Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
ERCAN, Ayse Bahar; Melyssa ARONSON; Nicholas R FERNANDEZ; Yuan CHANG; Adrian LEVINE et al.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
Autoři
ERCAN, Ayse Bahar; Melyssa ARONSON; Nicholas R FERNANDEZ; Yuan CHANG; Adrian LEVINE; Zhihui Amy LIU; Logine NEGM; Melissa EDWARDS; Vanessa BIANCHI; Lucie STENGS; Jiil CHUNG; Abeer AL-BATTASHI; Agnes RESCHKE; Alex LION; Alia AHMAD; Alvaro LASSALETTA; Alyssa T REDDY; Amir F AL-DARRAJI; Amish C SHAH; Van Damme AN; Anne BENDEL; Aqeela RASHID; Ashley S MARGOL; Bethany L KELLY; Bojana PENCHEVA; Brandie HEALD; Brianna LEMIEUX-ANGLIN; Bruce CROOKS; Carl KOSCHMANN; Catherine GILPIN; Christopher C PORTER; David GASS; David SAMUEL; David S ZIEGLER; Deborah T BLUMENTHAL; Dennis John KUO; Dima HAMIDEH; Donald BASEL; Dong-Anh KHUONG-QUANG; Duncan STEARNS; Enrico OPOCHER; Fernando CARCELLER; Hagit Baris FELDMAN; Helen TOLEDANO; Ira WINER; Isabelle SCHEERS; Ivana FEDORAKOVA; Jack M SU; Jaime VENGOECHEA; Jaroslav ŠTĚRBA; Jeffrey KNIPSTEIN; Jordan R HANSFORD; Julieta Rita GONZALES-SANTOS; Kanika BHATIA; Kevin J BIELAMOWICZ; Khurram MINHAS; Kim E NICHOLS; Kristina A COLE; Lynette PENNEY; Magnus Aasved HJORT; Magnus SABEL; Maria Joao GIL-DA-COSTA; Matthew J MURRAY; Matthew MILLER; Maude L BLUNDELL; Maura MASSIMINO; Maysa AL-HUSSAINI; Mazin F AL-JADIRY; Melanie A COMITO; Michael OSBORN; Michael P LINK; Michal ZAPOTOCKY; Mithra GHALIBAFIAN; Najma SHAHEEN; Naureen MUSHTAQ; Nicolas WAESPE; Nobuko HIJIYA; Noemi FUENTES-BOLANOS; Olfat AHMAD; Omar CHAMDINE; Paromita ROY; Pavel N PICHURIN; Per NYMAN; Rachel PEARLMAN; Rebecca C AUER; Reghu K SUKUMARAN; Rejin KEBUDI; Rina DVIR; Robert RAPHAEL; Ronit ELHASID; Rose B MCGEE; Rose CHAMI; Ryan NOSS; Ryuma TANAKA; Salmo RASKIN; Santanu SEN; Scott LINDHORST; Sebastien PERREAULT; Shani CASPI; Shazia RIAZ; Shlomi CONSTANTINI; Sophie ALBERT; Stanley CHALEFF; Stefan BIELACK; Stefano CHIARAVALLI; Stuart Louis CRAMER; Sumita ROY; Suzanne CAHN; Suzanne PENNA; Syed Ahmer HAMID; Tariq GHAFOOR; Uzma IMAM; Valerie LAROUCHE; Vanan Magimairajan ISSAI; William D FOULKES; Yi Yen LEE; Paul C NATHAN; Yosef E MARUVKA; Mary-Louise C GREER; Carol DURNO; Adam SHLIEN; Birgit ERTL-WAGNER; Anita VILLANI; David MALKIN; Cynthia HAWKINS; Eric BOUFFET; Anirban DAS a Uri TABORI
Vydání
Lancet Oncology, New York, Elsevier Science INC, 2024, 1470-2045
Background Constitutional 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.
