Disease #00097

Official abbreviation ENC
Name Endometrial cancer, familial
OMIM ID 608089
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 102
Phenotype entries for this disease 101
Associated with 1 gene MSH6
Associated tissues -
Disease features -
Remarks -


Individuals

102 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
Reference     
Gender     
Geographic origin     
Geographic origin     
Population     
Consanguinity     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00014827 - F Neromyli, Larisa Potamia, Larisa Greek no - BrCa, ENC, OVCA - - TP53 1 1 Despoina Kalfakakou
00014830 - F Asia Minor Aridaia, Pella Greek no - BrCa, ENC, OVCA - BRCA1 BRCA1 1 6 Despoina Kalfakakou
00014959 - F Xanthi Naousa Greek no - BrCa, ENC - CHEK2 CHEK2 1 3 Despoina Kalfakakou
00014984 - F - - Greek no - BrCa, ENC - - - 0 1 Despoina Kalfakakou
00014992 - F - - Greek no - BrCa, ENC - - - 0 1 Despoina Kalfakakou
00015387 - F Larisa Skopelos Greek no - BrCa, CWS1, ENC, EnPol - - CHEK2, PTEN 2 1 Despoina Kalfakakou
00015605 - F Asia Minor Sparti Greek no - BrCa, ENC - - BLM, MLH1, NF1, PPM1D, RECQL4, RET 8 1 Despoina Kalfakakou
00015829 - F Oraiokastro, Thessalonikis - Greek no - BrCa, ENC - - BRCA1 1 3 Despoina Kalfakakou
00015950 - F Lesvos - Greek no - BrCa, ENC - - - 0 1 Despoina Kalfakakou
00016159 - F Syros Megara Greek no - ENC - BRIP1, CHEK2 BRIP1 1 4 Despoina Kalfakakou
00016403 - F Santorini - Greek no - BrCa, ENC, OVCA - BRCA1 BRCA1 1 1 Despoina Kalfakakou
00016444 - F Aivali Petilidi, Messinia Greek no - BrCa, ENC - BRCA2 - 0 1 Despoina Kalfakakou
00016677 - F Kefalonia Pisidia, Asia Minor Greek no - BrCa, ENC - - BRCA1, NF1, PALB2, PMS2, RECQL4 9 3 Despoina Kalfakakou
00016709 - F - - Greek no - BrCa, CRC, ENC - BRCA1 - 0 1 Despoina Kalfakakou
00016714 - F Neochori, Domokos - Greek no - BrCa, ENC - - ATM, BAP1, CDC73, EZH2, FANCD2, MLH1, TSC2 10 2 Despoina Kalfakakou
00016752 - F Russia - Greek no - BrCa, ENC - - APC, CDH1, DIS3L2, FANCC, FANCD2, FANCE, MEN1, PALB2, RHBDF2, TSC2 11 8 Despoina Kalfakakou
00016753 - F Russia - Greek no - BrCa, ENC - PALB2 PALB2 1 7 Despoina Kalfakakou
00016988 - F Karditsa - Greek no - BrCa, ENC - BRCA1 - 0 1 Despoina Kalfakakou
00017420 - F Constantinople - Greek no - BrCa, ENC - BRCA1 BRCA1 1 3 Despoina Kalfakakou
00017607 - F Kalamata - Greek no - BrCa, ENC, OVCA - - ALK, APC, BRCA2, BRIP1, NF1, PALB2, TSC2 10 1 Despoina Kalfakakou
00018069 - F - - Greek no - BrCa, ENC - BRCA1 - 0 1 Despoina Kalfakakou
00019124 - F Arcadia - Greek no - ENC - - BLM, BRCA1, EGFR, FANCD2, FANCM, MSH6, RECQL4, TSC2 9 1 Despoina Kalfakakou
00019583 - F - - - no - CRC, ENC, OVCA - MLH1, MSH2 - 0 1 Despoina Kalfakakou
00019586 - F - - Greek no - ENC - MLH1 MLH1 1 1 Despoina Kalfakakou
00019606 - F - - - no - CRC, ENC - MSH2 MSH2 1 1 Despoina Kalfakakou
00019615 - F - - - no - ENC - MSH2 MSH2 1 1 Despoina Kalfakakou
