Individual #00016587

Reference -
Gender F
Geographic origin Messinia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, OVCA
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     
0000008735 50y - - Ductal Invasive II N/A Negative Negative Positive - - - Despoina Kalfakakou
0000008736 50y - - Ductal In Situ III N/A Positive Positive Negative - - - Despoina Kalfakakou

Breast-ovarian cancer, familial, susceptibility to, 3 (BROVCA3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000008737 50y - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000008738 54y - - III N/A - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000284 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ./. g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
4 Parent #2 ./. g.55593624A>T - KIT_000017 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1690A>T, NM_001093772.1:c.1678A>T r.(?) p.(Asn564Tyr), p.(Asn560Tyr)
4 Parent #2 ./. g.55604678C>T - KIT_000014 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2886C>T, NM_001093772.1:c.2874C>T r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55266418G>A - EGFR_000022 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2710G>A r.(?) p.(Val904Ile)
9 Parent #2 ./. g.863679C>G - chr9_000011 rs74620704 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108224555A>G - ATM_000077 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8734A>G r.(?) p.(Arg2912Gly)
14 Parent #2 ./. g.95574135C>T - DICER1_000016 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2651-37G>A, NM_001271282.1:c.2651-37G>A, NM_030621.3:c.2651-37G>A, NM_177438.2:c.2651-37G>A r.(=) p.(=)
15 Parent #2 ./. g.91352464G>A - BLM_000030 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3849G>A r.(=) p.(=)
16 Parent #2 ./. g.2111846C>T - TSC2_000044 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1120-26C>T, NM_001077183.1:c.1120-26C>T, NM_001114382.1:c.1120-26C>T r.(=) p.(=)
17 Parent #2 ./. g.56787218A>G - RAD51C_000008 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.706-2A>G r.spl? p.?
Legend