Individual #00003103

Ethnic origin Argentinean - Italian
Reference -
Remarks -
Cuadro familiar Breast cancer, Ovarian cancer
Panel size 1
Diseases Breast cancer
Owner name Guillermo Alberto-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Owner     
0000003421 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME (78 genes) ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. 06-may-2024 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

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AscendingDNA change (genomic) (hg38)     

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2 Unknown ?/? g.47480764T>C - MSH2_000079 rs1667495338 - Guillermo Alberto-Instituto Fleming MSH2 15 NM_000251.2:c.2527T>C p.(Cys843Arg) Hetero no r.? -
22 Unknown +?/+? g.28724974T>A - CHEK2_000014 rs587782849 - Guillermo Alberto-Instituto Fleming CHEK2 4i NM_007194.4:c.592+3A>T p.? Hetero no r.? -
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