Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
| Authors |
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 |
|---|---|
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Lancet Oncology |
| MU Faculty or unit | |
| Citation | |
| web | https://www.sciencedirect.com/science/article/pii/S1470204524000263?via%3Dihub |
| Doi | http://dx.doi.org/10.1016/S1470-2045(24)00026-3 |
| Keywords | constitutional mismatch-repair deficiency syndrome |
| Description | 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. |