Návaznosti
MUNI/A/1625/2023, interní kód MU
Název: Personalizovaná léčba v dětské onkologii: na cestě k „liquid dynamic medicine“ a „N-of-1 clinical trials“
Investor: Masarykova univerzita, Personalizovaná léčba v dětské onkologii: na cestě k „liquid dynamic medicine“ a „N-of-1 clinical trials“
ERCAN, Ayse Bahar; Melyssa ARONSON; Nicholas R FERNANDEZ; Yuan CHANG; Adrian LEVINE; Zhihui Amy LIU; Logine NEGM; Melissa EDWARDS; Vanessa BIANCHI; Lucie STENGS; Jiil CHUNG; Abeer AL-BATTASHI; Agnes RESCHKE; Alex LION; Alia AHMAD; Alvaro LASSALETTA; Alyssa T REDDY; Amir F AL-DARRAJI; Amish C SHAH; Van Damme AN; Anne BENDEL; Aqeela RASHID; Ashley S MARGOL; Bethany L KELLY; Bojana PENCHEVA; Brandie HEALD; Brianna LEMIEUX-ANGLIN; Bruce CROOKS; Carl KOSCHMANN; Catherine GILPIN; Christopher C PORTER; David GASS; David SAMUEL; David S ZIEGLER; Deborah T BLUMENTHAL; Dennis John KUO; Dima HAMIDEH; Donald BASEL; Dong-Anh KHUONG-QUANG; Duncan STEARNS; Enrico OPOCHER; Fernando CARCELLER; Hagit Baris FELDMAN; Helen TOLEDANO; Ira WINER; Isabelle SCHEERS; Ivana FEDORAKOVA; Jack M SU; Jaime VENGOECHEA; Jaroslav ŠTĚRBA; Jeffrey KNIPSTEIN; Jordan R HANSFORD; Julieta Rita GONZALES-SANTOS; Kanika BHATIA; Kevin J BIELAMOWICZ; Khurram MINHAS; Kim E NICHOLS; Kristina A COLE; Lynette PENNEY; Magnus Aasved HJORT; Magnus SABEL; Maria Joao GIL-DA-COSTA; Matthew J MURRAY; Matthew MILLER; Maude L BLUNDELL; Maura MASSIMINO; Maysa AL-HUSSAINI; Mazin F AL-JADIRY; Melanie A COMITO; Michael OSBORN; Michael P LINK; Michal ZAPOTOCKY; Mithra GHALIBAFIAN; Najma SHAHEEN; Naureen MUSHTAQ; Nicolas WAESPE; Nobuko HIJIYA; Noemi FUENTES-BOLANOS; Olfat AHMAD; Omar CHAMDINE; Paromita ROY; Pavel N PICHURIN; Per NYMAN; Rachel PEARLMAN; Rebecca C AUER; Reghu K SUKUMARAN; Rejin KEBUDI; Rina DVIR; Robert RAPHAEL; Ronit ELHASID; Rose B MCGEE; Rose CHAMI; Ryan NOSS; Ryuma TANAKA; Salmo RASKIN; Santanu SEN; Scott LINDHORST; Sebastien PERREAULT; Shani CASPI; Shazia RIAZ; Shlomi CONSTANTINI; Sophie ALBERT; Stanley CHALEFF; Stefan BIELACK; Stefano CHIARAVALLI; Stuart Louis CRAMER; Sumita ROY; Suzanne CAHN; Suzanne PENNA; Syed Ahmer HAMID; Tariq GHAFOOR; Uzma IMAM; Valerie LAROUCHE; Vanan Magimairajan ISSAI; William D FOULKES; Yi Yen LEE; Paul C NATHAN; Yosef E MARUVKA; Mary-Louise C GREER; Carol DURNO; Adam SHLIEN; Birgit ERTL-WAGNER; Anita VILLANI; David MALKIN; Cynthia HAWKINS; Eric BOUFFET; Anirban DAS a Uri TABORI. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. Lancet Oncology. New York: Elsevier Science INC, 2024, roč. 25, č. 5, s. 668-682. ISSN 1470-2045. Dostupné z: https://doi.org/10.1016/S1470-2045(24)00026-3.
