Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Sep 24, 2026

Uploaded by Theodore

Prospective Lynch syndrome database report evaluating mortality patterns in carriers of pathogenic mismatch repair (MMR) gene variants under surveillance for early cancer diagnosis and treatment. The study links age, genetic variant status, and gender to mortality risk using standardized cohort follow-up and clinical context. It summarizes how surveillance is associated with outcomes across relevant MMR genes, providing incidence and confidence-interval style measures and defining key abbreviations used for interpretation, including CRC, LS, and annual incidence rate.

LanguageEnglish

CategoryHealthcare

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Pages12

Reading Time30 min

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Articles

Mortality by age, gene and gender in Lynch syndrome carriers

Prospective Lynch syndrome database

Abbreviations and definitions

Articles Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database Mev Dominguez-Valentin,a,∗ Saskia Haupt,b,c Toni T. Seppälä,d,e,f Julian R. Sampson,g Lone Sunde,h,i Inge Bernstein,j,k Mark A. Jenkins,l Christoph Engel,m Stefan Aretz,n Maartje Nielsen,o Gabriel Capella,p Francesc Balaguer,q Dafydd Gareth Evans,r John Burn,s Elke Holinski-Feder,t,u Lucio Bertario,v Bernardo Bonanni,w Annika Lindblom,x Zohar Levi,y Finlay Macrae,z,co Ingrid Winship,z,co,aa John-Paul Plazzer,z,co Rolf Sijmons,ab Luigi Laghi,ac Adriana Della Valle,ad Karl Heinimann,ae Tadeusz Dębniak,af Robert Fruscio,ag Francisco Lopez-Koestner,ah,cp Karin Alvarez-Valenzuela,ah,cp Lior H. Katz,ai Ido Laish,ai Elez Vainer,aj Carlos Vaccaro,ak Dirce Maria Carraro,al Kevin Monahan,am Elizabeth Half,an Aine Stakelum,ao Des Winter,ao Rory Kennelly,ao Nathan Gluck,ap Harsh Sheth,aq Naim Abu-Freha,ar Marc Greenblatt,as Benedito Mauro Rossi,at Mabel Bohorquez,au Giulia Martina Cavestro,av Leonardo S. Lino-Silva,aw Karoline Horisberger,ax,cq Maria Grazia Tibiletti,ay Ivana do Nascimento,az Huw Thomas,ba Norma Teresa Rossi,bb Leandro Apolinário da Silva,bc,cr Attila Zaránd,bd Juan Ruiz-Bañobre,be,cs Vincent Heuveline,b,c Jukka-Pekka Mecklin,bf,ct Kirsi Pylvänäinen,bg Laura Renkonen-Sinisalo,e,f Anna Lepistö,e,f Päivi Peltomäki,bh Christina Therkildsen,bi Mia Gebauer Madsen,bj Stefan Kobbelgaard Burgdorf,bk John L. Hopper,bl Aung Ko Win,bl Robert W. Haile,bm Noralane Lindor,bn Steven Gallinger,bo Loïc Le Marchand,bp Polly A. Newcomb,bq Jane Figueiredo,bq Daniel D. Buchanan,br,bs,bt Stephen N. Thibodeau,bu Magnus von Knebel Doeberitz,bv,cu Markus Loefﬂer,m Nils Rahner,bw Evelin Schröck,bx,cv,cw,cx Verena Steinke-Lange,by,cy Wolff Schmiegel,bz Deepak Vangala,bz Claudia Perne,n Robert Hüneburg,ca Silke Redler,bw Reinhard Büttner,cb Jürgen Weitz,cc Marta Pineda,p Nuria Duenas,p Joan Brunet Vidal,p Leticia Moreira,q Ariadna Sánchez,q Eivind Hovig,a,cd Sigve Nakken,a,cd,ce Kate Green,r Fiona Lalloo,r James Hill,cf Emma Crosbie,cg,cz Miriam Mints,ch Yael Goldberg,ci Douglas Tjandra,z,co Sanne W. ten Broeke,ab Revital Kariv,ao Guy Rosner,ao Suresh H. Advani,cj Lidiya Thomas,cj Pankaj Shah,ck Mithun Shah,ck Florencia Neffa,ac Patricia Esperon,ac Walter Pavicic,cl Giovana Tardin Torrezan,ak Thiago Bassaneze,as Claudia Alejandra Martin,cm Gabriela Moslein,cn and Pål Mollera aDepartment of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway bEngineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientiﬁc Computing (IWR), Heidelberg University, Heidelberg, Germany cData Mining and Uncertainty Quantiﬁcation (DMQ), Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany dFaculty of Medicine and Health Technology, Tampere University and Tays Cancer Center, Tampere University Hospital, Finland eDepartment of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland fApplied Tumor Genomics, Research Program Unit, University of Helsinki, Helsinki, Finland gDivision of Cancer and Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK hDepartment of Clinical Genetics, Aalborg University Hospital, 9000, Aalborg, Denmark iDepartment of Biomedicine, Aarhus University, DK-8000, Aarhus, Denmark jDepartment of Surgical Gastroenterology, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark kDepartment of Clinical Medicine, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark lMelbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, 3010, Victoria, Australia mInstitute for Medical Informatics, Statistics and Epidemiology, Uni

FAQs

What study population is analyzed in the report?

The report analyzes carriers of pathogenic mismatch repair (MMR) gene variants included in the prospective Lynch syndrome database.

How does the report evaluate mortality?

Mortality is assessed in relation to age, genetic variant status, and gender during surveillance for early cancer diagnosis and treatment.

Which outcomes and terms are defined for interpreting results?

The document defines key abbreviations such as CRC, LS, MMR, annual incidence rate, and confidence intervals, along with the specific meaning of path_MMR.

Sep 24, 2026

Uploaded by Theodore