Individual #00003486

Ethnic origin Spanish/Swiss German
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer
Owner name Marcela Lopez-CEMAFE
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     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003809 DNA SEQ-NG GENDA AIP, ALK, APC*, ATM*, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A (p14ARF), CDKN2A (p16INK4a), CEBPA, CHEK2, CTNNA1, DICER1*, DIS3L2, EGFR, EPCAM*, FH*, FLCN, GATA2, GPC3*, GREM1*, HOXB13, HRAS, KIT, MAX*, MEN1*, MET*, MITF*, MLH1*, MSH2*, MSH3*, MSH6*, MUTYH, NBN, NF1*, NF2, NTHL1, PALB2, PDGFRA, PHOX2B*, PMS2*, POLD1*, POLE, POT1, PRKAR1A, PTCH1, PTEN*, RAD50, RAD51C, RAD51D, RB1*, RECQL4*, RET, RUNX1, SDHA*, SDHAF2, SDHB, SDHC*, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1*, TSC2, VHL, WRN*, WT1. 24-jan-2023 Multigenetic panel - 4 Marcela Lopez-CEMAFE



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
4 Unknown ?/? g.54261242G>T - PDGFRA_000013 rs1577705273 - Marcela Lopez-CEMAFE PDGFRA 3 NM_006206.6:c.197G>T p.(Ser66Ile) Hetero PALB2 r.? -
11 Unknown ?/? g.108343265C>T - ATM_000151 rs771781881 - Marcela Lopez-CEMAFE ATM 56 NM_000051.4:c.8312C>T (p.Thr2771Ile) Hetero PALB2 r.(8312c>u) -
13 Unknown ?/? g.48373419C>T - RB1_000009 - - Marcela Lopez-CEMAFE RB1 12 NM_000321.2:c.1142C>T p.(Thr381Ile) Hetero PALB2 r.? -
16 Unknown +/+ g.23634893A>T - PALB2_000001 rs118203997 - Marcela Lopez-CEMAFE PALB2 4 NM_024675.4:c.1653T>A p.(Tyr551*) Hetero no r.? -
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