Disease #00007

Official abbreviation -
Name cancer, ovarian
OMIM ID 167000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 49
Phenotype entries for this disease 20
Associated with 2 genes MLH3, MSH3
Associated tissues fallopian tube;ovary
Disease features -
Remarks -


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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Pedigree information available     

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Disease     

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Genes screened

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00002178 - F - - InSiGHT LOVDv2 ID:1013607; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 InSiGHT group
00002181 - - - - InSiGHT LOVDv2 ID:1013816; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC, cancer, ovarian - MSH6 MSH6 1 1 InSiGHT group
00002195 - F - - InSiGHT LOVDv2 ID:15525; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002198 - F - - InSiGHT LOVDv2 ID:15526; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002219 - F - - InSiGHT LOVDv2 ID:15519; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002296 - F - - InSiGHT LOVDv2 ID:15527; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002299 - F - - InSiGHT LOVDv2 ID:15528; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002331 - F - - InSiGHT LOVDv2 ID:15520; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002852 - F - - InSiGHT LOVDv2 ID:15522; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00002872 - F - - InSiGHT LOVDv2 ID:15523; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00003092 - F - - InSiGHT LOVDv2 ID:15524; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Michael Woods
00003447 - - - - InSiGHT LOVDv2 ID:1016929; This data has been transferred from InSiGHT LOVDv2 database. - AMS2 - cancer, ovarian - MSH6 MSH6 1 1 InSiGHT group
00003454 - - - - InSiGHT LOVDv2 ID:1016933; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda - cancer, ovarian - MSH6 MSH6 1 1 InSiGHT group
00003503 - F - - InSiGHT LOVDv2 ID:1017189; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, ovarian - MSH6 MSH6 1 1 Yosuke Hirotsu
00003663 - F Germany - - - mother uterus and breast cancer of unknown age at diagnosis - cancer, ovarian >50 y ovarial carcinoma MLH1, MSH2, MSH6, PMS2 MLH1 2 1 Elke Holinski-Feder
00003919 - F UK - Ovarian cancer at 36y (or cysts?), Rectal cancer at 59y, Renal cancer at 59y (clear cell), Endometrial cancer at 59y, Urothelial bladder carcinoma at 76y IHC: Negative for MSH6 (endometrial and rectal tumours) MSH2 – no mutations detected - Proband’s father had colorectal cancer aged 66 (now deceased) Proband’s paternal uncle had colorectal cancer in his late 40s (now deceased) Proband’s paternal uncle’s son: Transitional cell cancer of ureter at 74y, Colorectal cancer at 72y Microsatellite markers – unstable IHC studies have been conducted again on the colorectal and endometrial tumours. This time there was positive staining for MSH2, MLH1 and PMS2, and only negative staining for MSH6 BRAF V600E absent MSH6 variant present - cancer, bladder, cancer, endometrial, cancer, kidney, cancer, ovarian, cancer, rectal , Renal cancer at 59y (clear cell), Urothelial bladder carcinoma at 76y MSH2, MSH6 MSH6 1 1 John Paul Plazzer
00019524 - F - - InSiGHT LOVDv2 ID:1005621; - - - cancer, ovarian - MLH1 MLH1 1 1 Michael Woods
00021116 - F - - InSiGHT LOVDv2 ID:1007346; - - - cancer, ovarian - MLH1 MLH1 1 1 Michael Woods
00021244 - ? - - InSiGHT LOVDv2 ID:1007479; - - - cancer, ovarian - MLH1 MLH1 1 1 Michael Woods
00021331 - F - - InSiGHT LOVDv2 ID:1007567; - - - cancer, ovarian - MLH1 MLH1 1 1 Michael Woods
00022232 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013533; - Bethesda - CRC, cancer, endometrial, cancer, ovarian , Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 InSiGHT group
