遗传性非息肉病性结肠癌

Hereditary nonpolyposis colon cancer

ORPHA:443909疾病组

定义

一种癌症倾向，特征为可发展为大肠癌且不合并大肠息肉病，子宫内膜癌和各种其他癌症（例如卵巢，胃，胆道，小肠和尿道癌的恶性上皮肿瘤）。上述肿瘤在早期即可被诊断。

遗传性非息肉病性结直肠癌

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
ATM	ATM serine/threonine kinase	ORPHA:440437
BMPR1A	bone morphogenetic protein receptor type 1A	ORPHA:440437
BRCA2	BRCA2 DNA repair associated	ORPHA:440437
CHEK2	checkpoint kinase 2	ORPHA:440437
EPCAM	epithelial cell adhesion molecule	ORPHA:144
MLH1	mutL homolog 1	ORPHA:144
MSH2	mutS homolog 2	ORPHA:144
MSH6	mutS homolog 6	ORPHA:144
MUTYH	mutY DNA glycosylase	ORPHA:440437
NPAT	nuclear protein, coactivator of histone transcription	ORPHA:440437
PMS2	PMS1 homolog 2, mismatch repair system component	ORPHA:144
POLD1	DNA polymerase delta 1, catalytic subunit	ORPHA:440437
POLE	DNA polymerase epsilon, catalytic subunit	ORPHA:440437
RPS20	ribosomal protein S20	ORPHA:440437
SEMA4A	semaphorin 4A	ORPHA:440437

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