00019635 - F - - Greek no - ENC - MLH1 MLH1 1 1 Despoina Kalfakakou
00019721 - F - - Greek no - ENC - MSH6 MSH6 1 1 Despoina Kalfakakou
00019724 - F - - Greek no - CRC, ENC - - - 0 1 Despoina Kalfakakou
00019730 - F Heraklion, Crete - Greek no - CRC, ENC - - - 0 1 Despoina Kalfakakou
00019733 - F Athens Piraeus Greek no - AppCa, CRC, ENC - - - 0 3 Despoina Kalfakakou
00019775 - F Limnes, Argos Chiliomodi, Corinth Greek no - BrCa, CRC, ENC, PNCA2 - - BMPR1A, BRCA2, DICER1, ERCC3, FANCD2, MSH2, MSH6, RET, SDHB 9 3 Despoina Kalfakakou
00019779 - F Karditsa - Greek no - CRC, ENC - MLH1 MLH1 1 3 Despoina Kalfakakou
00019782 - F Syros - Greek no - CRC, ENC - - ERCC5, MSH6, MUTYH, PRKAR1A, TSC1, TSC2 6 1 Despoina Kalfakakou
00019875 - F Arcadia Sparti Greek no - CRC, ENC - MLH1 MLH1 1 1 Despoina Kalfakakou
00019953 - F Zakynthos - Greek no - CRC, ENC, OVCA - - BLM, DIS3L2, ERCC4, PMS2, SUFU, WRN 8 1 Despoina Kalfakakou
00019993 - F Sfikia, Imathia Protokklisi, Soufli Greek no - ENC - MSH2 MSH2 1 2 Despoina Kalfakakou
00020013 - F Asia Minor - Greek no - CRC, ENC, SkCa - - BAP1, BRCA1, CHEK2, ERCC4, ERCC5, MSH2, MUTYH, NF1, PMS2, RET, SBDS, SLX4, TSC2 21 1 Despoina Kalfakakou
00020015 - F Aneza, Arta Apomero, Arta Greek no - ColPol, CRC, ENC, OVCA, SkCa - MLH1 MLH1 1 3 Despoina Kalfakakou
00020019 - F Vlachopoulo, Messene Liti, Thessaloniki Greek no - ENC - MSH2 MSH2 1 2 Despoina Kalfakakou
00020094 - F Asia Minor Neos Marmaras, Halkidiki Greek no - CRC, ENC - MSH2 MSH2 1 1 Despoina Kalfakakou
00020095 - F Asia Minor Thessaloniki Greek no - ENC - - EGFR, FANCD2, RECQL4 3 1 Despoina Kalfakakou
00020096 - F Patras Konitsa Greek no - ENC - - BRCA2, CDH1, DICER1, FANCC, FANCG, NF1, NF2, PALB2, PTEN 11 1 Despoina Kalfakakou
00020097 - F Preveza Constantinople Greek no - ENC, ENDO, EnPol, OVCA - - AIP, ERCC5, EXT1, FANCD2, SLX4, TSC2 7 1 Despoina Kalfakakou
00020098 - F Kyriaki, Boeotia - Greek no - ENC - - BLM, EZH2, MLH1, MSH2, MUTYH, PMS2, TSC1, TSC2, XPA 11 1 Despoina Kalfakakou
00020099 - F Argolida Corinthia Greek no - ENC, EnPol, OVCA - - AIP, APC, CYLD, KIT, MLH1, MSH2, MSH6, RUNX1, SLX4, WRN, WT1 14 1 Despoina Kalfakakou
00020100 - F Samos - Greek no - ENC, EnPol - - ALK, BRCA1, FANCE, FANCL, FLCN, RECQL4, SMAD4, TSC2, XPC 9 1 Despoina Kalfakakou
00020101 - F Gouria, Messolonghi Stamna, Aetolia-Acarnania Greek no - ENC - - ALK, BRCA1, CEP57, DDB2, ERCC2, FANCF, FANCI, RHBDF2, WRN 10 1 Despoina Kalfakakou
00020102 - F Arcadia Athens Greek no - ENC, EnPol - - ALK, BRCA1, CDH1, GATA2, MLH1, SDHC, WRN 12 1 Despoina Kalfakakou
00020103 - F Serres - Greek no - ENC, EnPol - - BAP1, NSD1, PRF1, RECQL4 4 1 Despoina Kalfakakou
00020104 - F Rumania Greece Rumanian-Greek no - ENC - - FANCI, NBN, RB1, SLX4, TSC2 8 1 Despoina Kalfakakou
00020106 - F Archaia Olympia Arta Greek no - ENC - - BRCA2, FANCD2, FANCM, GPC3, MET, PTCH1, RET, SLX4 8 1 Despoina Kalfakakou
