. 10.1002/humu.24183

By:

Davidson, Aimee L.;
Leonard, Conrad;
Koufariotis, Lambros T.;
Parsons, Michael T.;
Hollway, Georgina E.;
Pearson, John V.;
Newell, Felicity;
Waddell, Nicola;
Spurdle, Amanda B.

Publication type:

Article

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1705, doi. 10.1002/humu.24074

By:

Canson, Daffodil;
Glubb, Dylan;
Spurdle, Amanda B.

Publication type:

Article

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

Published in:

Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060

By:

Fortuno, Cristina;
Mester, Jessica;
Pesaran, Tina;
Weitzel, Jeffrey N.;
Dolinsky, Jill;
Yussuf, Amal;
McGoldrick, Kelly;
Garber, Judy E.;
Savage, Sharon A.;
Khincha, Payal P.;
Gareth Evans, D.;
Achatz, Maria Isabel;
Nichols, Kim E.;
Maxwell, Kara N.;
Schiffman, Joshua D.;
Sandoval, Renata;
James, Paul A.;
Spurdle, Amanda B.

Publication type:

Article

Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 537, doi. 10.1002/humu.23972

By:

Fortuno, Cristina;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
McGoldrick, Kelly;
Goldgar, David;
James, Paul A.;
Spurdle, Amanda B.

Publication type:

Article

ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70924-z

By:

Liu, Dongli;
Gunther, Kate;
Enriquez, Luis A.;
Daniels, Benjamin;
O'Mara, Tracy A.;
Tang, Katrina;
Spurdle, Amanda B.;
Ford, Caroline E.

Publication type:

Article

Knowledge, Attitudes and Referral Patterns of Lynch Syndrome: A Survey of Clinicians in Australia.

Published in:

Journal of Personalized Medicine, 2014, v. 4, n. 2, p. 218, doi. 10.3390/jpm4020218

By:

Tan, Yen Y.;
Spurdle, Amanda B.;
Obermair, Andreas

Publication type:

Article

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

Published in:

Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01139

By:

Walker, Logan C.;
Lattimore, Vanessa Lilian;
Kvist, Anders;
Kleiblova, Petra;
Zemankova, Petra;
de Jong, Lucy;
Wiggins, George A. R.;
Hakkaart, Christopher;
Cree, Simone L.;
Behar, Raquel;
Houdayer, Claude;
Investigators, kConFab;
Parsons, Michael T.;
Kennedy, Martin A.;
Spurdle, Amanda B.;
de la Hoya, Miguel

Publication type:

Article

Progesterone receptor gene variants and risk of endometrial cancer.

Published in:

Carcinogenesis, 2011, v. 32, n. 3, p. 331

By:

O'Mara, Tracy A.;
Fahey, Paul;
Ferguson, Kaltin;
Marquart, Louise;
Lambrechts, Diether;
Despierre, Evelyn;
Vergote, Ignace;
Amant, Frederic;
Hall, Per;
Liu, Jianjun;
Czene, Kamila;
Rebbeck, Timothy R.;
Ahmed, Shahana;
Dunning, Alison M.;
Gregory, Catherine S.;
Shah, Mitul;
Webb, Penelope M.;
Spurdle, Amanda B.

Publication type:

Article

Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis.

Published in:

European Journal of Nutrition, 2013, v. 52, n. 2, p. 705, doi. 10.1007/s00394-012-0376-7

By:

Nagle, Christina;
Olsen, Catherine;
Ibiebele, Torukiri;
Spurdle, Amanda;
Webb, Penelope

Publication type:

Article

Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.

Published in:

2021

By:

Russell, Holly;
Kedzierska, Katarzyna;
Buchanan, Daniel D.;
Thomas, Rachael;
Tham, Emma;
Mints, Miriam;
Keränen, Anne;
Giles, Graham G.;
Southey, Melissa C.;
Milne, Roger L.;
Tomlinson, Ian;
Church, David;
Spurdle, Amanda B.;
O'Mara, Tracy A.;
Lewis, Annabelle

Publication type:

Correction Notice

The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.

