No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Mev Dominguez-ValentinJohn-Paul PlazzerJulian R SampsonChristoph EngelStefan AretzMark A JenkinsLone SundeInge BernsteinGabriel Capellá MunarFrancesc BalaguerFinlay MacraeIngrid M WinshipHuw ThomasDafydd Gareth EvansJohn BurnMarc GreenblattWouter H de Vos Tot Nederveen CappelRolf H SijmonsMaartje NielsenLucio BertarioBernardo BonanniMaria Grazia TibilettiGiulia Martina CavestroAnnika LindblomAdriana Della ValleFrancisco Lopez-KostnerKarin AlvarezNathan GluckLior KatzKarl HeinimannCarlos Alberto VaccaroSigve NakkenEivind HovigKate GreenFiona LallooJames HillHans F A VasenClaudia PerneReinhard BüttnerHeike GörgensElke Holinski-FederMonika MorakStefanie HolzapfelRobert HueneburgMagnus von Knebel DoeberitzMarkus LoefflerNils RahnerJürgen WeitzVerena Steinke-LangeWolff SchmiegelDeepak Ben VangalaEmma J CrosbieMarta PinedaMatilde NavarroJoan BrunetLeticia MoreiraAriadna SánchezMiquel Serra-BurrielMiriam MintsRevital KarivGuy RosnerTamara Alejandra PiñeroWalter Hernán PavicicPablo KalfayanSanne W Ten BroekeJukka-Pekka MecklinKirsi PylvänäinenLaura Renkonen-SinisaloAnna LepistöPäivi PeltomäkiJohn L HopperAung-Ko WinDaniel D BuchananNoralane M LindorSteven GallingerLoic Le MarchandPolly A NewcombJane C FigueiredoStephen N ThibodeauChristina TherkildsenThomas V O HansenLars LindbergEinar Andreas RødlandFlorencia NeffaPatricia EsperónDouglas TjandraGabriela MösleinToni T SeppäläPål MøllerPublished in: Journal of clinical medicine (2021)
Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.