00020107 - F Cassandra, Halkidiki Marathousa, Halkidiki Greek no - ENC, EnPol - - ALK, CHEK2, CYLD, EPCAM, ERCC4, FANCA, NSD1, SDHD 8 1 Despoina Kalfakakou
00020108 - F Kalymnos - Greek no - ENC - - APC, BMPR1A, BRCA2, DIS3L2, ERCC4, FANCA, KIT, PTCH1 10 1 Despoina Kalfakakou
00020109 - F Krestena, Ilia Chora, Messenia Greek no - ENC, EnPol - - CHEK2, DDB2, FANCA, FANCI, MLH1, TSC2 7 1 Despoina Kalfakakou
00020110 - F Asia Minor Rapsani, Larisa Greek no - ENC, EnPol - - BLM, DIS3L2, FANCA, FANCE, FANCL, MET, MSH2, MUTYH, PALB2, PTCH1, SLX4 15 1 Despoina Kalfakakou
00020111 - F Simi Kea Greek no - BladCa, ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020112 - F Vlachogianni, Larisa - Greek no - ENC, OVCA - - ATM, ERCC3, FANCA, FANCL, FLCN, PMS2, RECQL4, WT1 9 1 Despoina Kalfakakou
00020113 - F Marathea, Karditsa - Greek no - ENC - - ALK, BLM, CDH1, CEBPA, ERCC4, PALB2, PPM1D, SLX4, TSC2, WRN 10 1 Despoina Kalfakakou
00020114 - F Ierapetra, Crete - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020115 - F Russian Pontus - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020116 - F Santorini - Greek no - ENC - MLH1 - 0 1 Despoina Kalfakakou
00020117 - F Karditsa Mesochori, Fthiotida Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020118 - F Fthiotida - Greek no - CRC, ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020119 - F Aspropyrgos - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020120 - F Livadia - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020121 - F Edessa - Greek no - ENC - - ATM, BUB1B, ERCC4, ERCC5, KIT, MLH1, MSH2, RAD51D, SDHB 11 1 Despoina Kalfakakou
00020122 - F Kandila, Tripoli - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020123 - F Thessaloniki - Greek no - ENC - BRCA1 - 0 1 Despoina Kalfakakou
00020124 - F Neochori, Laconia Achladokampos, Argolis Greek no - ENC, EnPol - - ATM, BRCA2, DDB2, ERCC3, FANCC, FANCM, MLH1, RAD51C, RB1, SDHC, TSC2, XPC 24 1 Despoina Kalfakakou
00020125 - F Athens Samos Greek no - ENC - - ATM, BAP1, BRCA2, DICER1, ERCC3, EZH2, FANCI, MSH2, NF1, TSC2 12 1 Despoina Kalfakakou
00020673 - F Agistri - Greek no - ENC, TRC - RET - 0 1 Despoina Kalfakakou
00020816 - F Eleusis - Greek no - CMM3, ENC - - FANCA, FANCD2, HNF1A, MLH1, NSD1, RB1, RET, SMAD4, TSC2, VHL 11 1 Despoina Kalfakakou
00020817 - F Ano Moulia, Crete - Greek no - BrCa, ENC - BRCA1, BRCA2 - 0 1 Despoina Kalfakakou
00020826 - F Constantinople Asia Minor Greek no - ENC, PNCA2, TRC - - BRCA2, DDB2, FANCD2, TSC2, WRN 6 1 Despoina Kalfakakou
00020945 - F Ios Asia Minor Greek no - BrCa, ENC, NF, TRC - - ATM, BUB1B, CHEK2, DICER1, FANCC, MAX, PPM1D, PRF1, PTEN, RB1, TSC2, XPC 14 1 Despoina Kalfakakou
00020979 - F Aliveri Chalcis Greek no - ENC, OVCA - - - 0 1 Despoina Kalfakakou
00021057 - F Arta - Greek no - ENC, OVCA - - - 0 1 Despoina Kalfakakou
