Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

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Fältnamn	Indikatorer	Metadata
000		10998naa a2202209 4500
001		oai:gup.ub.gu.se/338586
003		SwePub
008		240719s2024 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/3385862 URI
024	7	a https://doi.org/10.1016/S1470-2045(24)00026-32 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Ercan, Ayse Bahar4 aut
245	1 0	a Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
264	1	c 2024
520		a 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.In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries. Clinical data were extracted from the IRRDC database, medical records, and physician-completed case record forms. The primary objective was to describe the clinical features, cancer spectrum, and biology of the condition. Secondary objectives included estimations of cancer incidence and of the impact of the specific mismatch-repair gene and genotype on cancer onset and survival, including after cancer surveillance and immunotherapy interventions.We analysed data from 201 patients (103 males, 98 females) enrolled between June 5, 2007 and Sept 9, 2022. Median age at diagnosis of CMMRD or a related cancer was 8·9 years (IQR 5·9-12·6), and median follow-up from diagnosis was 7·2 years (3·6-14·8). Endogamy among minorities and closed communities contributed to high homozygosity within countries with low consanguinity. Frequent dermatological manifestations (117 [93%] of 126 patients with complete data) led to a clinical overlap with neurofibromatosis type 1 (35 [28%] of 126). 339 cancers were reported in 194 (97%) of 201 patients. The cumulative cancer incidence by age 18 years was 90% (95% CI 80-99). Median time between cancer diagnoses for patients with more than one cancer was 1·9 years (IQR 0·8-3·9). Neoplasms developed in 15 organs and included early-onset adult cancers. CNS tumours were the most frequent (173 [51%] cancers), followed by gastrointestinal (75 [22%]), haematological (61 [18%]), and other cancer types (30 [9%]). Patients with CNS tumours had the poorest overall survival rates (39% [95% CI 30-52] at 10 years from diagnosis; log-rank p<0·0001 across four cancer types), followed by those with haematological cancers (67% [55-82]), gastrointestinal cancers (89% [81-97]), and other solid tumours (96% [88-100]). All cancers showed high mutation and microsatellite indel burdens, and pathognomonic mutational signatures. MLH1 or MSH2 variants caused earlier cancer onset than PMS2 or MSH6 variants, and inferior survival (overall survival at age 15 years 63% [95% CI 55-73] for PMS2, 49% [35-68] for MSH6, 19% [6-66] for MLH1, and 0% for MSH2; p<0·0001). Frameshift or truncating variants within the same gene caused earlier cancers and inferior outcomes compared with missense variants (p<0·0001). The greater deleterious effects of MLH1 and MSH2 variants as compared with PMS2 and MSH6 variants persisted despite overall improvements in survival after surveillance or immune checkpoint inhibitor interventions.The very high cancer burden and unique genomic landscape of CMMRD highlight the benefit of comprehensive assays in timely diagnosis and precision approaches toward surveillance and immunotherapy. These data will guide the clinical management of children and patients who survive into adulthood with CMMRD.The Canadian Institutes for Health Research, Stand Up to Cancer, Children's Oncology Group National Cancer Institute Community Oncology Research Program, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Research, BioCanRx, Harry and Agnieszka Hall, Meagan's Walk, BRAINchild Canada, The LivWise Foundation, St Baldrick Foundation, Hold'em for Life, and Garron Family Cancer Center.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
