Individual #00016697

Reference -
Gender F
Geographic origin Piraeus
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008900 48y - - Lobular Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000359 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
2 Parent #2 ./. g.47602347A>G - EPCAM_000009 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.426-26A>G r.(=) p.(=)
2 Parent #2 ./. g.47637365G>C - MSH2_000027 rs63750255 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.499G>C, NM_001258281.1:c.301G>C r.(?) p.(Asp167His), p.(Asp101His)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
12 Parent #2 ./. g.121431559G>A - HNF1A_000011 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.713+50G>A r.(=) p.(=)
13 Parent #2 ./. g.32968810T>C - BRCA2_000013 rs11571818 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 ./. g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
13 Parent #2 ./. g.49030482A>C - RB1_000021 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1957A>C r.(?) p.(Lys653Gln)
15 Parent #2 ./. g.91341457G>A - BLM_000024 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3248G>A r.(?) p.(Ser1083Asn)
16 Parent #2 ./. g.2138206C>A - TSC2_000078 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5161-22C>A, NM_001077183.1:c.4960-22C>A, NM_001114382.1:c.5092-22C>A r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
17 Parent #2 ./. g.59761132G>A - BRIP1_000025 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3275C>T r.(?) p.(Pro1092Leu)
17 Parent #2 ./. g.59924572G>A - BRIP1_000005 rs4988345 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
Legend