Amanda B Spurdle (Amanda Spurdle, A B Spurdle)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 72

Top Venues

Human mutation

Journal of medical genetics

JCO precision oncology

Cancers

University of the Witwatersrand (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

University of the Witwatersrand

South Africa

PHD

Publications

Cristina Fortuno, Amanda B Spurdle, Paul A James
Reply to S. Li et al. JCO precision oncology 8 (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing-Jian Feng, Courtney Carroll, Michael T Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M Caputo, Nadia Boutry-Kryza, Vincent Goussot, Susan Hiraki, Marcy E Richardson, null null, Simona Ferrari, Paolo Radice, Amanda B Spurdle, Daniela Turchetti
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management. Cancer medicine 13 (16) (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Stephanie Best, Zoe Fehlberg, Christopher Richards, Michael C J Quinn, Sebastian Lunke, Amanda B Spurdle, Karin S Kassahn, Chirag Patel, Danya F Vears, Ilias Goranitis, Fiona Lynch, Alan Robertson, Emma Tudini, John Chrisodoulou, Hamish S Scott, Julie McGaughran, Zornitza Stark
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services. European journal of human genetics : EJHG (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing-Jian Feng, Courtney Carroll, Michael T Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M Caputo, Nadia Boutry-Kryza, Vincent Goussot, Susan Hiraki, Marcy E Richardson, null null, Simona Ferrari, Paolo Radice, Amanda B Spurdle, Daniela Turchetti
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management. Cancer medicine 13 (16) (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Cristina Fortuno, Amanda B Spurdle, Paul A James
Reply to S. Li et al. JCO precision oncology 8 (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Waddington Achatz, Christine B Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul L Auer, Mollie E Barnard, Birgitte Bertelsen, null null, Marinus J Blok, Nicholas J Boddicker, Joan Brunet, Elizabeth S Burnside, Mariarosaria Calvello, Ian G Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, null null, Kim De Leeneer, Robin de Putter, Allison DePersia, Lisa Devereux, Susan M Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, Dafydd Gareth Evans, Lidia Feliubadaló, Florentia Fostira, Olivia Fuentes-Ríos, Encarna B Gómez-García, Sara González, Christopher A Haiman, Thomas Van Overeem Hansen, Jan Hauke, James M Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James V Lacey, Conxi Lazaro Garcia, Na Li, Weng Khong Lim, Sara Lindström, Adriana Lori, María Elena Martínez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N A Monteiro, Luigi Mori, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Julie R Palmer, Barbara Pasini, Alpa V Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E Richardson, Toon Rosseel, Kathryn J Ruddy, Marta Santamariña, Elizabeth Santana Dos Santos, Lauren R Teras, Amanda Ewart Toland, Amy Trentham-Dietz, Celine M Vachon, Alexander E Volk, Nana Weber-Lassalle, Jeffrey N Weitzel, Lisa Wiesmuller, Stacey J Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomáš Zima, Amanda B Spurdle, Ana Vega, Maria Rossing, Jesús Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B M Claes, Joanne Ngeow Yuen Yie, Yukihide Momozawa, Paul A James, Fergus J Couch, Libor Macůrek, Zdenek Kleibl
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
