Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers
生殖系 MLH1 c.-42 C > T 是一种可能致病的变异，易导致低外显率/改良型林奇综合征表型，其特征是 MLH1 甲基化癌症。
期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-025-00519-y
Buchanan, Daniel D; Alvarez, Rocio; Mahmood, Khalid; Clendenning, Mark; Georgeson, Peter; Walker, Romy; Como, Julia; Preston, Susan G; Joseland, Sharelle; Mohammadsaeedi, Kimia; Aguirre, Francesca; Zhou, Lisa; Hazelett, Dennis J; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Macrae, Finlay A; Dwarte, Tanya M; Nixon, Dawn; Hitchins, Megan P; Joo, Jihoon E
