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

DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells

Autor: Cynthia Hawkins, Daniel A. Morgenstern, Victoria J. Forster, Scott Lindhorst, Sumedha Sudhaman, Uri Tabori, An Van Damme, Eric Bouffet, Alexander Lossos, Ben George, Annika Bronsema, Anita Villani, Michael Osborn, Annie Huang, Yosef E. Maruvka, Melyssa Aronson, Patrick Tomboc, Michal Yalon-Oren, David S. Ziegler, Reid Hayes, Carol Durno, Vanessa Bianchi, Melissa Galati, Nuno Miguel Nunes, Magimairajan Issai Vanan, Vanja Cabric, Gregory Thomas, Nicholas Light, Scott Davidson, Matthew Zatzman, Michael D. Taylor, A. Sorana Morrissy, Martin Komosa, Melissa Edwards, Gary Mason, Jiil Chung, Adam Shlien, Gad Getz, Shriya Deshmukh, Alyssa Reddy, Karl P. Hodel, Zachary F. Pursell, Robert Siddaway, Maura Massimino, Enrico Opocher, Ledia Brunga, David Malkin, Ben Ho, Jacalyn Kelly, Daniel C. Bowers, Nathaniel D. Anderson, Valerie Larouche, Thomas A. Kunkel, Nicholas J. Haradhvala, Kristina A. Cole

Publikováno v: Cancer Discov
Cancer discovery, Vol. 11, no. 5, p. 1176-1191 (2021)

Although replication repair deficiency, either by mismatch repair deficiency (MMRD) and/or loss of DNA polymerase proofreading, can cause hypermutation in cancer, microsatellite instability (MSI) is considered a hallmark of MMRD alone. By genome-wide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de55153537729f642eb68eecd06318c8
https://doi.org/10.1158/2159-8290.cd-20-0790

Life without mismatch repair

Autor: Yvette Hooks, Mathijs A. Sanders, Scott Lindhorst, Christoffer Flensburg, Patrick Tomboc, Peter J. Campbell, Michael R. Stratton, Philip S. Robinson, Vanessa Bianchi, Moritz Gerstung, Tim H. H. Coorens, Agnes Reschke, Luiza Moore, Harald Vöhringer, Uri Tabori, Victoria J. Forster, Tim Butler, Brittany Campbell, Henry Lee-Six, Adam Shlien, Ultan McDermott, Duncan Stearns, Rebecca A. Bilardi, Melissa Edwards, Bruce Crooks, Ian J. Majewski, Elizabeth Cairney

Mismatch repair (MMR) is a critical defence against mutation, but we lack quantification of its activity on different DNA lesions during human life. We performed whole-genome sequencing of normal and neoplastic tissues from individuals with constitut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::077ce093748fea5147aefd7c18b8e3f5
https://doi.org/10.1101/2021.04.14.437578

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Autor: Anirban Das, Sumedha Sudhaman, Daniel Morgenstern, Ailish Coblentz, Jiil Chung, Simone C. Stone, Noor Alsafwani, Zhihui Amy Liu, Ola Abu Al Karsaneh, Shirin Soleimani, Hagay Ladany, David Chen, Matthew Zatzman, Vanja Cabric, Liana Nobre, Vanessa Bianchi, Melissa Edwards, Lauren C, Sambira Nahum, Ayse B. Ercan, Arash Nabbi, Shlomi Constantini, Rina Dvir, Michal Yalon-Oren, Gadi Abebe Campino, Shani Caspi, Valerie Larouche, Alyssa Reddy, Michael Osborn, Gary Mason, Scott Lindhorst, Annika Bronsema, Vanan Magimairajan, Enrico Opocher, Rebecca Loret De Mola, Magnus Sabel, Charlotta Frojd, David Sumerauer, David Samuel, Kristina Cole, Stefano Chiaravalli, Maura Massimino, Patrick Tomboc, David S. Ziegler, Ben George, An Van Damme, Nobuko Hijiya, David Gass, Rose B. McGee, Oz Mordechai, Daniel C. Bowers, Theodore W. Laetsch, Alexander Lossos, Deborah T. Blumenthal, Tomasz Sarosiek, Lee Yi Yen, Jeffrey Knipstein, Anne Bendel, Lindsey M. Hoffman, Sandra Luna-Fineman, Stefanie Zimmermann, Isabelle Scheers, Kim E. Nichols, Michal Zapotocky, Jordan R. Hansford, John M. Maris, Peter Dirks, Michael D. Taylor, Abhaya V. Kulkarni, Manohar Shroff, Derek S. Tsang, Anita Villani, Wei Xu, Melyssa Aronson, Carol Durno, Adam Shlien, David Malkin, Gad Getz, Yosef E. Maruvka, Pamela S. Ohashi, Cynthia Hawkins, Trevor J. Pugh, Eric Bouffet, Uri Tabori

Publikováno v: Nature Medicine
Nature medicine, vol 28, iss 1
Nature medicine, Vol. 28, no.1, p. 125-135 (2022)

Cancers arising from germline DNA mismatch repair deficiency or polymerase proofreading deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite insertion–deletion (MS-indel) burden in humans. MMRD and PPD cancers are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb7dc403f421b7ed11f8f82fa83cb014
https://pubmed.ncbi.nlm.nih.gov/34992263

HGG-20. DIAGNOSTIC AND BIOLOGICAL ROLE OF METHYLATION PATTERNS IN REPLICATION REPAIR DEFICIENT HIGH GRADE GLIOMAS

Autor: Eric Bouffet, Warren P. Mason, David Samuel, An Van Damme, Alexander Lossos, Bruce Crooks, Syed Ahmer Hamid, Ashraf Shamvil, Uri Tabori, Kohei Fukuoka, Andrew Dodgshun, Alexandra Sexton-Oates, Jordan R. Hansford, Patrick Tomboc, David R. Jones, Alan Mackay, Vanessa Bianchi, David S. Ziegler, Gregory Thomas, Shlomi Constantini, Duncan Stearns, Michal Yalon, Scott Lindhorst, Jagadeesh Ramdas, Roula Farah, Maura Massimino, Enrico Opocher, Michael J. Sullivan, Vanan Magimairajan, Kristina A. Cole, Valerie Larouche, Stefano Chiaravalli, Chris Jones, Vijay Ramaswamy, Melissa Edwards, Gary Mason, Cynthia Hawkins

Publikováno v: Neuro-Oncology

Replication repair deficiency (RRD) is an important driving mechanism of pediatric high grade glioma (pHGG) occurring predominantly in the context of germline mutations in RRD-associated genes. Although pHGG present specific patterns of DNA methylati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5941fca0d8c87f0e674c2d57d42d856
http://europepmc.org/articles/PMC7715189