Denise G O'Mahony, Susan J Ramus, Melissa C Southey, Nicola S Meagher, Andreas Hadjisavvas, Esther M John, Ute Hamann, Evgeny N Imyanitov, Irene L Andrulis, Priyanka Sharma, Mary B Daly, Christopher R Hake, Jeffrey N Weitzel, Anna Jakubowska, Andrew K Godwin, Adalgeir Arason, Anita Bane, Jacques Simard, Penny Soucy, Maria A Caligo, Phuong L Mai, Kathleen B M Claes, Manuel R Teixeira, Wendy K Chung, Conxi Lazaro, Peter J Hulick, Amanda Ewart Toland, Inge Sokilde Pedersen, null null, Susan L Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Mallika Dhawan, Valentina Zampiga, Rita Danesi, Liliana Varesco, Viviana Gismondi, Valerio Gaetano Vellone, Paul A James, Ramunas Janavicius, Liene Nikitina-Zake, Finn Cilius Nielsen, Thomas van Overeem Hansen, Tanja Pejovic, Ake Borg, Johanna Rantala, Kenneth Offit, Marco Montagna, Katherine L Nathanson, Susan M Domchek, Ana Osorio, María José García, Beth Y Karlan, null null, Anna De Fazio, David Bowtell, null null, Lesley McGuffog, Goska Leslie, Michael T Parsons, Thilo Dörk, Lisa-Marie Speith, Elizabeth Santana Dos Santos, Alexandre André B A da Costa, Paolo Radice, Paolo Peterlongo, Laura Papi, Christoph Engel, Eric Hahnen, Rita K Schmutzler, Barbara Wappenschmidt, Douglas F Easton, Marc Tischkowitz, Christian F Singer, Yen Yen Tan, Alice S Whittemore, Weiva Sieh, James D Brenton, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Jana Soukupova, Michal Vocka, null null, Georgia Chenevix-Trench, Paul David Peter Pharoah, Antonis C Antoniou, David E Goldgar, Amanda B Spurdle, Kyriaki Michailidou, null null, null null
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. British journal of cancer (2023)
Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A James, Amanda B Spurdle
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. Journal of medical genetics (2023)
Emma Tudini, Matilda A Haas, Tessa Mattiske, Amanda B Spurdle
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices. Journal of medical genetics (2023)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics (2023)
Deborah Smith, Kristy P Robledo, Sonia Yip, Michelle M Cummins, Peey Sei Kok, Yeh Chen Lee, Michael Friedlander, Sally Baron-Hay, Catherine Shannon, Jermaine I G Coward, Philip Beale, Geraldine Goss, Tarek M Meniawy, Janine Lombard, Amanda B Spurdle, John Andrews, Martin R Stockler, Linda Mileshkin, Yoland C Antill, null null
Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). Cancers 15 (1) (2022)
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, Mireia Menendez, Maria Rossing, Ada Esteban-Sánchez, Emma Tudini, Therese Törngren, Michael T Parsons, Inge S Pedersen, Soo H Teo, Torben A Kruse, Pål Møller, Åke Borg, Uffe B Jensen, Lise L Christensen, Christian F Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage Storstein Andresen, Bing-Jian Feng, Daffodil Canson, Marcy E Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R Conner, Nelly Abualkheir, Lily Hoang, Fabienne M G R Calléja, Lesley Andrews, Paul A James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E Goldgar, Logan C Walker, Christoph Engel, Kathleen B M Claes, Eva Macháčková, Htoo Aung Wai, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, null null, Maaike P G Vreeswijk, Miguel de la Hoya, Amanda B Spurdle
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Human mutation (2022)
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda B Spurdle, Niels de Wind
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. Human mutation 43 (9) (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Paul A James, Cristina Fortuno, Na Li, Belle W X Lim, Ian G Campbell, Amanda B Spurdle