653		a Humans
653		a Male
653		a Female
653		a Child
653		a Child
653		a Preschool
653		a Neoplastic Syndromes
653		a Hereditary
653		a genetics
653		a therapy
653		a Cross-Sectional Studies
653		a Adolescent
653		a Brain Neoplasms
653		a genetics
653		a therapy
653		a mortality
653		a pathology
653		a epidemiology
653		a DNA Mismatch Repair
653		a Longitudinal Studies
653		a Colorectal Neoplasms
653		a genetics
653		a pathology
653		a mortality
653		a Incidence
653		a MutS Homolog 2 Protein
653		a genetics
653		a MutL Protein Homolog 1
653		a genetics
653		a Adult
653		a Young Adult
653		a Mutation
653		a DNA-Binding Proteins
700	1	a Aronson, Melyssa4 aut
700	1	a Fernandez, Nicholas R4 aut
700	1	a Chang, Yuan4 aut
700	1	a Levine, Adrian4 aut
700	1	a Liu, Zhihui Amy4 aut
700	1	a Negm, Logine4 aut
700	1	a Edwards, Melissa4 aut
700	1	a Bianchi, Vanessa4 aut
700	1	a Stengs, Lucie4 aut
700	1	a Chung, Jiil4 aut
700	1	a Al-Battashi, Abeer4 aut
700	1	a Reschke, Agnes4 aut
700	1	a Lion, Alex4 aut
700	1	a Ahmad, Alia4 aut
700	1	a Lassaletta, Alvaro4 aut
700	1	a Reddy, Alyssa T4 aut
700	1	a Al-Darraji, Amir F4 aut
700	1	a Shah, Amish C4 aut
700	1	a Van Damme, An4 aut
700	1	a Bendel, Anne4 aut
700	1	a Rashid, Aqeela4 aut
700	1	a Margol, Ashley S4 aut
700	1	a Kelly, Bethany L4 aut
700	1	a Pencheva, Bojana4 aut
700	1	a Heald, Brandie4 aut
700	1	a Lemieux-Anglin, Brianna4 aut
700	1	a Crooks, Bruce4 aut
700	1	a Koschmann, Carl4 aut
700	1	a Gilpin, Catherine4 aut
700	1	a Porter, Christopher C4 aut
700	1	a Gass, David4 aut
700	1	a Samuel, David4 aut
700	1	a Ziegler, David S4 aut
700	1	a Blumenthal, Deborah T4 aut
700	1	a Kuo, Dennis John4 aut
700	1	a Hamideh, Dima4 aut
700	1	a Basel, Donald4 aut
700	1	a Khuong-Quang, Dong-Anh4 aut
700	1	a Stearns, Duncan4 aut
700	1	a Opocher, Enrico4 aut
700	1	a Carceller, Fernando4 aut
700	1	a Baris Feldman, Hagit4 aut
700	1	a Toledano, Helen4 aut
700	1	a Winer, Ira4 aut
700	1	a Scheers, Isabelle4 aut
700	1	a Fedorakova, Ivana4 aut
700	1	a Su, Jack M4 aut
700	1	a Vengoechea, Jaime4 aut
700	1	a Sterba, Jaroslav4 aut
700	1	a Knipstein, Jeffrey4 aut
700	1	a Hansford, Jordan R4 aut
700	1	a Gonzales-Santos, Julieta Rita4 aut
700	1	a Bhatia, Kanika4 aut
700	1	a Bielamowicz, Kevin J4 aut
700	1	a Minhas, Khurram4 aut
700	1	a Nichols, Kim E4 aut
700	1	a Cole, Kristina A4 aut
700	1	a Penney, Lynette4 aut
700	1	a Hjort, Magnus Aasved4 aut
700	1	a Sabel, Magnus,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsabma
700	1	a Gil-da-Costa, Maria Joao4 aut
700	1	a Murray, Matthew J4 aut
700	1	a Miller, Matthew4 aut
700	1	a Blundell, Maude L4 aut
700	1	a Massimino, Maura4 aut
700	1	a Al-Hussaini, Maysa4 aut
700	1	a Al-Jadiry, Mazin F4 aut
700	1	a Comito, Melanie A4 aut
700	1	a Osborn, Michael4 aut
700	1	a Link, Michael P4 aut
700	1	a Zapotocky, Michal4 aut
700	1	a Ghalibafian, Mithra4 aut
700	1	a Shaheen, Najma4 aut
700	1	a Mushtaq, Naureen4 aut
700	1	a Waespe, Nicolas4 aut
700	1	a Hijiya, Nobuko4 aut
700	1	a Fuentes-Bolanos, Noemi4 aut
700	1	a Ahmad, Olfat4 aut
700	1	a Chamdine, Omar4 aut
700	1	a Roy, Paromita4 aut
700	1	a Pichurin, Pavel N4 aut
700	1	a Nyman, Per4 aut
700	1	a Pearlman, Rachel4 aut
700	1	a Auer, Rebecca C4 aut
700	1	a Sukumaran, Reghu K4 aut
700	1	a Kebudi, Rejin4 aut
700	1	a Dvir, Rina4 aut
700	1	a Raphael, Robert4 aut
700	1	a Elhasid, Ronit4 aut
700	1	a McGee, Rose B4 aut
700	1	a Chami, Rose4 aut
700	1	a Noss, Ryan4 aut
700	1	a Tanaka, Ryuma4 aut
700	1	a Raskin, Salmo4 aut
