Disease #00017

Official abbreviation -
Name cancer
OMIM ID -
Individuals reported having this disease 75
Phenotype entries for this disease 73
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues -
Disease features -
Remarks -


Individuals

75 entries on 1 page. Showing entries 1 - 75.
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Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

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00002048 InSiGHT Variant Interpretation Committee April 2016 - - - patient with multiple sebaceous adenomas, carcinomas and keratoacanthomas (Muir-Torre phenotype), apparently no history of internal organ tumors in the family (he will soon undergo surgery for a liver tumor, at the age of 80 years). MSI/IHC not done - no family history - cancer - MSH2 MSH2 1 1 MAURIZIO GENUARDI
00002849 - M - - InSiGHT LOVDv2 ID:1016862; This data has been transferred from InSiGHT LOVDv2 database. - AMS-; - cancer Additional info: metastasis adenocarc, unknown origin; MSH6 MSH6 1 1 InSiGHT group
00003046 - - - - InSiGHT LOVDv2 ID:1016213; This data has been transferred from InSiGHT LOVDv2 database. - Amsterdam: Positive; - cancer Duodenal MSH6 MSH6 1 1 InSiGHT group
00003519 Liu et al. (2015) M - Caucasian - - His father presented with colorectal cancer at age 38 and died at 40. His sister had three hyperplastic polyps at 43 and a partial thyroidectomy (not cancer). His mother was diagnosed with non-Hodgkin lymphoma and colorectal cancer at 65 and 72, respectively. The proband's paternal grandmother had breast and liver cancer and cancer of unknown primary and died at age 47. She also had a hysterectomy at an unknown age and for unknown reasons. MSH2- and MSH6- cancer Three tubular adenomas (one with severe epithelial dysplasia) in the proximal colon, a squamous cell carcinoma on the cheek, a thyroid follicular adenoma and a multi-nodular goitre (38). Three tubular adenomas, two tubulovillous adenomas (one was a recurrent polyp at anastomosis site from previous hemicolectomy) and multiple hyperplastic polyps were resected from his colon (44). Two sebaceous adenomas (48) and a duodenal polyp (52). Developed sebaceomas on the face every 1-2 years since age 48. MLH1, MSH2 MSH2 3 1 Robyn Ward
00003606 - F Germany - - - no information - cancer 68 y colon-ca coecal + bilateral ovarial cysts MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003631 - M UK - - - - - CRC, cancer , thyroid cancer MSH6 MSH6 1 1 Helen Lindsay
00019440 - F - - InSiGHT LOVDv2 ID:1005535; - - - cancer atypical hyperplasia, focal endometriod carcinoma MLH1 MLH1 1 1 Michael Woods
00020355 - ? - - InSiGHT LOVDv2 ID:1006520; - - - CRC, cancer, cancer, kidney biliary tract cancer (65), cancer, kidney (62), colon cancer (45) MLH1 MLH1 1 1 Michael Woods
00020358 - ? - - InSiGHT LOVDv2 ID:1006523; - - - cancer, cancer, pancreatic, other acusticus neurinoma (58),, cancer, ureter (44), pancreatic cancer (71), urinary bladder (62, 65), MLH1 MLH1 1 1 Michael Woods
00020359 - ? - - InSiGHT LOVDv2 ID:1006524; - - - cancer cancer, ureter (49) MLH1 MLH1 1 1 Michael Woods
00020360 - ? - - InSiGHT LOVDv2 ID:1006525; - - - CRC, cancer cancer, ureter (58), colon cancer (57) MLH1 MLH1 1 1 Michael Woods
00020361 - ? - - InSiGHT LOVDv2 ID:1006526; - - - cancer, cancer, endometrial cancer, ureter (77), endometrium cancer (55) MLH1 MLH1 1 1 Michael Woods
00020362 - ? - - InSiGHT LOVDv2 ID:1006527; - - - cancer biliary tract cancer, cancer, urinary bladder (42) MLH1 MLH1 1 1 Michael Woods
00020363 - ? - - InSiGHT LOVDv2 ID:1006528; - - - CRC, cancer, cancer, skin cancer, urinary bladder (65), colon cancer (29), colon cancer (41), colon cancer (47), skin cancer (64) MLH1 MLH1 1 1 Michael Woods
00021997 - F - - InSiGHT LOVDv2 ID:1008489; - - - cancer, cancer, endometrial , cancer, thyroid / parathyroid MLH1 MLH1 1 1 Amanda Spurdle
00022151 - M - - InSiGHT LOVDv2 ID:1013351; - Bethesda - cancer Small intestine cancer MLH1 MLH1 3 1 InSiGHT group
00022317 - - - - InSiGHT LOVDv2 ID:1013765; - - - cancer MLH1- in 1 tumour MLH1 MLH1 1 1 InSiGHT group
00022318 - - - - InSiGHT LOVDv2 ID:1013766; - - - cancer MLH1- in 1 tumour MLH1 MLH1 1 1 InSiGHT group
