Individual #00003102

Ethnic origin Spanish
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     
0000003420 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. 01-may-2024 Multigenetic panel - 1 Guillermo Alberto-Instituto Fleming



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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2 Unknown ?/? g.47799403G>C - MSH6_000063 rs1558661621 - Guillermo Alberto-Instituto Fleming MSH6 4 NM_000179.2:c.1420G>C p.(Val474Leu) Hetero no r.(?) -
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