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Amanda B. Spurdle

qimr berghofer medical research institute

95H-index
813Paper Count
4.0WCitation Count
Published Papers 295
Publication Date
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BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types
errESMO Open
IF8.3
err2026-04-08
err0
errOAAI
errH. Sasagawa; M. Endo; Y. Iwasaki; Y. Usui; Y.N. Koyanagi; G. Innella; J. Hadler; M.T. Parsons; K. Numakura; Y. Kamatani; Y. Murakami; K. Matsuo; K. Matsuda; A.B. Spurdle; T. Habuchi; Y. Momozawa
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Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations
errJNCI: Journal of the National Cancer Institute
IF0
err2026-01-24
err0
errOAAI
errChristian P Kratz, MD; Megan N Frone, MS; Payal P Khincha, MBBS; Jessica N Hatton, MS; Judith Penkert, MD; Paul A James, MD; Amanda B Spurdle, PhD; Cristina Fortuno, PhD
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Correspondence on “Genome sequencing reveals the impact of pseudoexons in rare genetic disease” by Pitsava et al
errGenetics in Medicine
IF6.2
err2026-01-06
err0
PREAI
errDaffodil M. Canson; George A.R. Wiggins; Logan C. Walker; Amanda B. Spurdle
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Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan
errCommunications Medicine
IF6.3
err2025-11-13
err0
errOAAI
errKeijiro Mizukami; Yoshiaki Usui; Yusuke Iwasaki; Kouya Shiraishi; Makoto Hirata; Yoichiro Kamatani; Mikiko Endo; Satoshi Takahashi; Yoshiki Mochizuki; Mitusyo Yamaguchi; Takashi Kohno; Koichi Matsuda; Kokichi Sugano; Teruhiko Yoshida; Hidewaki Nakagawa; Chikashi Terao; Yuriko N. Koyanagi; Keitaro Matsuo; Yoshinori Murakami; Amanda B. Spurdle; Yukihide Momozawa
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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
errThe American Journal of Human Genetics
IF0
err2025-10-30
err0
PREAI
errSharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
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Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
errThe Breast
IF0
err2025-10-30
err0
errOAAI
errAmandine Billaud; Gisella Figlioli; Clémence Mooser; Irene Casamassima; Violette Azzoni; Jahnavi Srivatsa; Mara Colombo; Laura Caleca; Thomas U. Ahearn; Irene L. Andrulis; Antonis C. Antoniou; Matthias W. Beckmann; Sabine Behrens; Marina Bermisheva; Natalia V. Bogdanova; Manjeet K. Bolla; Bernardo Bonanni; Thomas Brüning; Nicola J. Camp; Archie Campbell; Jose E. Castelao; Melissa H. Cessna; Jenny Chang-Claude; Kamila Czene; Joe Dennis; Peter Devilee; Thilo Dörk; Alison M. Dunning; Mikael Eriksson; D.Gareth Evans; Peter A. Fasching; Jonine D. Figueroa; Marike Gabrielson; Manuela Gago-Dominguez; Anna González-Neira; Pascal Guénel; Andreas Hadjisavvas; Eric Hahnen; Ute Hamann; Peter Hillemanns; Antoinette Hollestelle; Maartje J. Hooning; Reiner Hoppe; Anthony Howell; Anna Jakubowska; Vessela N. Kristensen; Jan Lubiński; Michael Lush; Siranoush Manoukian; Dimitrios Mavroudis; Roger L. Milne; Anna Marie Mulligan; William G. Newman; Nadia Obi; Mihalis I. Panayiotidis; Guillermo Pita; Muhammad U. Rashid; Valerie Rhenius; Emmanouil Saloustros; Elinor J. Sawyer; Rita K. Schmutzler; Mitul Shah; Melissa C. Southey; Amanda B. Spurdle; Ian Tomlinson; Thérèse Truong; Qin Wang; Camilla Wendt; Paul L. Auer; Nicholas J. Boddicker; Clara Bodelon; Elizabeth S. Burnside; Fei Chen; Fergus J. Couch; Susan M. Domchek; Heather A. Eliassen; Christopher Haiman; James M. Hodge; Chunling Hu; Hongyan Huang; Sara Lindstrom; Maria Elena Martinez; Katherine L. Nathanson; Susan L. Neuhausen; Katie M. O’Brien; Janet E. Olson; Julie R. Palmer; Alpa V. Patel; Kathryn J. Ruddy; Dale P. Sandler; Lauren R. Teras; Clarice R. Weinberg; Jeffrey N. Weitzel; Stacey J. Winham; Siddhartha Yadav; Song Yao; Gary Zirpoli; Marketa Janatova; Zdenek Kleibl; Petra Kleiblova; Jana Soukupova; Qihong Zhao; Lisa Devereux; Paul A. James; Ian G. Campbell; Tu Nguyen-Dumont; James G. Dowty; Nadine Andrieu; Fabienne Lesueur; Dominique Stoppa-Lyonnet; Miguel de la Hoya; Paolo Radice; Claus Storgaard Sørensen; Paolo Peterlongo
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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
errGenome Medicine
IF11.2
err2025-10-24
err0
errOAAI
errCristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle
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errSave
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
erramerican journal of human genetics
IF0
err2025-09-17
err0
errOAAI
errMarcy E. Richardson; Megan F.H. Bishop; Megan A. Holdren; Miguel de la Hoya; Amanda B. Spurdle; Sean V. Tavtigian; Terra Brannan; Colin C. Young; Lauren Zec; Susan Hiraki; Clare Turnbull; Marc Tischkowitz; Kara A. Bernstein; Jean-Yves Masson; Shannon M. McNulty; Tina Pesaran; Alvaro N. Monteiro; Logan C. Walker; William D. Foulkes; Fergus J. Couch
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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53
errHuman Genetics and Genomics Advances
IF3.6
err2025-07-21
err0
errOAAI
errCristina Fortuno; Marcy E. Richardson; Tina Pesaran; Kelly McGoldrick; Paul A. James; Amanda B. Spurdle
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errSave
