Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Susan Hiraki"'
Autor:
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 Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti
Publikováno v:
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
Abstract Background BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evid
Externí odkaz:
https://doaj.org/article/32f976e151b24f91bbf40981195926b1
Autor:
Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100080- (2023)
Externí odkaz:
https://doaj.org/article/03deca93af2e4cbeabd8d4f36d610a8d
Autor:
Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100095- (2023)
Externí odkaz:
https://doaj.org/article/4293f81e35c44437b2760aac2b4577ae
Autor:
Fergus J. Couch, Kathleen S. Hruska, Steven N. Hart, Eric C. Polley, Alvaro N.A. Monteiro, Siddhartha Yadav, Susan M. Domchek, Jie Na, Huaizhi Huang, Carolyn A. Dunn, Wei Shen, Sounak Gupta, Windy Berkofsky-Fessler, Susan Hiraki, Megan L. Marshall, Hana Yang, Maegan E. Roberts, Lisa R. Susswein, Chunling Hu
Purpose:The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26c222c02a95b441afa5cb027ab26f5b
https://doi.org/10.1158/1078-0432.c.6532509.v1
https://doi.org/10.1158/1078-0432.c.6532509.v1
Autor:
Fergus J. Couch, Kathleen S. Hruska, Steven N. Hart, Eric C. Polley, Alvaro N.A. Monteiro, Siddhartha Yadav, Susan M. Domchek, Jie Na, Huaizhi Huang, Carolyn A. Dunn, Wei Shen, Sounak Gupta, Windy Berkofsky-Fessler, Susan Hiraki, Megan L. Marshall, Hana Yang, Maegan E. Roberts, Lisa R. Susswein, Chunling Hu
Supplementary Table from Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0631fea32022e91b9bf2f3d3c59c8bfc
https://doi.org/10.1158/1078-0432.22487394.v1
https://doi.org/10.1158/1078-0432.22487394.v1
Autor:
Jessica N. Hatton, Megan N. Frone, Hannah C. Cox, Stephanie B. Crowley, Susan Hiraki, Noriko N. Yokoyama, Noura S. Abul-Husn, James F. Amatruda, Michael J. Anderson, Xavier Bofill-De Ros, Ann G. Carr, Elizabeth C. Chao, Kenneth S. Chen, Shuo Gu, Cecilia Higgs, Jerry Machado, Deborah Ritter, Kris Ann P. Schultz, Emily R. Soper, Mona K. Wu, Jessica L. Mester, Jung Kim, William D. Foulkes, Leora Witkowski, Douglas R. Stewart
Publikováno v:
Human Mutation.
Germline pathogenic variants in DICER1 predispose individuals to develop a variety of benign and malignant tumors. Accurate variant curation and classification are essential for reliable diagnosis of DICER1-related tumor predisposition and the identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06fb74ca28123e143c4945b524fb329
Autor:
Chunling Hu, Lisa R. Susswein, Maegan E. Roberts, Hana Yang, Megan L. Marshall, Susan Hiraki, Windy Berkofsky-Fessler, Sounak Gupta, Wei Shen, Carolyn A. Dunn, Huaizhi Huang, Jie Na, Susan M. Domchek, Siddhartha Yadav, Alvaro N.A. Monteiro, Eric C. Polley, Steven N. Hart, Kathleen S. Hruska, Fergus J. Couch
Publikováno v:
Clin Cancer Res
Purpose: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of Medical Geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f913960465ff8ceb0b1ca532ff9cd30
https://europepmc.org/articles/PMC9433957/
https://europepmc.org/articles/PMC9433957/
Autor:
Rachel T. Klein, Lance Grau, Kristen J. Vogel Postula, Lisa R. Susswein, Patricia D. Murphy, Megan L. Marshall, Susan Hiraki
Publikováno v:
Journal of Urology. 201
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39de2fc6ddd3d60ed24f80005aac1547
https://doi.org/10.1097/01.ju.0000556339.32452.db
https://doi.org/10.1097/01.ju.0000556339.32452.db
Autor:
Carole Oddoux, Harry Ostrer, Laurie J. Ozelius, Susan Hiraki, Philip Meyer, Itsik Pe'er, Ariel Darvasi, Inga Peter, Nir Barzilai, Lorraine N. Clark, Kinnari Upadhyay, Brett Baskovich, Jin Yu, Judy H. Cho, Shai Carmi, Todd Lencz, Gil Atzmon
Publikováno v:
Genetics in Medicine. 18:522-528
Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not real
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8594c73d395141930a3b03f82d3aa4c9
https://doi.org/10.1038/gim.2015.123
https://doi.org/10.1038/gim.2015.123
Autor:
Zhixiong Xu, Natalie J. Carter, Kathleen S. Hruska, Susan Hiraki, Rachel T. Klein, Kevin J. Arvai, Lisa R. Susswein, Rebecca I. Torene, Kristin K. Zorn, Megan L. Marshall, Lauren Yackowski, Anna K. McGill, Patricia D. Murphy, Benjamin D. Solomon
Publikováno v:
Gynecologic oncology. 151(3)
The recognition of genes implicated in ovarian cancer risk beyond BRCA1, BRCA2, and the Lynch syndrome genes has increased the variety of testing options available to providers and patients. We report the frequency of pathogenic variants identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83ff799b0ce1fb5f5adb68407e7b684
https://pubmed.ncbi.nlm.nih.gov/30322717
https://pubmed.ncbi.nlm.nih.gov/30322717