Published in:

Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00889-3

By:

Russell, Holly;
Kedzierska, Katarzyna;
Buchanan, Daniel D.;
Thomas, Rachael;
Tham, Emma;
Mints, Miriam;
Keränen, Anne;
Giles, Graham G.;
Southey, Melissa C.;
Milne, Roger L.;
Tomlinson, Ian;
Church, David;
Spurdle, Amanda B.;
O'Mara, Tracy A.;
Lewis, Annabelle

Publication type:

Article

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.

Published in:

Human Genetics, 2015, v. 134, n. 3, p. 269, doi. 10.1007/s00439-014-1507-4

By:

Moir-Meyer, Gemma;
Pearson, John;
Lose, Felicity;
Scott, Rodney;
McEvoy, Mark;
Attia, John;
Holliday, Elizabeth;
Pharoah, Paul;
Dunning, Alison;
Thompson, Deborah;
Easton, Douglas;
Spurdle, Amanda;
Walker, Logan

Publication type:

Article

Value of the loss of heterozygosity to BRCA1 variant classification.

Published in:

NPJ Breast Cancer, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41523-021-00361-2

By:

Santana dos Santos, Elizabeth;
Spurdle, Amanda B.;
Carraro, Dirce M.;
Briaux, Adrien;
Southey, Melissa;
Torrezan, Giovana;
Petitalot, Ambre;
Leman, Raphael;
Lafitte, Philippe;
Meseure, Didier;
Driouch, Keltouma;
Side, Lucy;
Brewer, Carole;
Beck, Sarah;
Melville, Athalie;
Callaway, Alison;
Revillion, Françoise;
Folgueira, Maria A. A. Koike;
Parsons, Michael T.;
Thorne, Heather

Publication type:

Article

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.

Published in:

NPJ Breast Cancer, 2020, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41523-020-00185-6

By:

Muranen, Taru A.;
Khan, Sofia;
Fagerholm, Rainer;
Aittomäki, Kristiina;
Cunningham, Julie M.;
Dennis, Joe;
Leslie, Goska;
McGuffog, Lesley;
Parsons, Michael T.;
Simard, Jacques;
Slager, Susan;
Soucy, Penny;
Easton, Douglas F.;
Tischkowitz, Marc;
Spurdle, Amanda B.;
Schmutzler, Rita K.;
Wappenschmidt, Barbara;
Hahnen, Eric;
Hooning, Maartje J.;
Singer, Christian F.

Publication type:

Article

Design and quality control of large-scale two-sample Mendelian randomization studies.

Published in:

International Journal of Epidemiology, 2023, v. 52, n. 5, p. 1498, doi. 10.1093/ije/dyad018

By:

Haycock, Philip C;
Borges, Maria Carolina;
Burrows, Kimberley;
Lemaitre, Rozenn N;
Harrison, Sean;
Burgess, Stephen;
Chang, Xuling;
Westra, Jason;
Khankari, Nikhil K;
Tsilidis, Kostas K;
Gaunt, Tom;
Hemani, Gibran;
Zheng, Jie;
Truong, Therese;
O'Mara, Tracy A;
Spurdle, Amanda B;
Law, Matthew H;
Slager, Susan L;
Birmann, Brenda M;
Hosnijeh, Fatemeh Saberi

Publication type:

Article

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 8, p. 724, doi. 10.1093/hmg/ddae009

By:

Fortuno, Cristina;
Michailidou, Kyriaki;
Parsons, Michael;
Dolinsky, Jill S;
Pesaran, Tina;
Yussuf, Amal;
Mester, Jessica L;
Hruska, Kathleen S;
Hiraki, Susan;
O'Connor, Robert;
Chan, Raymond C;
Kim, Serra;
Tavtigian, Sean V;
Goldgar, David;
James, Paul A;
Spurdle, Amanda B

Publication type:

Article

BRCA2 arg372hispolymorphism and epithelial ovarian cancer risk.

