Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Autor: Lee Yi Yen, Melyssa Aronson, Carol J. Swallow, Cynthia Hawkins, Lara Reichman, Rebecca C. Luiten, Sumita Roy, Michal Zapotocky, Patrick Tomboc, Christian Kratz, Michael Osborn, Junne Kamihara, Ayse Bahar Ercan, Jamie L. Maciaszek, Vanessa Bianchi, Benjamin Oshrine, Hagit N. Baris, Ossama M. Maher, Mohsin Rashid, Sara Rhode, Sharon Gardner, Annika Bronsema, David S. Ziegler, An Van Damme, Monica Newmark, Mithra Ghalibafian, Heather Hampel, Jordan R. Hansford, Vahid Fallah Azad, Michael P. Link, Simon C. Ling, Marc Remke, Shayna Zelcer, Deborah T. Blumenthal, Isabelle Scheers, Rebecca Loret De Mola, Syed Ahmer Hamid, Vanan MagimairajanIssai, Kim E. Nichols, Saunders Hsu, Catherine Goudie, Naureen Mushtaq, Ira Winer, Abeer Al-Battashi, Garth Nicholas, Roula Farah, Kami Wolfe Schneider, Rejin Kebudi, Jan Rapp, Gregory Thomas, Helen Toledano, Alvaro Lassaletta, Anne Bendel, Jeffrey Knipstein, Musa Alharbi, Gadi Abebe-Campino, Rose B. McGee, Anirban Das, Uri Tabori, Donald Basel, Alyssa Reddy, Melissa Edwards, Scott Lindhorst, Craig Harlos, Bailey Gallinger, Elizabeth Cairney, Anita Villani, Valerie Larouche, Rachel Pearlman, Maude Blundell, Gary Mason, David Sumerauer, Magnus Sabel, Aghiad Chamdin, Leslie Taylor, David Malkin, William D. Foulkes, Maura Massimino, Catherine Gilpin, Eric Bouffet, Miriam Bornhorst, Carol Durno, Enrico Opocher, Nobuko Hijiya, Zehavit Frenkel, David Samuel, Michal Lurye, Stefanie Zimmermann, Shani Caspi, Stefano Chiaravalli, David Gass, Eshetu G. Atenafu, Shlomi Constantini, Shay Ben-Shachar, Michal Yalon, Rina Dvir, Daniel Pettee, Bruce Crooks, Santanu Sen, Carl Koschmann, Raymond Bedgood, Theodore Nicolaides, Duncan Stearns, Yael Goldberg, Melissa Galati, Gabriel Robbins

Publikováno v: Paediatrics Publications
Journal of Clinical Oncology, Vol. 39, no.25, p. 2779-2790 (2021)

PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc31eca9b2efe8b55ac14084ca85e170
https://doi.org/10.1200/jco.20.02636

RARE-17. SURVIVAL BENEFIT FOR INDIVIDUALS WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME AND BRAIN TUMORS WHO UNDERGO SURVEILLANCE PROTOCOL. A REPORT FROM THE INTERNATIONAL REPLICATION REPAIR CONSORTIUM

Autor: Scott Lindhorst, Jan Rapp, Deborah T. Blumenthal, Carl Koschmann, Mithra Ghalibafian, Rebecca Loret De Mola, Daniel Pettee, Garth Nicholas, Roula Farah, Raymond Bedgood, Aghiad Chamdin, Donald Basel, Valerie Larouche, Michal Yalon, Michal Lurye, Monica Newmark, Rachel Pearlman, Theodore Nicolaides, William D. Foulkes, Eric Bouffet, Shlomi Constantini, Shayna Zelcer, Maura Massimino, Duncan Stearns, Enrico Opocher, Saunders Hsu, Gabriel Robbins, Michael P. Link, Naureen Mushtaq, Ira Winer, Alyssa Reddy, Ayse Bahar Ercan, Rina Dvir, Zehavit Frenkel, Rebecca C. Luiten, An Van Damme, Miriam Bornhorst, Michal Zapotocky, Syed Ahmer Hamid, Sharon Gardner, Alvaro Lassaletta, Catherine Goudie, Melissa Edwards, Carol Durno, David Samuel, Anne Bendel, Mohsin Rashid, Kim E. Nichols, Sara Carroll, Junne Kamihara, Vahid Fallah Azad, Melyssa Aronson, Craig Harlos, Patrick Tomboc, Jordan R. Hansford, Vanessa Bianchi, Santanu Sen, Michael Osborn, Jamie L. Maciaszek, Benjamin Oshrine, Cathy Gilpin, Isabelle Scheers, Abeer Al-Battashi, David S. Ziegler, Marc Remke, Jeffrey Knipstein, Anirban Das, Uri Tabori, Stefano Chiaravalli, Carol J. Swallow, Magnus Sabel, Ossama M. Maher, Annika Bronsema, Stefanie Zimmerman, Lee Yi Yen, Lara Reichman, Simon C. Ling, Vanan Magimairajan, David Sumerauer, Nobuko Hijiya, Helen Toledano, Musa Alharbi, Leslie Taylor, Elizabeth Cairney

Publikováno v: Neuro-Oncology

BACKGROUND Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c83ff109933b99d95c03cb7d71d296
http://europepmc.org/articles/PMC7715879

The Use of the Internet in Data Assimilation in Rare Diseases.

Autor: Raymond Bedgood, Rafal Sadurski, Robert Schade

Publikováno v: Digestive Diseases & Sciences; Feb2007, Vol. 52 Issue 2, p307-312, 6p