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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Nature Portfolio 2024-05-01
Цуврал:	npj Precision Oncology
Онлайн хандалт:	https://doi.org/10.1038/s41698-024-00603-z
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!