Published in:

International Journal of Cancer, 2003, v. 103, n. 3, p. 427, doi. 10.1002/ijc.10814

By:

Auranen, Annika;
Spurdle, Amanda B.;
Chen, Xiaoqing;
Lipscombe, Julian;
Purdie, David M.;
Hopper, John L.;
Green, Adele;
Healey, Catherine S.;
Redman, Karen;
Dunning, Alison M.;
Pharoah, Paul D.;
Easton, Douglas F.;
Ponder, Bruce A.J.;
Chenevix-Trench, Georgia;
Novik, Karen L.

Publication type:

Article

Androgen receptor exon 1 cag repeat length and risk of ovarian cancer.

Published in:

International Journal of Cancer, 2000, v. 87, n. 5, p. 637, doi. 10.1002/1097-0215(20000901)87:5<637::AID-IJC3>3.0.CO;2-R

By:

Spurdle, Amanda B.;
Webb, Penelope M.;
Chen, Xiaoqing;
Martin, Nicholas G.;
Giles, Graham G.;
Hopper, John L.;
Chenevix-Trench, Georgia

Publication type:

Article

CYP17 promotor polymorphism and ovarian cancer risk.

Published in:

International Journal of Cancer, 2000, v. 86, n. 3, p. 436, doi. 10.1002/(SICI)1097-0215(20000501)86:3<436::AID-IJC21>3.0.CO;2-A

By:

Spurdle, Amanda B.;
Chen, Xiaoqing;
Abbazadegan, Mohammed;
Martin, Nicholas;
Khoo, Soo-Keat;
Hurst, Terry;
Ward, Bruce;
Webb, Penelope M.;
Chenevix-Trench, Georgia

Publication type:

Article

The Y-Specific pDP31 Rearrangement Polymorphism in Southern African Populations.

Published in:

Human Heredity, 1994, v. 44, n. 5, p. 261, doi. 10.1159/000154227

By:

Spurdle, Amanda Barbara;
Jenkins, Trefor

Publication type:

Article

The Y-Specific p21A1/Taql Polymorphism Occurs in Four Major Population Groups.

Published in:

Human Heredity, 1993, v. 43, n. 1, p. 31, doi. 10.1159/000154110

By:

Spurdle, Amanda;
Jenkins, Trefor

Publication type:

Article

The Inverted Y-Chromosome Polymorphism in the Gujarati Muslim Indian Population of South Africa Has a Single Origin.

Published in:

Human Heredity, 1992, v. 42, n. 5, p. 330, doi. 10.1159/000154093

By:

Spurdle, Amanda;
Jenkins, Trefor

Publication type:

Article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.

Published in:

2017

By:

Kuchenbaecker, Karoline B.;
McGuffog, Lesley;
Barrowdale, Daniel;
Lee, Andrew;
Soucy, Penny;
Dennis, Joe;
Domchek, Susan M.;
Robson, Mark;
Spurdle, Amanda B.;
Ramus, Susan J.;
Mavaddat, Nasim;
Terry, Mary Beth;
Neuhausen, Susan L.;
Schmutzler, Rita Katharina;
Simard, Jacques;
Pharoah, Paul D. P.;
Offit, Kenneth;
Couch, Fergus J.;
Chenevix-Trench, Georgia;
Easton, Douglas F.

Publication type:

journal article

Response.

Published in:

2016

By:

Spurdle, Amanda B.;
Domchek, Susan;
Robson, Mark;
Buys, Saundra;
Radice, Paolo;
de la Hoya, Miguel;
Devilee, Peter;
Monteiro, Alvaro N. A.;
Southey, Melissa;
Eccles, Diana;
Couch, Fergus J.;
Goldgar, David E.;
all authors

Publication type:

Letter

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

Published in:

2015

By:

Nead, Kevin T.;
Sharp, Stephen J.;
Thompson, Deborah J.;
Painter, Jodie N.;
Savage, David B.;
Semple, Robert K.;
Barker, Adam;
Perry, John R. B.;
Attia, John;
Dunning, Alison M.;
Easton, Douglas F.;
Holliday, Elizabeth;
Lotta, Luca A.;
O'Mara, Tracy;
McEvoy, Mark;
Pharoah, Paul D. P.;
Scott, Rodney J.;
Spurdle, Amanda B.;
Langenberg, Claudia;
Wareham, Nicholas J.

