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CanVaS - A Greek Cancer Patient Genetic Variation Resource
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Disease #00184
Official abbreviation
SRCM
Name
Sarcoma
OMIM ID
-
Inheritance
-
Individuals reported having this disease
7
Phenotype entries for this disease
7
Associated with 0 genes
-
Associated tissues
-
Disease features
-
Remarks
-
Individuals
Legend
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Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender
: The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Geographic origin
: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Population
: Additional information on the individual's population.
Consanguinity
: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
7 entries on 1 page. Showing entries 1 - 7.
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Legend
Individual ID
Reference
Gender
Geographic origin
Geographic origin
Population
Consanguinity
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00016240
-
F
Chania
Pontus
Greek
no
-
BrCa, SRCM
-
BRCA1
-
0
1
Despoina Kalfakakou
00017393
-
F
Chortiatis, Thessaloniki
-
Greek
no
-
BladCa, BrCa, SRCM
-
BRCA1
-
0
1
Despoina Kalfakakou
00020105
-
F
Bulgaria
Platamon, Pieria
Bulgarian-Greek
no
-
SRCM
-
-
CHEK2, DIS3L2, GPC3, TSC2
5
1
Despoina Kalfakakou
00020778
-
M
Arta
-
Greek
no
-
SRCM
-
-
ATM, BAP1, BMPR1A, BUB1B, EGFR, FANCC, RB1
8
1
Despoina Kalfakakou
00020798
-
M
-
-
Greek
no
-
CAL, NF, SRCM
-
-
CEP57, FANCA, HNF1A, MLH1, MSH6, PTCH1, RECQL4, SLX4, TSC1, XPC
14
3
Despoina Kalfakakou
00020904
-
M
Asia Minor
Didymoteicho
Greek
no
-
CAL, NF, SRCM
-
-
AIP, CDH1, CEP57, DIS3L2, FANCD2, FANCM, KIT, MSH2, NBN, NF1, RHBDF2, WRN, XPC
14
4
Despoina Kalfakakou
00022014
-
F
-
-
-
-
-
LeioM, SRCM
endometrial, Uterus
-
ATM, BRCA2, FANCC, FANCM, MEN1, MLH1, NBN, SLX4, WRN
9
1
Despoina Kalfakakou
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