00021186 - F Thessaloniki - Greek no - ENC, OVCA - BRCA1 - 0 1 Despoina Kalfakakou
00021196 - F Ioannina - Greek no - ENC, OVCA - - ATM, BRIP1, DIS3L2, EGFR, FANCA, FANCB, FANCD2, GPC3, HNF1A, MEN1, PALB2, PHOX2B, PRF1, SDHC 15 1 Despoina Kalfakakou
00021267 - F Florina Aridaia Greek no - ENC, OVCA - - BRIP1, BUB1B, SUFU 4 1 Despoina Kalfakakou
00021320 - F Katerini Katerini Greek no - ENC, OVCA - - BUB1B, CHEK2, DIS3L2, GATA2, NF1, TSC1 8 1 Despoina Kalfakakou
00021338 - F Gytheio, Laconia Messenia Greek no - ENC, OVCA - - ATM, CHEK2, EXT2, FANCD2, PMS2, SLX4, TP53, XPC 12 1 Despoina Kalfakakou
00021395 - F Mitilini - Greek no - ENC, OVCA - - ALK, APC, ATM, BAP1, FANCD2, FANCE, FANCI, RET, SLX4, TSC1, TSC2, WRN, XPC 13 1 Despoina Kalfakakou
00021399 - F Heraklion, Crete - Greek no - ENC, OVCA - - APC, BMPR1A, FANCA, MLH1, MSH6, MUTYH, RHBDF2, SLX4 11 1 Despoina Kalfakakou
00021419 - F Corfu - Greek no - ENC, OVCA - - EPCAM, MSH2, MSH6, NF1, PTEN, SDHB 9 1 Despoina Kalfakakou
00021425 - F Gorgomylos, Preveza, Ammopotamos, Arta Greek no - ENC, OVCA - - ERCC2, EXT2, FANCI, RB1, SLX4, TSC2, WRN 15 1 Despoina Kalfakakou
00021444 - F Germany - Greek no - ENC, OVCA - - BAP1, BRIP1, CDC73, CDH1, DDB2, FANCF, RHBDF2, STK11 9 1 Despoina Kalfakakou
00021709 - F - - Greek no - ENC, OVCA - - BAP1, FANCC, MLH1, MUTYH, PMS2, RUNX1, SBDS 11 1 Despoina Kalfakakou
00021749 - F Farsala Farsala Greek no - ENC, OVCA - - BLM, BRCA1, FANCI 3 1 Despoina Kalfakakou
00021755 - F Mazaraki, Elis Preveza Greek no - ENC, OVCA - - ATM, BRCA1, DICER1, ERCC3, NF1, SDHB, SLX4, SMARCB1 12 1 Despoina Kalfakakou
00021771 - F Fragkata, Cephalonia - Greek no - ENC, OVCA - - APC, ERCC4, FANCM, MLH1, NBN, PTCH1, SMARCB1 8 1 Despoina Kalfakakou
00021780 - F Kalamata - Greek no - ENC, OVCA - - AIP, APC, CHEK2, EPCAM, ERCC3, EXT2, MLH1, MSH2, PMS2 11 1 Despoina Kalfakakou
00021823 - F Eleutherna, Rethimno - Greek no - ENC, OVCA - - ALK, BAP1, FLCN, MSH6, SLX4, TSC2, WRN, XPC 10 1 Despoina Kalfakakou
00021840 - F Vachlia, Arcadia Kardaritsi, Arcadia Greek no - ENC, OVCA - - ALK, CHEK2, FANCD2, FANCE, FANCL, FANCM, NF1 8 1 Despoina Kalfakakou
00021854 - F Lesbos Crete Greek no - ENC, OVCA - - BRIP1, FANCB, FANCD2, FANCG, MLH1, NSD1, RECQL4, RHBDF2, SDHB, SLX4, TSC2, XPA 14 1 Despoina Kalfakakou
00021861 - F Drama & Pontus Evros Greek no - ENC, OVCA - - ALK, APC, FANCD2, MLH1, MSH2, MSH6, PRKAR1A, RECQL4, RET, TSC2 12 1 Despoina Kalfakakou
00021863 - F Asia Minor Andros Greek no - ENC, OVCA - - MET, MSH6, RET, SDHB 4 1 Despoina Kalfakakou
00021870 - F Sfelinos, Serres - Greek no - ENC, OVCA - - ALK, CDK4, DICER1, FANCA, FANCC, MET, MUTYH, PTCH1, RECQL4, SDHB 12 1 Despoina Kalfakakou
00021876 - F Roumeli, Phocis Dafnes, Phocis Greek no - ENC, OVCA - - MLH1 2 1 Despoina Kalfakakou
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