Individual #00014988

Reference -
Gender F
Geographic origin Mani
Geographic origin Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel ID 00014986
Panel size 6
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000010900 31y - - - - Despoina Kalfakakou
0000010901 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004527 DNA MLPA 0 BRCA1 1 Despoina Kalfakakou
0000005308 DNA SEQ 1 BRCA1, BRCA2 1 Despoina Kalfakakou



Variants

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

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
13 Parent #2 +/+ g.32972398_32972399insT - BRCA2_000232 rs886040850 - Germline ? - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9748_9749insT r.(?) p.(Ser3250Phefs*5)
17 Maternal (confirmed) +/+ g.41189422_41200474del [Apostolou et al. 2017],[Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000090 - - Germline yes BRCA1 exons 23-24 deletion Minor Asia and Aegean Islands Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5407-754_*8273del, NM_007297.3:c.5265+664_*8273del, NM_007298.3:c.2094+664_*8273del, NM_007299.3:c.2021-754_*8379del, NM_007300.3:c.5469+664_*8273del r.0?, r.? p.0?, p.?
Legend