Individual #00003255

Ethnic origin Spanish/French
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer, Colon cancer
Owner name Nerina Anmuth-Sanatorio Parque
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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Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003575 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS 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. 07-nov-2023 Multigenetic panel - 2 Nerina Anmuth-Sanatorio Parque



Variants

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

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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dbSNP ID     

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RNA change     

Review status     
13 Unknown +/+ g.32340823_32340824del - BRCA2_000233 - - Nerina Anmuth-Sanatorio Parque BRCA2 11 NM_000059.3:c.6468_6469del p.(Gln2157Ilefs*18) Hetero N/A r.(?) -
16 Unknown ?/? g.89739539G>A - FANCA_000002 rs200215131 - Nerina Anmuth-Sanatorio Parque FANCA 11 NM_000135.4:c.3949C>T p.(Arg1317Trp) Hetero BRCA2 r.? -
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