# Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2024”

PMC · DOI: 10.1186/s13053-026-00330-5 · 2026-03-05

## Full-text entities

- **Genes:** IGKV1-27 (immunoglobulin kappa variable 1-27) [NCBI Gene 28935] {aka A20, IGKV127}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, PARG (poly(ADP-ribose) glycohydrolase) [NCBI Gene 8505] {aka PARG99}, NEIL3 (nei like DNA glycosylase 3) [NCBI Gene 55247] {aka FGP2, FPG2, NEI3, ZGRF3, hFPG2, hNEI3}, CHEK2 (checkpoint kinase 2) [NCBI Gene 11200] {aka CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53}, MRE11 (MRE11 double strand break repair nuclease) [NCBI Gene 4361] {aka ATLD, HNGS1, MRE11A, MRE11B}, RAD51D (RAD51 paralog D) [NCBI Gene 5892] {aka BROVCA4, R51H3, RAD51L3, TRAD}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}, GSTT1 (glutathione S-transferase theta 1) [NCBI Gene 2952], DIO2 (iodothyronine deiodinase 2) [NCBI Gene 1734] {aka 5DII, D2, DIOII, SELENOY, SelY, TXDI2}, BLM (BLM RecQ like helicase) [NCBI Gene 641] {aka BS, MGRISCE1, RECQ2, RECQL2, RECQL3}, ATM (ATM serine/threonine kinase) [NCBI Gene 472] {aka AT1, ATA, ATC, ATD, ATDC, ATE}, STK11 (serine/threonine kinase 11) [NCBI Gene 6794] {aka LKB1, PJS, hLKB1}, PGR (progesterone receptor) [NCBI Gene 5241] {aka NR3C3, PR}, POLD3 (DNA polymerase delta 3, accessory subunit) [NCBI Gene 10714] {aka IMD122, P66, P68, PPP1R128}, PLAG1 (PLAG1 zinc finger) [NCBI Gene 5324] {aka PSA, SGPA, SRS4, ZNF912}, LIG3 (DNA ligase 3) [NCBI Gene 3980] {aka LIG2, LIG3alpha, MTDPS20}, ABCG2 (ATP binding cassette subfamily G member 2 (JR blood group)) [NCBI Gene 9429] {aka ABC15, ABCP, BCRP, BMDP, CD338, CDw338}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, LIG1 (DNA ligase 1) [NCBI Gene 3978] {aka IMD96, LIGI, hLig1}, MUTYH (mutY DNA glycosylase) [NCBI Gene 4595] {aka MYH}, PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728] {aka BROVCA5, FANCN, PNCA3}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, RAD51C (RAD51 paralog C) [NCBI Gene 5889] {aka BROVCA3, FANCO, R51H3, RAD51L2}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, RAD50 (RAD50 double strand break repair protein) [NCBI Gene 10111] {aka NBSLD, RAD502, hRad50}, POLD4 (DNA polymerase delta 4, accessory subunit) [NCBI Gene 57804] {aka POLDS, p12}, GSTM1 (glutathione S-transferase mu 1) [NCBI Gene 2944] {aka GST1, GSTM1-1, GSTM1a-1a, GSTM1b-1b, GTH4, GTM1}, GPX1 (glutathione peroxidase 1) [NCBI Gene 2876] {aka GPXD, GSHPX1}, ATP7B (ATPase copper transporting beta) [NCBI Gene 540] {aka PWD, WC1, WD, WND}, ABCB1 (ATP binding cassette subfamily B member 1) [NCBI Gene 5243] {aka ABC20, CD243, CLCS, ENPAT, GP170, MDR1}, MUC16 (mucin 16, cell surface associated) [NCBI Gene 94025] {aka CA125}, BRIP1 (BRCA1 interacting DNA helicase 1) [NCBI Gene 83990] {aka BACH1, FANCJ, OF}, VHL (von Hippel-Lindau tumor suppressor) [NCBI Gene 7428] {aka HRCA1, RCA1, VHL1, pVHL}, RFC3 (replication factor C subunit 3) [NCBI Gene 5983] {aka RFC38}, NEIL1 (nei like DNA glycosylase 1) [NCBI Gene 79661] {aka