Publication type:

journal article

Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies.

Published in:

JNCI: Journal of the National Cancer Institute, 2011, v. 103, n. 3, p. 250, doi. 10.1093/jnci/djq526

By:

Yang, Xiaohong R.;
Chang-Claude, Jenny;
Goode, Ellen L.;
Couch, Fergus J.;
Nevanlinna, Heli;
Milne, Roger L.;
Gaudet, Mia;
Schmidt, Marjanka K.;
Broeks, Annegien;
Cox, Angela;
Fasching, Peter A.;
Hein, Rebecca;
Spurdle, Amanda B.;
Blows, Fiona;
Driver, Kristy;
Flesch-Janys, Dieter;
Heinz, Judith;
Sinn, Peter;
Vrieling, Alina;
Heikkinen, Tuomas

Publication type:

Article

Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042.

Published in:

JNCI: Journal of the National Cancer Institute, 2009, v. 101, n. 14, p. 1012

By:

Milne, Roger L.;
Benítez, Javier;
Nevanlinma, Heli;
Heikkinen, Tuomas;
Aittomäki, Kristiina;
Blomqvist, Carl;
Arias, José Ignacio;
Zamora, M. Pilar;
Burkinwel, Barbara;
Bartram, Claus R.;
Meindi, Alfonso;
Schmutzler, Rita K.;
Cox, Angela;
Brock, Ian;
Elliott, Graeme;
Reed, Malcolm W. R.;
Southey, Melissa C.;
Smith, Letitia;
Spurdle, Amanda B.;
Hopper, John L.

Publication type:

Article

Skewed X Chromosome Inactivation and Breast and Ovarian Cancer Status: Evidence for X-Linked Modifiers of BRCA1.

Published in:

JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 21, p. 1519, doi. 10.1093/jnci/djn345

By:

Lose, Felicity;
Duffy, David L.;
Kay, Graham F.;
Cuningham, Kathleen;
Kedda, Mary A.;
Spurdle, Amanda B.

Publication type:

Article

Association of a Common AKAP9 Variant With Breast Cancer Risk: A Collaborative Analysis.

Published in:

JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 6, p. 437, doi. 10.1093/jnci/djn037

By:

Frank, Bernd;
Wiestler, Miriam;
Kropp, Silke;
Hemminki, Kari;
Spurdle, Amanda B.;
Sutter, Christian;
Wappenschmidt, Barbara;
Xiaoqing Chen;
Beesley, Jonathan;
Hopper, John L.;
Meindl, Alfons;
Kiechie, Marion;
Slanger, Tracy;
Bugert, Peter;
Schmutzler, Rita K.;
Bartram, Claus R.;
Flesch-Janys, Dieter;
Mutschelknauss, Elke;
Ashton, Katie;
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Publication type:

Article

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Journal of Gynecologic Oncology, 2018, v. 29, n. 3, p. 1, doi. 10.3802/jgo.2018.29.e39

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Nagle, Christina M.;
O'Mara, Tracy A.;
Yen Tan;
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Webb, Penelope M.;
Spurdle, Amanda B.

Publication type:

Article

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

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Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06581-8

By:

Momozawa, Yukihide;
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Parsons, Michael T.;
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Takahashi, Atsushi;
Tamura, Chieko;
Katagiri, Toyomasa;
Yoshida, Teruhiko;
Nakamura, Seigo;
Sugano, Kokichi;
Miki, Yoshio;
Hirata, Makoto;
Matsuda, Koichi;
Spurdle, Amanda B.;
Kubo, Michiaki

Publication type:

Article

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Published in:

Cancers, 2019, v. 11, n. 2, p. 151, doi. 10.3390/cancers11020151

By:

Caleca, Laura;
Colombo, Mara;
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Lázaro, Conxi;
Manoukian, Siranoush;
Parsons, Michael T.;
Spurdle, Amanda B.;
Radice, Paolo

Publication type:

Article