@article{2423202, author = {Ercan, Ayse Bahar and Aronson, Melyssa and Fernandez, Nicholas R and Chang, Yuan and Levine, Adrian and Liu, Zhihui Amy and Negm, Logine and Edwards, Melissa and Bianchi, Vanessa and Stengs, Lucie and Chung, Jiil and AlandBattashi, Abeer and Reschke, Agnes and Lion, Alex and Ahmad, Alia and Lassaletta, Alvaro and Reddy, Alyssa T and AlandDarraji, Amir F and Shah, Amish C and An, Van Damme and Bendel, Anne and Rashid, Aqeela and Margol, Ashley S and Kelly, Bethany L and Pencheva, Bojana and Heald, Brandie and LemieuxandAnglin, Brianna and Crooks, Bruce and Koschmann, Carl and Gilpin, Catherine and Porter, Christopher C and Gass, David and Samuel, David and Ziegler, David S and Blumenthal, Deborah T and Kuo, Dennis John and Hamideh, Dima and Basel, Donald and KhuongandQuang, DongandAnh and Stearns, Duncan and Opocher, Enrico and Carceller, Fernando and Feldman, Hagit Baris and Toledano, Helen and Winer, Ira and Scheers, Isabelle and Fedorakova, Ivana and Su, Jack M and Vengoechea, Jaime and Štěrba, Jaroslav and Knipstein, Jeffrey and Hansford, Jordan R and GonzalesandSantos, Julieta Rita and Bhatia, Kanika and Bielamowicz, Kevin J and Minhas, Khurram and Nichols, Kim E and Cole, Kristina A and Penney, Lynette and Hjort, Magnus Aasved and Sabel, Magnus and GilanddaandCosta, Maria Joao and Murray, Matthew J and Miller, Matthew and Blundell, Maude L and Massimino, Maura and AlandHussaini, Maysa and AlandJadiry, Mazin F and Comito, Melanie A and Osborn, Michael and Link, Michael P and Zapotocky, Michal and Ghalibafian, Mithra and Shaheen, Najma and Mushtaq, Naureen and Waespe, Nicolas and Hijiya, Nobuko and FuentesandBolanos, Noemi and Ahmad, Olfat and Chamdine, Omar and Roy, Paromita and Pichurin, Pavel N and Nyman, Per and Pearlman, Rachel and Auer, Rebecca C and Sukumaran, Reghu K and Kebudi, Rejin and Dvir, Rina and Raphael, Robert and Elhasid, Ronit and McGee, Rose B and Chami, Rose and Noss, Ryan and Tanaka, Ryuma and Raskin, Salmo and Sen, Santanu and Lindhorst, Scott and Perreault, Sebastien and Caspi, Shani and Riaz, Shazia and Constantini, Shlomi and Albert, Sophie and Chaleff, Stanley and Bielack, Stefan and Chiaravalli, Stefano and Cramer, Stuart Louis and Roy, Sumita and Cahn, Suzanne and Penna, Suzanne and Hamid, Syed Ahmer and Ghafoor, Tariq and Imam, Uzma and Larouche, Valerie and Issai, Vanan Magimairajan and Foulkes, William D and Lee, Yi Yen and Nathan, Paul C and Maruvka, Yosef E and Greer, MaryandLouise C and Durno, Carol and Shlien, Adam and ErtlandWagner, Birgit and Villani, Anita and Malkin, David and Hawkins, Cynthia and Bouffet, Eric and Das, Anirban and Tabori, Uri}, article_location = {New York}, article_number = {5}, doi = {https://doi.org/10.1016/S1470-2045(24)00026-3}, keywords = {constitutional mismatch-repair deficiency syndrome}, language = {eng}, issn = {1470-2045}, journal = {Lancet Oncology}, title = {Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study}, url = {https://www.sciencedirect.com/science/article/pii/S1470204524000263?via%3Dihub}, volume = {25}, year = {2024} }