FPG1, NEI1, hFPG1}, RIPK1 (receptor interacting serine/threonine kinase 1) [NCBI Gene 8737] {aka AIEFL, IMD57, RIP, RIP-1, RIP1}, SELENOP (selenoprotein P) [NCBI Gene 6414] {aka SELP, SEPP, SEPP1, SeP}, GSTP1 (glutathione S-transferase pi 1) [NCBI Gene 2950] {aka DFN7, FAEES3, GST3, GSTP, GSTP1-1, HEL-S-22}, UNG (uracil DNA glycosylase) [NCBI Gene 7374] {aka DGU, HIGM4, HIGM5, UDG, UNG1, UNG15}, TGFB1 (transforming growth factor beta 1) [NCBI Gene 7040] {aka CAEND1, CED, DPD1, IBDIMDE, LAP, TGF-beta1}
- **Diseases:** adenomas (MESH:D000236), papillary and follicular cancer (MESH:D000077273), proliferative dysplasia (MESH:D009220), carcinogenesis (MESH:D063646), LS (MESH:D003123), lip cancer (MESH:D008048), Non-medullary thyroid cancer (MESH:C536914), Hereditary Cancer (MESH:D009386), Familial bone cancer (MESH:D001859), skin lesions (MESH:D012871), polyposis (MESH:D044483), mitochondrial dysfunction (MESH:D028361), inflammation (MESH:D007249), familial adenomatous colorectal polyposis (MESH:C563924), PC (MESH:D011471), Small intestinal cancer (MESH:D007414), Turcot syndrome (MESH:C536928), Gardner syndrome (MESH:D005736), juvenile polyposis syndrome (MESH:C537702), Thyroid anaplastic cancer (MESH:D065646), intestinal polyps (MESH:D007417), Cancer (MESH:D009369), adenocarcinoma (MESH:D000230), diabetes (MESH:D003920), carcinoid (MESH:D002276), Ovarian cancer (MESH:D010051), Peutz-Jeghers syndrome (MESH:D010580), TL (MESH:C536801), bladder, lung, kidney, liver, skin (MESH:D018856), TNBC (MESH:D064726), breast cancer (MESH:D001943), arsenic toxicity (MESH:D020261), Hamartomatous polyps (MESH:D011127), prostate (MESH:D011472), ovarian carcinogenesis (MESH:D010049), carcinogenic (MESH:D011230), Se deficiency (MESH:D007153), deaths (MESH:D003643), endometrial cancer (MESH:D016889), HBOC (MESH:D061325), PHTS (MESH:D006223), Thyroid cancer (MESH:D013964), impaired intellectual function (MESH:D008607), CRC (MESH:D015179), HP (MESH:C537262), adenomatous polyps (MESH:D018256), HPC (MESH:C537243), toxicity (MESH:D064420), Familial MM syndromes (MESH:D011125), cardiovascular disease (MESH:D002318)
- **Chemicals:** Fe (MESH:D007501), Li (MESH:D008094), V (MESH:D014639), DMSA (MESH:D004113), Ag (MESH:D012834), Sn (MESH:D014001), Copper (MESH:D003300), P (MESH:D010758), Br (MESH:D001966), Zinc (MESH:D015032), paraffin (MESH:D010232), Ni (MESH:D009532), paclitaxel (MESH:D017239), I (MESH:D007455), Cs (MESH:D002586), Co (MESH:D003035), Mg (MESH:D008274), Mn (MESH:D008345), Ca (MESH:D002118), Sr (MESH:D013324), Pb (MESH:D007854), Arsenic (MESH:D001151), Cd (MESH:D002104), Mo (MESH:D008982), Hg (MESH:D008628), cisplatin (MESH:D002945), AZV (-), Se (MESH:D012643), sodium selenite (MESH:D018038), Ti (MESH:D014025)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs225014, p.Asp1853Asn, 4035del, p.Val660Leu, 5266dup, p.Arg72Pro, rs1050450, p.Ser406Ala, rs7579, p.Ser894Ala

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Source: https://tomesphere.com/paper/PMC12961767