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria. Human mutation 43 (7) (2022)
Deborah Smith, Kristy P Robledo, Sonia Yip, Michelle M Cummins, Peey Sei Kok, Yeh Chen Lee, Michael Friedlander, Sally Baron-Hay, Catherine Shannon, Jermaine I G Coward, Philip Beale, Geraldine Goss, Tarek M Meniawy, Janine Lombard, Amanda B Spurdle, John Andrews, Martin R Stockler, Linda Mileshkin, Yoland C Antill, null null
Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). Cancers 15 (1) (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Marta Crous-Bou, Mengmeng Du, Marc J Gunter, Veronica W Setiawan, Leo J Schouten, Christina E Bailey, Nicolas Wenstzensen, Kimberly A Bertrand, Linda S Cook, Christine M Friedenreich, Susan M Gapstur, Marc T Goodman, Torukiri I Ibiebele, Carlo La Vecchia, Fabio Levi, Linda M Liao, Eva Negri, Susan E McCann, Kelly O'Connell, Julie R Palmer, Alpa V Patel, Jeanette Ponte, Peggy Reynolds, Carlotta Sacerdote, Rashmi Sinha, Amanda B Spurdle, Britton Trabert, Piet A van den Brandt, Penelope M Webb, Stacey Petruzella, Sara H Olson, Immaculata De Vivo, null null
Coffee consumption and risk of endometrial cancer: a pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium (E2C2). The American journal of clinical nutrition (2022)
Elizabeth Santana Dos Santos, Amanda B Spurdle, Dirce M Carraro, Adrien Briaux, Melissa C Southey, Giovana Tardin Torrezan, Ambre Petitalot, Raphael Leman, Philippe Lafitte, null null, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Françoise Revillion, Maria A A Koike Folgueira, Michael T Parsons, Heather Thorne, Anne-Vincent Salomon, Dominique Stoppa-Lyonnet, Ivan Bieche, Sandrine M Caputo, Etienne Rouleau
Value of the loss of heterozygosity to BRCA1 variant classification. NPJ breast cancer 8 (1) (2022)
Sherly X Li, Valentina Silvestri, Goska Leslie, Timothy R Rebbeck, Susan L Neuhausen, John L Hopper, Henriette Roed Nielsen, Andrew J Lee, Xin Yang, Lesley McGuffog, Michael T Parsons, Irene L Andrulis, Norbert Arnold, Muriel Belotti, Åke Borg, Bruno Buecher, Saundra S Buys, Sandrine M Caputo, Wendy K Chung, Chrystelle Colas, Sarah V Colonna, Jackie Cook, Mary B Daly, Miguel de la Hoya, Antoine De Pauw, Hélène Delhomelle, Jacqueline Eason, Christoph Engel, D Gareth Evans, Ulrike Faust, Tanja N Fehm, Florentia Fostira, George Fountzilas, Megan N Frone, Vanesa Garcia-Barberan, Pilar Garre, Marion Gauthier-Villars, Andrea Gehrig, Gord Glendon, David E Goldgar, Lisa Golmard, Mark H Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horvath, Louise Izatt, Ramunas Janavicius, Yue Jiao, Isabelle Durot, Beth Y Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Laugé, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret-Fourme, Hannah Musgrave, Joanne Ngeow Yuen Yie, Dieter Niederacher, Sue K Park, Inge Sokilde Pedersen, Juliane Ramser, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamariña, Claire Saule, Gunnar Schmidt, Rita K Schmutzler, Leigha Senter, Saba Shariff, Christian F Singer, Melissa C Southey, Dominique Stoppat-Lyonnet, Christian Sutter, Yen Tan, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda Ewart Toland, Diana Torres, Ana Vega, Sebastian A Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard Heinrich Friedrich Weber, Drakoulis Yannoukakos, Amanda B Spurdle, Douglas F Easton, Georgia Chenevix-Trench, Laura Ottini, Antonis C Antoniou
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 40 (14) (2022)
