Individual #00017005

Reference -
Gender F
Geographic origin Areopoli, Messinia
Geographic origin Kardamili, Messinia
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000009323 70y - - Lobular Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou
0000009324 74y - - Lobular In Situ II N/A Negative Negative Positive - - - 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     
0000009325 56y - - I Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000761 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.47643535A>G - MSH2_000009 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1043A>G, NM_001258281.1:c.845A>G r.(?) p.(Gln348Arg), p.(Gln282Arg)
3 Parent #2 ./. g.37091971T>C - MLH1_000067 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.2104-6T>C, NM_001167617.1:c.1810-6T>C, NM_001167618.1:c.1381-6T>C, NM_001167619.1:c.1381-6T>C, NM_001258271.1:c.1897-6T>C, NM_001258273.1:c.1381-6T>C, NM_001258274.1:c.1381-6T>C r.(=) p.(=)
8 Parent #2 ./. g.90976733T>C - NBN_000028 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.899A>G r.(?) p.(Gln300Arg)
8 Parent #2 ./. g.145737022C>T - RECQL4_000095 rs35412242 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+42G>A - p.?
8 Parent #2 ./. g.145737373C>T - RECQL4_000021 rs36078464 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
11 Parent #2 ./. g.47259462T>G - DDB2_000003 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1098T>G r.(=) p.(=)
13 Parent #2 ./. g.32907407A>G - BRCA2_000034 rs28897710 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1792A>G r.(?) p.(Thr598Ala)
13 Parent #2 ./. g.49039360T>C - RB1_000037 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2345T>C r.(?) p.(Ile782Thr)
14 Parent #2 ./. g.45605688G>T - FANCM_000059 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.454G>T r.(?) p.(Glu152*)
14 Parent #2 ./. g.45605689A>T - FANCM_000052 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.455A>T r.(?) p.(Glu152Val)
16 Parent #2 ./. g.68842771del - CDH1_000010 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.687+20del r.(=) p.(=)
Legend