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Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.

Genes See tests for all associated and related genes

    Summary: AKT serine/threonine kinase 1

  • Also known as: BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46, APC
    Summary: APC regulator of WNT signaling pathway

  • Also known as: AIK, ARK1, AURA, BTAK, PPP1R47, STK15, STK6, STK7, AURKA
    Summary: aurora kinase A

  • Also known as: AXIL, ODCRCS, AXIN2
    Summary: axin 2

  • Also known as: BCL2L4, BAX
    Summary: BCL2 associated X, apoptosis regulator

  • Also known as: B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1, BRAF
    Summary: B-Raf proto-oncogene, serine/threonine kinase

  • Also known as: BUB1A, BUB1L, MCPH30, hBUB1, BUB1
    Summary: BUB1 mitotic checkpoint serine/threonine kinase

  • Also known as: BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1, BUB1B
    Summary: BUB1 mitotic checkpoint serine/threonine kinase B

  • Also known as: BCL1, D11S287E, PRAD1, U21B31, CCND1
    Summary: cyclin D1

  • Also known as: CTNNB, EVR7, MRD19, NEDSDV, armadillo, CTNNB1
    Summary: catenin beta 1

  • Also known as: CRC18, CRCR1, HGPPS2, IGDCC1, MRMV1, NTN1R1, DCC
    Summary: DCC netrin 1 receptor

  • Also known as: ARHGAP7, HP, STARD12, p122-RhoGAP, DLC1
    Summary: DLC1 Rho GTPase activating protein

  • Also known as: KAT3B, MKHK2, RSTS2, p300, EP300
    Summary: E1A binding protein p300

  • Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
    Summary: fibroblast growth factor receptor 3

  • Also known as: BHD, DENND8B, FLCL, FLCN
    Summary: folliculin

  • Also known as: MCC1, MCC
    Summary: MCC regulator of WNT signaling pathway

  • Also known as: HNPCC7, MLH3
    Summary: mutL homolog 3

  • Also known as: ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS1, NS6, NRAS
    Summary: NRAS proto-oncogene, GTPase

  • Also known as: PDGRL, PRLTS, PDGFRL
    Summary: platelet derived growth factor receptor like

  • Also known as: CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha, PIK3CA
    Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

  • Also known as: MOM1, PLA2, PLA2B, PLA2L, PLA2S, PLAS1, sPLA2, PLA2G2A
    Summary: phospholipase A2 group IIA

  • Also known as: PTP-PEST, PTPG1, PTPN12
    Summary: protein tyrosine phosphatase non-receptor type 12

  • Also known as: CD148, DEP1, HPTP eta, HPTPeta, R-PTP-ETA, R-PTP-J, SCC1, THC10, PTPRJ
    Summary: protein tyrosine phosphatase receptor type J

  • Also known as: RDH54, RAD54B
    Summary: RAD54 homolog B

  • Also known as: ASV, SRC1, THC6, c-SRC, p60-Src, SRC
    Summary: SRC proto-oncogene, non-receptor tyrosine kinase

  • Also known as: CD282, TIL4, TLR2
    Summary: toll like receptor 2

  • Also known as: BCC7, BMFS5, LFS1, P53, TRP53, TP53
    Summary: tumor protein p53

Clinical features


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