700	1	a Sen, Santanu4 aut
700	1	a Lindhorst, Scott4 aut
700	1	a Perreault, Sebastien4 aut
700	1	a Caspi, Shani4 aut
700	1	a Riaz, Shazia4 aut
700	1	a Constantini, Shlomi4 aut
700	1	a Albert, Sophie4 aut
700	1	a Chaleff, Stanley4 aut
700	1	a Bielack, Stefan4 aut
700	1	a Chiaravalli, Stefano4 aut
700	1	a Cramer, Stuart Louis4 aut
700	1	a Roy, Sumita4 aut
700	1	a Cahn, Suzanne4 aut
700	1	a Penna, Suzanne4 aut
700	1	a Hamid, Syed Ahmer4 aut
700	1	a Ghafoor, Tariq4 aut
700	1	a Imam, Uzma4 aut
700	1	a Larouche, Valerie4 aut
700	1	a Magimairajan Issai, Vanan4 aut
700	1	a Foulkes, William D4 aut
700	1	a Lee, Yi Yen4 aut
700	1	a Nathan, Paul C4 aut
700	1	a Maruvka, Yosef E4 aut
700	1	a Greer, Mary-Louise C4 aut
700	1	a Durno, Carol4 aut
700	1	a Shlien, Adam4 aut
700	1	a Ertl-Wagner, Birgit4 aut
700	1	a Villani, Anita4 aut
700	1	a Malkin, David4 aut
700	1	a Hawkins, Cynthia4 aut
700	1	a Bouffet, Eric4 aut
700	1	a Das, Anirban4 aut
700	1	a Tabori, Uri4 aut
710	2	a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
773	0	t The Lancet Oncologyg 25:5, s. 668-682q 25:5<668-682x 1470-2045
856	4 8	u https://gup.ub.gu.se/publication/338586
856	4 8	u https://doi.org/10.1016/S1470-2045(24)00026-3

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Av författaren/redakt...: Ercan, Ayse Baha ...; Aronson, Melyssa; Fernandez, Nicho ...; Chang, Yuan; Levine, Adrian; Liu, Zhihui Amy; visa fler...; Negm, Logine; Edwards, Melissa; Bianchi, Vanessa; Stengs, Lucie; Chung, Jiil; Al-Battashi, Abe ...; Reschke, Agnes; Lion, Alex; Ahmad, Alia; Lassaletta, Alva ...; Reddy, Alyssa T; Al-Darraji, Amir ...; Shah, Amish C; Van Damme, An; Bendel, Anne; Rashid, Aqeela; Margol, Ashley S; Kelly, Bethany L; Pencheva, Bojana; Heald, Brandie; Lemieux-Anglin, ...; Crooks, Bruce; Koschmann, Carl; Gilpin, Catherin ...; Porter, Christop ...; Gass, David; Samuel, David; Ziegler, David S; Blumenthal, Debo ...; Kuo, Dennis John; Hamideh, Dima; Basel, Donald; Khuong-Quang, Do ...; Stearns, Duncan; Opocher, Enrico; Carceller, Ferna ...; Baris Feldman, H ...; Toledano, Helen; Winer, Ira; Scheers, Isabell ...; Fedorakova, Ivan ...; Su, Jack M; Vengoechea, Jaim ...; Sterba, Jaroslav; Knipstein, Jeffr ...; Hansford, Jordan ...; Gonzales-Santos, ...; Bhatia, Kanika; Bielamowicz, Kev ...; Minhas, Khurram; Nichols, Kim E; Cole, Kristina A; Penney, Lynette; Hjort, Magnus Aa ...; Sabel, Magnus, 1 ...; Gil-da-Costa, Ma ...; Murray, Matthew ...; Miller, Matthew; Blundell, Maude ...; Massimino, Maura; Al-Hussaini, May ...; Al-Jadiry, Mazin ...; Comito, Melanie ...; Osborn, Michael; Link, Michael P; Zapotocky, Micha ...; Ghalibafian, Mit ...; Shaheen, Najma; Mushtaq, Naureen; Waespe, Nicolas; Hijiya, Nobuko; Fuentes-Bolanos, ...; Ahmad, Olfat; Chamdine, Omar; Roy, Paromita; Pichurin, Pavel ...; Nyman, Per; Pearlman, Rachel; Auer, Rebecca C; Sukumaran, Reghu ...; Kebudi, Rejin; Dvir, Rina; Raphael, Robert; Elhasid, Ronit; McGee, Rose B; Chami, Rose; Noss, Ryan; Tanaka, Ryuma; Raskin, Salmo; Sen, Santanu; Lindhorst, Scott; Perreault, Sebas ...; Caspi, Shani; Riaz, Shazia; Constantini, Shl ...; Albert, Sophie; Chaleff, Stanley; Bielack, Stefan; Chiaravalli, Ste ...; Cramer, Stuart L ...; Roy, Sumita; Cahn, Suzanne; Penna, Suzanne; Hamid, Syed Ahme ...; Ghafoor, Tariq; Imam, Uzma; Larouche, Valeri ...; Magimairajan Iss ...; Foulkes, William ...; Lee, Yi Yen; Nathan, Paul C; Maruvka, Yosef E; Greer, Mary-Loui ...; Durno, Carol; Shlien, Adam; Ertl-Wagner, Bir ...; Villani, Anita; Malkin, David; Hawkins, Cynthia; Bouffet, Eric; Das, Anirban; Tabori, Uri; visa färre...

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