Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Abstract Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline mismatch repair (MMR) variants. LS predisposes to mainly gastrointestinal and genitourinary cancers in adulthood. CMMRD predisposes...

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Ngā kaituhi matua:	Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Nature Portfolio 2024-05-01
Rangatū:	npj Precision Oncology
Urunga tuihono:	https://doi.org/10.1038/s41698-024-00603-z
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

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