Rachel Delahunty, Linh Nguyen, Stuart Craig, Belinda Creighton, Dinuka Ariyaratne, Dale W Garsed, Elizabeth L Christie, Sian Fereday, Lesley Andrews, Alexandra Lewis, Sharne Limb, Ahwan Pandey, Joy Hendley, Nadia Traficante, Natalia Carvajal, Amanda B Spurdle, Bryony A Thompson, Michael T Parsons, Victoria Beshay, Mila Volcheck, Timothy Semple, Richard Lupat, Kenneth D Doig, Jiaan Yu, Xiao Qing Chen, Anna Marsh, Christopher Love, Sanela Bilic, Maria Beilin, Cassandra B Nichols, Christina Greer, Yeh Chen Lee, Susan Gerty, Lynette Gill, Emma Newton, Julie Howard, Rachel Williams, Christie Norris, Andrew N Stephens, Erin Tutty, Courtney Smyth, Shona O'Connell, Thomas Jobling, Colin J R Stewart, Adeline Tan, Stephen B Fox, Nicholas Pachter, Jason Li, Jason Ellul, Gisela Mir Arnau, Mary-Anne Young, Louisa G Gordon, Laura Forrest, Marion Harris, Karen Livingstone, Jane Hill, Georgia Chenevix-Trench, Paul Andrew Cohen, Penelope M Webb, Michael L Friedlander, Paul A James, David D L Bowtell, Kathryn Alsop, null null
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 40 (18) (2022)
Deborah Smith, Kristy P Robledo, Sonia Yip, Michelle M Cummins, Peey Sei Kok, Yeh Chen Lee, Michael Friedlander, Sally Baron-Hay, Catherine Shannon, Jermaine I G Coward, Philip Beale, Geraldine Goss, Tarek M Meniawy, Janine Lombard, Amanda B Spurdle, John Andrews, Martin R Stockler, Linda Mileshkin, Yoland C Antill, null null
Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). Cancers 15 (1) (2022)
Deborah Smith, Kristy P Robledo, Sonia Yip, Michelle M Cummins, Peey Sei Kok, Yeh Chen Lee, Michael Friedlander, Sally Baron-Hay, Catherine Shannon, Jermaine I G Coward, Philip Beale, Geraldine Goss, Tarek M Meniawy, Janine Lombard, Amanda B Spurdle, John Andrews, Martin R Stockler, Linda Mileshkin, Yoland C Antill, null null
Results of PD-L1 Analysis of Women Treated with Durvalumab in Advanced Endometrial Carcinoma (PHAEDRA). Cancers 15 (1) (2022)
Aimee L Davidson, Olga Kondrashova, Conrad Leonard, Scott Wood, Emma Tudini, Georgina E Hollway, John V Pearson, Felicity Newell, Amanda B Spurdle, Nicola Waddell
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions. Human mutation (2022)
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe G Dennis, George A R Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, Joan Brunet, Saundra S Buys, Maria A Caligo, Ian G Campbell, Wendy K Chung, Kathleen B M Claes, null null, null null, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J Couch, Mary B Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M Domchek, Alan Donaldson, Jacqueline Eason, Douglas F Easton, Hans Ehrencrona, Christoph Engel, D Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A Gayther, Andrea Gehrig, Paul Gesta, Andrew K Godwin, David E Goldgar, Mark H Greene, Eric Hahnen, Christopher R Hake, Ute Hamann, Thomas V O Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J Hulick, Evgeny N Imyanitov, null null, null null, null null, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Joseph Vijai, Beth Y Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro Garcia, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L Mai, Siranoush Manoukian, Véronique Mari, John W M Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Ana Osorio, Claus-Eric Ott, Sue-Kyung Park, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C Rodriguez, Karina Rønlund, Efraim H Rosenberg, Maria Rossing, Rita K Schmutzler, Payal D Shah, Saba Sharif, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R Teixeira, Soo-Hwang Teo, Mads Thomassen, Darcy L Thull, Marc Tischkowitz, Amanda Ewart Toland, Alison H Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J vanRensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N Weitzel, Marijke R Wevers, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Logan C Walker
