Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
Adela CastillejoEva Hernández-IllánMaría Rodriguez-SolerLucía Pérez-CarbonellCecilia EgoavilVictor M BarberáMaría-Isabel CastillejoCarla GuarinosEduardo Martínez-de-DueñasMaría-Jose JuanAna-Beatriz Sánchez-HerasZaida García-CasadoClara Ruiz-PonteAlejandro Brea-FernándezMiriam JuárezLuis BujandaJuan ClofentXavier LlorMontserrat AndreuAntoni CastellsAngel CarracedoCristina AlendaArtemio PayáRodrigo JoverJosé-Luis SotoPublished in: Journal of medical genetics (2015)
Our results suggest a negligible prevalence of MLH1 constitutional epimutations in unselected cases of CRC. Therefore, MLH1 constitutional epimutation analysis should be conducted only for patients who fulfil the rBG and who lack MLH1 expression with methylated MLH1.
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