No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

J Clin Med. 2021 Jun 28;10(13):2856. DOI: 10.3390/jcm10132856

Mev Dominguez-ValentinJohn-Paul PlazzerJulian R SampsonChristoph EngelStefan AretzMark A JenkinsLone SundeInge BernsteinGabriel CapellaFrancesc BalaguerFinlay MacraeIngrid M WinshipHuw ThomasDafydd Gareth Evans, John 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 A VaccaroSigve NakkenEivind HovigKate GreenFiona LallooJames HillHans F A VasenClaudia PerneReinhard BüttnerHeike GörgensElke Holinski-FederMonika MorakStefanie HolzapfelRobert HüneburgMagnus von Knebel DoeberitzMarkus LoefflerNils RahnerJürgen WeitzVerena Steinke-LangeWolff SchmiegelDeepak VangalaEmma J Crosbie, Marta 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 GallingerLoïc Le MarchandPolly A NewcombJane C FigueiredoStephen N ThibodeauChristina TherkildsenThomas V O HansenLars LindbergEinar Andreas RødlandFlorencia NeffaPatricia EsperonDouglas TjandraGabriela MösleinToni T SeppäläPål Møller

https://pubmed.ncbi.nlm.nih.gov/34203177/

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