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications biology 5 (1) (2022)
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud-Bataille, Sandrine M Caputo, Virginie Caux-Moncoutier, Nadia Boutry-Kryza, Françoise Bonnet-Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T Parsons, Amanda B Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Human mutation (2022)
Pik-Fang Kho, Xuemin Wang, Gabriel Cuellar-Partida, Thilo Dörk, Ellen L Goode, Diether Lambrechts, Rodney J Scott, Amanda B Spurdle, Tracy A O'Mara, Dylan M Glubb
Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility. Communications biology 4 (1) (2021)
Cristina Fortuno, Tina Pesaran, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Sean V Tavtigian, David Goldgar, Amanda B Spurdle, Paul A James
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Human mutation 42 (10) (2021)
Sharon E Johnatty, Tina Pesaran, Jill S Dolinsky, Amal Yussuf, Holly LaDuca, Paul A James, Tracy A O'Mara, Amanda B Spurdle
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Human mutation 42 (10) (2021)
Emilia Ip, Catriona McNeil, Peter Grimison, Tahlia Scheinberg, Emma Tudini, Gladys Ho, Rodney J Scott, Christina Brown, Charbel Sandroussi, Pascale Guitera, Amanda B Spurdle, Annabel Goodwin
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype. Journal of medical genetics (2021)
Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar, Haydeliz Martinez-Ruiz, Francesca Damiola, Laure Barjhoux, Mads Thomassen, Lars V B Andersen, Carmen Herranz, Francesca Mateo, Luis Palomero, Roderic Espín, Antonio Gómez, Nadia García, Daniel Jimenez, Núria Bonifaci, Ana I Extremera, Julio Castaño, Angel Raya, Eduardo Eyras, Xose S Puente, Joan Brunet, Conxi Lázaro, null null, null null, Paolo Radice, Daniel R Barnes, Antonis C Antoniou, Amanda B Spurdle, Miguel de la Hoya, Diana Baralle, Mary Helen Barcellos-Hoff, Miguel Angel Pujana
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Human mutation 42 (11) (2021)
Jue-Sheng Ong, Suzanne C Dixon-Suen, Xikun Han, Jiyuan An, null null, null null, Upekha Liyanage, Jean-Cluade Dusingize, Johannes Schumacher, Ines Gockel, Anne C Böhmer, Janusz Jankowski, Claire Palles, Tracy A O'Mara, Amanda B Spurdle, Matthew H Law, Mark M Iles, Paul David Peter Pharoah, Andrew Berchuck, Quan Long, Aaron P Thrift, Catherine M Olsen, Rachel E Neale, Puya Gharahkhani, Penelope M Webb, Stuart Macgregor
A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization. Nature communications 12 (1) (2021)
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Melissa S Cline, Giulia Babbi, Sandra Bonache, Yue Cao, Rita Casadio, Xavier de la Cruz, Orland Díez, Sara Gutiérrez-Enríquez, Panagiostis Katsonis, Carmen Lai, Olivier Lichtarge, Pier Luigi Martelli, Gilad Mishne, Alejandro Moles-Fernández, Gemma Montalban, Sean D Mooney, Robert O'Conner, Lars Ootes, Selen Özkan, Natalia Padilla, Kymberleigh A Pagel, Vikas Pejaver, Predrag Radivojac, Casandra Riera, Castrense Savojardo, Yang Shen, Yuanfei Sun, Scott Topper, Michael T Parsons, Amanda B Spurdle, David E Goldgar, null null
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Human mutation 40 (9) (2019)
Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A Agnarsson, Munaza Ahmed, Kristiina Aittomäki, Elisa Alducci, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Daniel R Barnes, Alicia Barroso, Daniel Barrowdale, Muriel Belotti, Javier Benitez, Birgitte Bertelsen, Marinus J Blok, Istvan Bodrogi, Valérie Bonadona, Bernardo Bonanni, Davide Bondavalli, Susanne E Boonen, Julika Borde, Ake Borg, Angela R Bradbury, Angela Brady, Carole Brewer, Joan Brunet, Bruno Buecher, Saundra S Buys, Santiago Cabezas-Camarero, Trinidad Caldés, Almuth Caliebe, Maria Adelaide Caligo, Mariarosaria Calvello, Ian G Campbell, Ileana Carnevali, Estela Carrasco, Tsun L Chan, Annie T W Chu, Wendy K Chung, Kathleen B M Claes, Gemo Study Collaborators, Embrace Collaborators, Jackie Cook, Laura Cortesi, Fergus J Couch, Mary B Daly, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de la Hoya, Lara Della Puppa, Joe G Dennis, Orland Díez, Yuan Chun Ding, Nina Ditsch, Susan M Domchek, Alan Donaldson, Bernd Dworniczak, Douglas F Easton, Diana M Eccles, Rosalind A Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Dafydd Gareth Evans, Laurence Faivre, Ulrike Faust, Lídia Feliubadaló, Lenka Foretova, Florentia Fostira, George Fountzilas, Debra Frost, Vanesa García-Barberán, Pilar Garre, Marion Gauthier-Villars, Lajos Géczi, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Gord Glendon, Andrew K Godwin, David E Goldgar, Mark H Greene, Angelica M Gutierrez-Barrera, Eric Hahnen, Ute Hamann, Jan Hauke, Natalie Herold, Frans B L Hogervorst, Ellen Honisch, John L Hopper, Peter J Hulick, KConFab Investigators, Hebon Investigators, Louise Izatt, Agnes Jager, Paul A James, Ramunas Janavicius, Uffe Birk Jensen, Thomas Dyrso Jensen, Oskar Th Johannsson, Isabelle Durot, Joseph Vijai, Eunyoung Kang, Karin Kast, Johanna I Kiiski, Sung-Won Kim, Kwang-Pil Ko, Irene Konstantopoulou, Gero Kramer, Lotte Krogh, Torben A Kruse, Ava Kwong, Mirjam Larsen, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Jihyoun Lee, Jong Won Lee, Min Hyuk Lee, Johannes Lemke, Fabienne Lesueur, Annelie Liljegren, Annika Lindblom, Patricia Llovet, Adria Lopez-Fernández, Irene Lopez-Perolio, Victor Lorca, Jennifer T Loud, Edmond S K Ma, Phuong L Mai, Siranoush Manoukian, Veronique Mari, Lynn Martin, Laura Matricardi, Noura Mebirouk, Veronica Medici, Hanne E J Meijers-Heijboer, Alfons Meindl, Arjen R Mensenkamp, Clare Miller, Denise Molina Gomes, Marco Montagna, Thea M Mooij, Lidia Moserle, Emmanuelle Mouret-Fourme, Anna Marie Mulligan, Katherine L Nathanson, Marie Navratilova, Heli Nevanlinna, Dieter Niederacher, Finn C Cilius Nielsen, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Claus-Eric Ott, Domenico Palli, Sue-Kyung Park, Michael T Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Pedro Pérez-Segura, Paolo Peterlongo, Annabeth Høgh Petersen, Mary E Porteous, Miguel Angel Pujana, Paolo Radice, Juliane Ramser, Johanna Rantala, Muhammad U Rashid, Kerstin Rhiem, Piera Rizzolo, Mark E Robson, Matti A Rookus, Caroline M Rossing, Kathryn J Ruddy, Catarina Santos, Claire Saule, Rosa Scarpitta, Rita K Schmutzler, Hélène Schuster, Leigha Senter, Caroline M Seynaeve, Payal Deepak Shah, Priyanka Sharma, Vivian Y Shin, Valentina Silvestri, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Katie Snape, Angela R Solano, Penny Soucy, Melissa C Southey, Amanda B Spurdle, Linda Steele, Doris Steinemann, Dominique Stoppat-Lyonnet, Agostina Stradella, Lone Sunde, Christian Sutter, Yen Y Tan, Manuel R Teixeira, Soo-Hwang Teo, Mads Thomassen, Maria Grazia Tibiletti, Marc Tischkowitz, Silvia Tognazzo, Amanda E Toland, Stefania Tommasi, Diana Torres, Angela Toss, Alison H Trainer, Nadine Tung, Christi J van Asperen, Frederieke H van der Baan, Lizet E van der Kolk, Rob B van der Luijt, Liselotte P van Hest, Liliana Varesco, Raymonda Varon-Mateeva, Alessandra Viel, Jeroen Vierstraete, Roberta Villa, Anna von Wachenfeldt, Philipp Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Greet Wieme, Siddhartha Yadav, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Kristin K Zorn, Anthony V D'Amico, Matthew L Freedman, Mark M Pomerantz, Georgia Chenevix-Trench, Antonis C Antoniou, Susan L Neuhausen, Laura Ottini, Henriette Roed Nielsen, Timothy R Rebbeck
