Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an Internat...
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
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Ercan, Ayse Bahar, BSc , Fernandez, Nicholas R, BSc , Chang, Yuan, BSc , Liu, Zhihui Amy, PhD , Negm, Logine, BSc , Bianchi, Vanessa, PhD , Stengs, Lucie, BSc , Chung, Jiil, PhD , Reschke, Agnes, MD , Lion, Alex, DO , Ahmad, Alia, FRCPCH , Lassaletta, Alvaro, MD , Al-Darraji, Amir F, MD , Shah, Amish C, MD , Van Damme, An, MD , Bendel, Anne, MD , Rashid, Aqeela, MD , Margol, Ashley S, MD , Kelly, Bethany L, CGC , Heald, Brandie, MS , Crooks, Bruce, MBChB , Koschmann, Carl, MD , Gilpin, Catherine, CCGC , Porter, Christopher C, Prof , Gass, David, MD , Samuel, David, MD , Ziegler, David S, Prof , Blumenthal, Deborah T, Prof , Kuo, Dennis John, Prof , Basel, Donald, Prof , Opocher, Enrico, MD , Carceller, Fernando, MD , Toledano, Helen, MBChB , Winer, Ira, MD , Scheers, Isabelle, MD , Fedorakova, Ivana, MD , Su, Jack M, MD , Vengoechea, Jaime, MD , Sterba, Jaroslav, Prof , Knipstein, Jeffrey, MD , Hansford, Jordan R, MBBS , Gonzales-Santos, Julieta Rita, MD , Bhatia, Kanika, FRACP , Minhas, Khurram, FRCPath , Nichols, Kim E, Prof , Cole, Kristina A, MD , Penney, Lynette, MD , Hjort, Magnus Aasved, MD , Gil-da-Costa, Maria Joao, MD , Murray, Matthew J, Prof , Miller, Matthew, MD , Blundell, Maude L, CGC , Al-Jadiry, Mazin F, Prof , Comito, Melanie A, MD , Zapotocky, Michal, MD , Ghalibafian, Mithra, MD , Shaheen, Najma, MD , Mushtaq, Naureen, MD , Waespe, Nicolas, MD , Hijiya, Nobuko, Prof , Ahmad, Olfat, MD , Chamdine, Omar, MD , Roy, Paromita, MD , Pichurin, Pavel N, MD , Pearlman, Rachel, MSc , Auer, Rebecca C, Prof , Sukumaran, Reghu K, MD , Dvir, Rina, MD , Elhasid, Ronit, Prof , McGee, Rose B, MS , Chami, Rose, MD , Noss, Ryan, MS , Raskin, Salmo, MD , Sen, Santanu, FRCPCH , Perreault, Sebastien, MD , Caspi, Shani, MD , Constantini, Shlomi, Prof , Chaleff, Stanley, MD , Bielack, Stefan, Prof , Chiaravalli, Stefano, MD , Cramer, Stuart Louis, DO , Roy, Sumita, MD , Cahn, Suzanne, CGC , Penna, Suzanne, PhD , Hamid, Syed Ahmer, MBBS , Ghafoor, Tariq, Prof , Imam, Uzma, MD , Larouche, Valerie, MD , Magimairajan Issai, Vanan, MD , Foulkes, William D, Prof , Lee, Yi Yen, MD , Nathan, Paul C, Prof , Maruvka, Yosef E, PhD , Greer, Mary-Louise C, MBBS , Shlien, Adam, PhD , Ertl-Wagner, Birgit, MD , Villani, Anita, MD , Malkin, David, MD , Hawkins, Cynthia, Prof and Bouffet, Eric, Prof
Publisher
England: Elsevier Ltd
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English
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England: Elsevier Ltd
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Contents
SummaryBackgroundConstitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD. Met...
Alternative Titles
Full title
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
Authors, Artists and Contributors
Author / Creator
Fernandez, Nicholas R, BSc
Chang, Yuan, BSc
Liu, Zhihui Amy, PhD
Negm, Logine, BSc
Bianchi, Vanessa, PhD
Stengs, Lucie, BSc
Chung, Jiil, PhD
Reschke, Agnes, MD
Lion, Alex, DO
Ahmad, Alia, FRCPCH
Lassaletta, Alvaro, MD
Al-Darraji, Amir F, MD
Shah, Amish C, MD
Van Damme, An, MD
Bendel, Anne, MD
Rashid, Aqeela, MD
Margol, Ashley S, MD
Kelly, Bethany L, CGC
Heald, Brandie, MS
Crooks, Bruce, MBChB
Koschmann, Carl, MD
Gilpin, Catherine, CCGC
Porter, Christopher C, Prof
Gass, David, MD
Samuel, David, MD
Ziegler, David S, Prof
Blumenthal, Deborah T, Prof
Kuo, Dennis John, Prof
Basel, Donald, Prof
Opocher, Enrico, MD
Carceller, Fernando, MD
Toledano, Helen, MBChB
Winer, Ira, MD
Scheers, Isabelle, MD
Fedorakova, Ivana, MD
Su, Jack M, MD
Vengoechea, Jaime, MD
Sterba, Jaroslav, Prof
Knipstein, Jeffrey, MD
Hansford, Jordan R, MBBS
Gonzales-Santos, Julieta Rita, MD
Bhatia, Kanika, FRACP
Minhas, Khurram, FRCPath
Nichols, Kim E, Prof
Cole, Kristina A, MD
Penney, Lynette, MD
Hjort, Magnus Aasved, MD
Gil-da-Costa, Maria Joao, MD
Murray, Matthew J, Prof
Miller, Matthew, MD
Blundell, Maude L, CGC
Al-Jadiry, Mazin F, Prof
Comito, Melanie A, MD
Zapotocky, Michal, MD
Ghalibafian, Mithra, MD
Shaheen, Najma, MD
Mushtaq, Naureen, MD
Waespe, Nicolas, MD
Hijiya, Nobuko, Prof
Ahmad, Olfat, MD
Chamdine, Omar, MD
Roy, Paromita, MD
Pichurin, Pavel N, MD
Pearlman, Rachel, MSc
Auer, Rebecca C, Prof
Sukumaran, Reghu K, MD
Dvir, Rina, MD
Elhasid, Ronit, Prof
McGee, Rose B, MS
Chami, Rose, MD
Noss, Ryan, MS
Raskin, Salmo, MD
Sen, Santanu, FRCPCH
Perreault, Sebastien, MD
Caspi, Shani, MD
Constantini, Shlomi, Prof
Chaleff, Stanley, MD
Bielack, Stefan, Prof
Chiaravalli, Stefano, MD
Cramer, Stuart Louis, DO
Roy, Sumita, MD
Cahn, Suzanne, CGC
Penna, Suzanne, PhD
Hamid, Syed Ahmer, MBBS
Ghafoor, Tariq, Prof
Imam, Uzma, MD
Larouche, Valerie, MD
Magimairajan Issai, Vanan, MD
Foulkes, William D, Prof
Lee, Yi Yen, MD
Nathan, Paul C, Prof
Maruvka, Yosef E, PhD
Greer, Mary-Louise C, MBBS
Shlien, Adam, PhD
Ertl-Wagner, Birgit, MD
Villani, Anita, MD
Malkin, David, MD
Hawkins, Cynthia, Prof
Bouffet, Eric, Prof
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_338586
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_338586
Other Identifiers
ISSN
1470-2045,1474-5488
E-ISSN
1474-5488
DOI
10.1016/S1470-2045(24)00026-3