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact
errNPJ GENOMIC MEDICINE
IF4.8
err2025-05-08
err0
errOAAI
errDaffodil M. Canson; Inés Llinares-Burguet; Cristina Fortuno; Lara Sanoguera-Miralles; Elena Bueno-Martínez; Miguel de la Hoya; Amanda B. Spurdle; Eladio A. Velasco-Sampedro
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ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-05-01
err0
errOAAI
errRamadane-Morchadi, L; Rotenberg, N; Esteban-Sánchez, A; Fortuno, C; Gómez-Sanz, A; Varga, MJ; Chamberlin, A; Richardson, ME; Michailidou, K; Pérez-Segura, P; Spurdle, AB; de la Hoya, M
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Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-05-01
err0
PREAI
errRotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J.; Chamberlin, Adam C.; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E.; Spurdle, Amanda B.
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Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
errHUMAN GENOMICS
IF4.3
err2025-01-08
err0
errOAAI
errFortuno, Cristina; Llinares-Burguet, Ines; Canson, Daffodil M.; de la Hoya, Miguel; Bueno-Martinez, Elena; Sanoguera-Miralles, Lara; Caldes, Sonsoles; James, Paul A.; Velasco-Sampedro, Eladio A.; Spurdle, Amanda B.
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errSave
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-11-01
err0
errOAAI
errRichardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J.
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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-14
err1
errOAAI
errFortuno, Cristina; Cops, Elisa J.; Davidson, Aimee L.; Hadler, Johanna; Innella, Giovanni; Mckenzie, Maddison E.; Parsons, Michael; Campbell, Ainsley M.; Dubowsky, Andrew; Fargas, Verna; Field, Michael J.; Mar Fan, Helen G.; Nichols, Cassandra B.; Poplawski, Nicola K.; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; Mcphillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A.; Spurdle, Amanda B.
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-09-01
err12
errOAAI
errParsons, Michael T.; de la Hoya, Miguel; Richardson, Marcy E.; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M.; Chan, Raymond C.; Cline, Melissa S.; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; San Leong, Huei; Martins, Alexandra; Mensenkamp, Arjen R.; Monteiro, Alvaro N.; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A.; Toland, Amanda E.; Turnbull, Clare; Vogel, Maartje J.; Weyandt, Jamie; Wiggins, George A. R.; Zec, Lauren; Couch, Fergus J.; Walker, Logan C.; Vreeswijk, Maaike P. G.; Goldgar, David E.; Spurdle, Amanda B.
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Regional-specific calibration enables application of computational evidence for clinical classification of 5' cis-regulatory variants in Mendelian disease
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-07-01
err0
PREAI
errVillani, Rehan M.; McKenzie, Maddison E.; Davidson, Aimee L.; Spurdle, Amanda B.
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Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-05-25
err5
errOAAI
errBest, Stephanie; Fehlberg, Zoe; Richards, Christopher; Quinn, Michael C. J.; Lunke, Sebastian; Spurdle, Amanda B.; Kassahn, Karin S.; Patel, Chirag; Vears, Danya F.; Goranitis, Ilias; Lynch, Fiona; Robertson, Alan; Tudini, Emma; Christodoulou, John; Scott, Hamish; McGaughran, Julie; Stark, Zornitza
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TP53-associated early breast cancer: new observations from a large cohort
errJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
err2024-04-03
err3
PREAI
errSandoval, Renata L.; Bottosso, Michele; Li, Tianyu; Polidorio, Natalia; Bychkovsky, Brittany L.; Verret, Benjamin; Gennari, Alessandra; Cahill, Sophie; Achatz, Maria Isabel; Caron, Olivier; Imbert-Bouteille, Marion; Nogues, Catherine; Mawell, Kara N.; Fortuno, Cristina; Spurdle, Amanda B.; Tayob, Nabihah; Andre, Fabrice; Garber, Judy E.
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Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project
errCANCER RESEARCH
IF16.6
err2024-03-22
err0
PREAI
errLyra, Paulo; Dalcolmo, Lucas; Parsons, Michael; Nepomuceno, Thales; Brito, Samuel; Nguyen, Nam Phuong N.; de Oliveira, Geise; da Siva, Joao Paulo; Caleca, Laura; Taneja, Tanisha; Hu, Chunling; Richardson, Marcy; Rossing, Maria; Hazra, Aditi; Martins, Alexandra; Caputo, Sandrine; Millot, Gael A.; Yie, Joanne NgeowYuen; Carvalho, Marcelo A.; Cline, Melissa; Radice, Paolo; Carlsen, Rachael; Mesman, Romy; Zampiga, Valentina; Villani, Rehan; Josef, Vijay; Sharan, Shyam; Michailidou, Kyriaki; Spurdle, Amanda B.; Couch, Fergus; Vreeswijk, Maaike P. G.; Monteiro, Alvaro N.
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Research Directions

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Co-authors
Cooperation Journals
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Hermann Brenner
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B
Børge G. Nordestgaard
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S
Steven J.M. Jones
H-index: 189 · Papers: 1.3K
C
Cisca Wijmenga
H-index: 169 · Papers: 996
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Graham G. Giles
H-index: 164 · Papers: 2.4K
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