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer research 80 (3) (2019)
Tracy A O'Mara, Amanda B Spurdle, Dylan M Glubb, null null
Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci. Cancers 11 (10) (2019)
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fátima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman, Pardeep Kaurah, Chimene Kesserwan, Tyler Landrith, Shuwei Li, Arjen R Mensenkamp, Carla Oliveira, Carolina Pardo, Tina Pesaran, Matthew Richardson, Thomas P Slavin, Amanda B Spurdle, Mackenzie Trapp, Leora Witkowski, Charles S Yi, Liying Zhang, Sharon E Plon, Kasmintan A Schrader, Rachid Karam
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Human mutation 39 (11) (2019)
Cristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, Sean V Tavtigian, Magali Olivier, Vatsal Ruparel, Ygal Haupt, Sue Haupt, International Sarcoma Kindred Study, Kathy Tucker, Amanda B Spurdle, David M Thomas, Paul A James
A quantitative model to predict pathogenicity of missense variants in the TP53 gene. Human mutation 40 (6) (2019)
Christina M Nagle, T Ibiebele, N Shivappa, J R Hébert, Amanda B Spurdle, Penelope M Webb, null null
Dietary inflammatory index, risk and survival among women with endometrial cancer. Cancer causes & control : CCC 31 (2) (2019)
Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike Pg Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Journal of medical genetics 56 (6) (2019)
Rita D Brandão, Klaas Mensaert, Irene López-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa L Lattimore, Logan C Walker, Anders Kvist, Ana Vega, Sara Gutiérrez-Enríquez, Orland Diez, null null, Miguel de la Hoya, Amanda B Spurdle, Tim De Meyer, Marinus J Blok
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. International journal of cancer 145 (2) (2019)
Tracy A O'Mara, Dylan M Glubb, Pik-Fang Kho, Deborah J Thompson, Amanda B Spurdle
Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 28 (7) (2019)
Sharon E Johnatty, Colin J R Stewart, Deborah Smith, Daniel D Buchanan, Yee Leung, Martin K Oehler, Alison Brand, Penelope M Webb, Amanda B Spurdle
Risk and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis. Cancer medicine 7 (12) (2018)
Leslie J Burke, Jan Sevcik, Gaetana Gambino, Emma Tudini, Eliseos J Mucaki, Ben C Shirley, Phillip Whiley, Michael T Parsons, Kim De Leeneer, Sara Gutiérrez-Enríquez, Marta Santamariña, Sandrine M Caputo, Elizabeth Santana Dos Santos, Jana Soukupova, Marketa Janatova, Petra Zemankova, Klara Lhotova, Lenka Stolarova, Mariana Borecka, Alejandro Moles-Fernández, Siranoush Manoukian, Bernardo Bonanni, null null, Stacey L Edwards, Marinus J Blok, Thomas van Overeem Hansen, Maria Rossing, Orland Diez, Ana Vega, Kathleen B M Claes, David E Goldgar, Etienne Rouleau, Paolo Radice, Paolo Peterlongo, Peter K Rogan, Maria Caligo, Amanda B Spurdle, Melissa A Brown
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Human mutation 39 (12) (2018)
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal S Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven M Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Michael J Bamshad, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean V Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, null null, John Burn, Stephen J Chanock, Gunnar Rätsch, Amanda B Spurdle