TY - JOUR ID - 2423202 AU - Ercan, Ayse Bahar - Aronson, Melyssa - Fernandez, Nicholas R - Chang, Yuan - Levine, Adrian - Liu, Zhihui Amy - Negm, Logine - Edwards, Melissa - Bianchi, Vanessa - Stengs, Lucie - Chung, Jiil - Al-Battashi, Abeer - Reschke, Agnes - Lion, Alex - Ahmad, Alia - Lassaletta, Alvaro - Reddy, Alyssa T - Al-Darraji, Amir F - Shah, Amish C - An, Van Damme - Bendel, Anne - Rashid, Aqeela - Margol, Ashley S - Kelly, Bethany L - Pencheva, Bojana - Heald, Brandie - Lemieux-Anglin, Brianna - Crooks, Bruce - Koschmann, Carl - Gilpin, Catherine - Porter, Christopher C - Gass, David - Samuel, David - Ziegler, David S - Blumenthal, Deborah T - Kuo, Dennis John - Hamideh, Dima - Basel, Donald - Khuong-Quang, Dong-Anh - Stearns, Duncan - Opocher, Enrico - Carceller, Fernando - Feldman, Hagit Baris - Toledano, Helen - Winer, Ira - Scheers, Isabelle - Fedorakova, Ivana - Su, Jack M - Vengoechea, Jaime - Štěrba, Jaroslav - Knipstein, Jeffrey - Hansford, Jordan R - Gonzales-Santos, Julieta Rita - Bhatia, Kanika - Bielamowicz, Kevin J - Minhas, Khurram - Nichols, Kim E - Cole, Kristina A - Penney, Lynette - Hjort, Magnus Aasved - Sabel, Magnus - Gil-da-Costa, Maria Joao - Murray, Matthew J - Miller, Matthew - Blundell, Maude L - Massimino, Maura - Al-Hussaini, Maysa - Al-Jadiry, Mazin F - Comito, Melanie A - Osborn, Michael - Link, Michael P - Zapotocky, Michal - Ghalibafian, Mithra - Shaheen, Najma - Mushtaq, Naureen - Waespe, Nicolas - Hijiya, Nobuko - Fuentes-Bolanos, Noemi - Ahmad, Olfat - Chamdine, Omar - Roy, Paromita - Pichurin, Pavel N - Nyman, Per - Pearlman, Rachel - Auer, Rebecca C - Sukumaran, Reghu K - Kebudi, Rejin - Dvir, Rina - Raphael, Robert - Elhasid, Ronit - McGee, Rose B - Chami, Rose - Noss, Ryan - Tanaka, Ryuma - Raskin, Salmo - Sen, Santanu - Lindhorst, Scott - Perreault, Sebastien - Caspi, Shani - Riaz, Shazia - Constantini, Shlomi - Albert, Sophie - Chaleff, Stanley - Bielack, Stefan - Chiaravalli, Stefano - Cramer, Stuart Louis - Roy, Sumita - Cahn, Suzanne - Penna, Suzanne - Hamid, Syed Ahmer - Ghafoor, Tariq - Imam, Uzma - Larouche, Valerie - Issai, Vanan Magimairajan - Foulkes, William D - Lee, Yi Yen - Nathan, Paul C - Maruvka, Yosef E - Greer, Mary-Louise C - Durno, Carol - Shlien, Adam - Ertl-Wagner, Birgit - Villani, Anita - Malkin, David - Hawkins, Cynthia - Bouffet, Eric - Das, Anirban - Tabori, Uri PY - 2024 TI - Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study JF - Lancet Oncology VL - 25 IS - 5 SP - 668-682 EP - 668-682 PB - Elsevier Science INC SN - 14702045 KW - constitutional mismatch-repair deficiency syndrome UR - https://www.sciencedirect.com/science/article/pii/S1470204524000263?via%3Dihub N2 - Background Constitutional 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. ER -
ERCAN, Ayse Bahar; Melyssa ARONSON; Nicholas R FERNANDEZ; Yuan CHANG; Adrian LEVINE; Zhihui Amy LIU; Logine NEGM; Melissa EDWARDS; Vanessa BIANCHI; Lucie STENGS; Jiil CHUNG; Abeer AL-BATTASHI; Agnes RESCHKE; Alex LION; Alia AHMAD; Alvaro LASSALETTA; Alyssa T REDDY; Amir F AL-DARRAJI; Amish C SHAH; Van Damme AN; Anne BENDEL; Aqeela RASHID; Ashley S MARGOL; Bethany L KELLY; Bojana PENCHEVA; Brandie HEALD; Brianna LEMIEUX-ANGLIN; Bruce CROOKS; Carl KOSCHMANN; Catherine GILPIN; Christopher C PORTER; David GASS; David SAMUEL; David S ZIEGLER; Deborah T BLUMENTHAL; Dennis John KUO; Dima HAMIDEH; Donald BASEL; Dong-Anh KHUONG-QUANG; Duncan STEARNS; Enrico OPOCHER; Fernando CARCELLER; Hagit Baris FELDMAN; Helen TOLEDANO; Ira WINER; Isabelle SCHEERS; Ivana FEDORAKOVA; Jack M SU; Jaime VENGOECHEA; Jaroslav ŠTĚRBA; Jeffrey KNIPSTEIN; Jordan R HANSFORD; Julieta Rita GONZALES-SANTOS; Kanika BHATIA; Kevin J BIELAMOWICZ; Khurram MINHAS; Kim E NICHOLS; Kristina A COLE; Lynette PENNEY; Magnus Aasved HJORT; Magnus SABEL; Maria Joao GIL-DA-COSTA; Matthew J MURRAY; Matthew MILLER; Maude L BLUNDELL; Maura MASSIMINO; Maysa AL-HUSSAINI; Mazin F AL-JADIRY; Melanie A COMITO; Michael OSBORN; Michael P LINK; Michal ZAPOTOCKY; Mithra GHALIBAFIAN; Najma SHAHEEN; Naureen MUSHTAQ; Nicolas WAESPE; Nobuko HIJIYA; Noemi FUENTES-BOLANOS; Olfat AHMAD; Omar CHAMDINE; Paromita ROY; Pavel N PICHURIN; Per NYMAN; Rachel PEARLMAN; Rebecca C AUER; Reghu K SUKUMARAN; Rejin KEBUDI; Rina DVIR; Robert RAPHAEL; Ronit ELHASID; Rose B MCGEE; Rose CHAMI; Ryan NOSS; Ryuma TANAKA; Salmo RASKIN; Santanu SEN; Scott LINDHORST; Sebastien PERREAULT; Shani CASPI; Shazia RIAZ; Shlomi CONSTANTINI; Sophie ALBERT; Stanley CHALEFF; Stefan BIELACK; Stefano CHIARAVALLI; Stuart Louis CRAMER; Sumita ROY; Suzanne CAHN; Suzanne PENNA; Syed Ahmer HAMID; Tariq GHAFOOR; Uzma IMAM; Valerie LAROUCHE; Vanan Magimairajan ISSAI; William D FOULKES; Yi Yen LEE; Paul C NATHAN; Yosef E MARUVKA; Mary-Louise C GREER; Carol DURNO; Adam SHLIEN; Birgit ERTL-WAGNER; Anita VILLANI; David MALKIN; Cynthia HAWKINS; Eric BOUFFET; Anirban DAS a Uri TABORI. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. \textit{Lancet Oncology}. New York: Elsevier Science INC, 2024, roč.~25, č.~5, s.~668-682. ISSN~1470-2045. Dostupné z: https://doi.org/10.1016/S1470-2045(24)00026-3.