00022237 - F - - InSiGHT LOVDv2 ID:1013538; - AM II - CRC, cancer, ovarian , Ovarian cancer 41 MLH1 MLH1 1 1 InSiGHT group
00022241 - F - - InSiGHT LOVDv2 ID:1013542; - AM II - CRC, cancer, ovarian , Ovarian cancer 48 MLH1 MLH1 1 1 InSiGHT group
00022245 - F - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013546; - Bethesda - CRC, cancer, ovarian CRC Synchronous;, Ovarian cancer 45 MLH1 MLH1 1 1 InSiGHT group
00022248 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013549; - Bethesda - CRC, cancer, endometrial, cancer, ovarian CRC Metachronous (46y, 48y), Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 InSiGHT group
00022666 - F - - InSiGHT LOVDv2 ID:1016735; - Am II - cancer, ovarian Ovary MLH1 MLH1 1 1 InSiGHT group
00022763 - - - - InSiGHT LOVDv2 ID:1016998; - - - cancer, ovarian cancer, ovarian MLH1 MLH1 1 1 James Whitworth
00025066 - F - - InSiGHT LOVDv2 ID:1000009; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00025071 - F - - InSiGHT LOVDv2 ID:1000010; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00025406 - ? - - InSiGHT LOVDv2 ID:1016803; - Amsterdam - cancer, ovarian - MSH2 MSH2 1 1 InSiGHT group
00025488 - F ES - InSiGHT LOVDv2 ID:1017139; - - - cancer, ovarian - MSH2 MSH2 1 1 José Luis Soto
00025513 - F - - InSiGHT LOVDv2 ID:1000011; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00025521 - F - - InSiGHT LOVDv2 ID:1000012; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00025838 - F - - InSiGHT LOVDv2 ID:1000013; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00026056 - ? - - InSiGHT LOVDv2 ID:12415; - A- - cancer, ovarian - MSH2 MSH2 1 1 InSiGHT group
00026874 - F - - InSiGHT LOVDv2 ID:1000014; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00026890 - F - - InSiGHT LOVDv2 ID:1000015; - - - cancer, ovarian - MSH2 MSH2 1 1 Michael Woods
00027968 - F - - InSiGHT LOVDv2 ID:12967; - - - cancer, ovarian - PMS2 PMS2 1 1 Michael Woods
00028034 - F - - InSiGHT LOVDv2 ID:12988; - - - cancer, ovarian - PMS2 PMS2 1 1 Michael Woods
00028154 - F - - InSiGHT LOVDv2 ID:12836; - - - cancer, ovarian - PMS2 PMS2 1 1 Michael Woods
00028206 - F - - InSiGHT LOVDv2 ID:12872; - - - cancer, ovarian - PMS2 PMS2 1 1 Michael Woods
00028282 - F ES - InSiGHT LOVDv2 ID:1017149; - B+ - cancer, ovarian ovarian cancer 44y PMS2 PMS2 1 1 José Luis Soto
00028508 - F Argentina - - Yes - - CRC, Lynch Syndrome, cancer, endometrial, cancer, ovarian - MLH1, MUTYH MLH1 1 1 Tamara Piñero
00028650 - F netherlands - - - - IHC cancer, ovarian - MLH1, PMS2 MLH1 1 1 Carli Tops
00033794 - F Japan Asian - Yes father; colorectal cancer, gastric cancer uncle; pancreatic cancer, gastric cancer grand mother; gastric cancer, grand father; lung cancer Family histroy, MSI, IHC Lynch Syndrome, cancer, endometrial, cancer, ovarian - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Takashi Takeda
00033840 Pensabene et al. 2016 F Italy - "Both genetic alterations were found in the patients’ father DNA. Genetic testing performed on DNA from patient’s mother revealed a pathogenic mutation, c.229T>C, in exon 3 of the MLH1 gene, which determines a dramatic amino-acid change at protein level, p.Cys77Arg. This mutation was not identified in our index case." - "Pedigree analysis suggested a clinical diagnosis of Lynch II syndrome, according to the Amsterdam criteria" - cancer, ovarian very early onset epithelial ovarian cancer - MSH2 2 1 John Paul Plazzer
00033859 - F - - - Yes Am II Family History cancer, ovarian - PMS2 PMS2 1 1 Gabriel Capellá
00033860 - F - - - Yes Am II Family History cancer, ovarian - PMS2 PMS2 1 1 Gabriel Capellá
00034115 - - (USA) - The family history is noted for several relatives with colon cancer-but none living to test for the VUS. - - - cancer, ovarian endometrioid subtype - MSH6 1 1 John Paul Plazzer
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