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS genetics 14 (12) (2018)
Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M Schildkraut, Hae Kyung Im, Yian A Chen, Jennifer B Permuth, Brett M Reid, Jamie K Teer, Kirsten B Moysich, Irene L Andrulis, Hoda Anton-Culver, Banu K Arun, Elisa V Bandera, Rosa B Barkardottir, Daniel R Barnes, Javier Benitez, Line Bjorge, James Brenton, Ralf Butzow, Trinidad Caldés, Maria Adelaide Caligo, Ian Campbell, Jenny Chang-Claude, Kathleen B M Claes, Fergus J Couch, Daniel W Cramer, Mary B Daly, Anna De Fazio, Joe G Dennis, Orland Diez, Susan M Domchek, Thilo Dörk, Douglas F Easton, Diana M Eccles, Peter Andreas Fasching, Renée Turzanski Fortner, George Fountzilas, Eitan Friedman, Patricia A Ganz, Judy E Garber, Graham G Giles, Andrew K Godwin, David E Goldgar, Marc T Goodman, Mark H Greene, Jacek Gronwald, Ute Hamann, Florian Heitz, Michelle A T Hildebrandt, Claus K Høgdall, Antoinette Hollestelle, Peter J Hulick, David G Huntsman, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Paul A James, Beth Y Karlan, Linda E Kelemen, Lambertus A L M Kiemeney, Susanne K Kjaer, Ava Kwong, Nhu D Le, Goska Leslie, Fabienne Lesueur, Douglas A Levine, Amalia Mattiello, Taymaa May, Lesley McGuffog, Iain A McNeish, Melissa A Merritt, Francesmary Modugno, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Finn C Nielsen, Liene Nikitina-Zake, Robert Luke Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sara H Olson, Håkan Olsson, Ana Osorio, Sue-Kyung Park, Michael T Parsons, Petra H M Peeters, Tanja Pejovic, Paolo Peterlongo, Catherine M Phelan, Miguel Angel Pujana, Susan J Ramus, Gadi Rennert, Harvey Risch, Gustavo C Rodriguez, Cristina Rodríguez-Antona, Isabelle Romieu, Matti A Rookus, Mary Anne Rossing, Iwona K Rzepecka, Dale R Sandler, Rita K Schmutzler, Veronica W Setiawan, Priyanka Sharma, Weiva Sieh, Jacques Simard, Christian F Singer, Honglin Song, Melissa C Southey, Amanda B Spurdle, Rebecca Sutphen, Anthony J Swerdlow, Manuel R Teixeira, Soo-Hwang Teo, Mads Thomassen, Marc Tischkowitz, Amanda E Toland, Antonia Trichopoulou, Nadine Tung, Shelley T Tworoger, Elizabeth J vanRensburg, Adriaan Vanderstichele, Ana Vega, Digna Velez Edwards, Penelope M Webb, Jeffrey N Weitzel, Nicolas Wentzensen, Emily White, Alicja Wolk, Anna H Wu, Drakoulis Yannoukakos, Kristin K Zorn, Simon A Gayther, Antonis C Antoniou, Andrew Berchuck, Ellen L Goode, Georgia Chenevix-Trench, Thomas A Sellers, Paul D P Pharoah, Wei Zheng, Jirong Long
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer research 78 (18) (2018)
Emma Tudini, Setareh Moghadasi, Michael T Parsons, Lizet van der Kolk, Ans M W van den Ouweland, Dieter Niederacher, Lídia Feliubadaló, Barbara Wappenschmidt, Amanda B Spurdle, Conxi Lazaro
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val). Breast cancer research and treatment 172 (2) (2018)
Cristina Fortuno, Paul A James, Amanda B Spurdle
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. Human mutation 39 (12) (2018)
Christina M Nagle, Tracy A O'Mara, Yen Tan, Daniel D Buchanan, Andreas Obermair, Penny Blomfield, Michael A Quinn, Penelope M Webb, Amanda B Spurdle, null null
Endometrial cancer risk and survival by tumor MMR status. Journal of gynecologic oncology 29 (3) (2018)
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Human mutation 39 (8) (2018)

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Amanda B Spurdle (Amanda Spurdle, A B Spurdle)