00022404 - F - - InSiGHT LOVDv2 ID:1016067; - None - cancer Malignant neoplasm of cervix utery (C53.9); Second tumor: Ovary borderline MLH1 MLH1 1 1 InSiGHT group
00022597 - - - - InSiGHT LOVDv2 ID:1016598; - AMS2 - cancer Duod64, MSI High, ihc mlh1-,pms2- MLH1 MLH1 1 1 InSiGHT group
00022626 - - - - InSiGHT LOVDv2 ID:1016668; - Index variant present; mother not tested - cancer Index C49,ihc,mlh1-; Cancer mother ihc mlh1- MLH1 MLH1 1 1 InSiGHT group
00022644 - M - - BRAF V600E mutation status: no info; BRAF testing method: ;InSiGHT LOVDv2 ID:1016702; - ""endometral cancer in family"" - cancer gastric and colon; tested 64y MLH1 MLH1 1 1 InSiGHT group
00022734 - F - - BRAF V600E mutation status: n/a; BRAF testing method: ;InSiGHT LOVDv2 ID:1016888; - - - cancer GYN neoplasm MLH1 MLH1 1 1 InSiGHT group
00022749 - ? - - InSiGHT LOVDv2 ID:1016957; - - - cancer MSI H IHC failed MLH1 MLH1 1 1 InSiGHT group
00022942 - - - - InSiGHT LOVDv2 ID:1017009; - - - cancer - MSH2 MSH2 1 1 James Whitworth
00023060 - F - - InSiGHT LOVDv2 ID:1000017; - - - cancer endometrioid adenocarcinoma and borderline ovarian cancer (68), breast cancer (40) MSH2 MSH2 1 1 Michael Woods
00023270 - ? - - InSiGHT LOVDv2 ID:1003086; - - - cancer hepatocellular carcinoma MSH2 MSH2 1 1 Michael Woods
00023324 - F - - InSiGHT LOVDv2 ID:1000008; - - - cancer breast ca, rectal ca, synchronous endometrial ca, primary fallopian tube carcinoma MSH2 MSH2 1 1 Michael Woods
00023510 - ? - - InSiGHT LOVDv2 ID:16; - - - cancer T-Cell non-Hodgkin lymphoma (NHL) in children MSH2 MSH2 2 1 Michael Woods
00023541 - ? - - InSiGHT LOVDv2 ID:1000136; - - - cancer family: colon cancer (X2), uterus, kidney, bladder and/or small intestine at ages 16, 24, 43, 44, 45, and 57, respectively. MSH2 MSH2 1 1 Michael Woods
00024610 - F - - InSiGHT LOVDv2 ID:1000019; - - - cancer papillary adenocarcinoma of the endocervix, adenocarcinoma of the ovary, endometrium hyperplasia (51) MSH2 MSH2 1 1 Michael Woods
00024682 - ? - - InSiGHT LOVDv2 ID:1003078; - - - cancer gynecologic and intestinal cancers MSH2 MSH2 1 1 Michael Woods
00024970 - F - - BRAF V600E mutation status: n/a; BRAF testing method: ;InSiGHT LOVDv2 ID:1016890; - - - cancer Breast and uterine cancers MSH2 MSH2 1 1 InSiGHT group
00025332 - ? - - InSiGHT LOVDv2 ID:1003180; - - - cancer hepatocellular carcinoma MSH2 MSH2 1 1 Michael Woods
00025373 - F - - InSiGHT LOVDv2 ID:1000016; - - - cancer endometrioid adenocarcinoma (43),colorectal cancer (36) MSH2 MSH2 1 1 Michael Woods
00025478 - F - - InSiGHT LOVDv2 ID:1016052; - Am II - cancer Endometrioid adenocarcinoma MSH2 MSH2 2 1 InSiGHT group
00025640 - F - - InSiGHT LOVDv2 ID:1000018; - - - cancer - MSH2 MSH2 1 1 Michael Woods
00025962 - M - - InSiGHT LOVDv2 ID:1013589; - None - cancer Urothelial Cancer MSH2 MSH2 1 1 InSiGHT group
00026030 - F - - InSiGHT LOVDv2 ID:1000021; - - - cancer urinary bladder cancer (56), endometrium cancer (38) MSH2 MSH2 1 1 Michael Woods
00026371 - ? - - InSiGHT LOVDv2 ID:1008039; - - - cancer cancer, lymphoma MSH2 MSH2 1 1 Daniel Rueda
00026517 - F - - InSiGHT LOVDv2 ID:1000022; - - - cancer endometrioid adenocarcinoma (48) MSH2 MSH2 1 1 Michael Woods
00026585 - F - - InSiGHT LOVDv2 ID:1000024; - - - cancer ureter cancer (63), ovary and endometrium (52), colon (64) MSH2 MSH2 1 1 Michael Woods
00026722 - ? - - InSiGHT LOVDv2 ID:1000142; - - - cancer hepatocellular carcinoma MSH2 MSH2 1 1 Michael Woods
00027083 - F - - InSiGHT LOVDv2 ID:1000023; - - - cancer endometrioid adenocarcinoma (51) MSH2 MSH2 1 1 Michael Woods
00027196 - F UK British Had predictive test for MSH2 c.2090G>A prior to developing cancer. Unknown primary but felt most likely to be colonic.;InSiGHT LOVDv2 ID:1017234; Yes - Unknown cancer cancer, unspecified MSH2 MSH2 1 1 Ian Frayling
00027197 - M - - InSiGHT LOVDv2 ID:1017285; - - - cancer Rhabdomyosarcoma(55y), Adenocarc pancreas(60y), pap.uroth cell(62y); all 3 IHC msh2-,msh6- MSH2 MSH2 1 1 Carli Tops
00027266 - F - - Proband also had ca of descending colon at 56. Mother had endometrial ca and father had stomach ca. ;InSiGHT LOVDv2 ID:1008487; - B+ - cancer endo (44) MSH2 MSH2 1 1 Michael Woods
00027498 - ? - - InSiGHT LOVDv2 ID:1000143; - - - cancer hepatocellular carcinoma MSH2 MSH2 1 1 Michael Woods
00027564 - F - - InSiGHT LOVDv2 ID:1016065; - Bethesda - cancer Endometrioid adenocarcinoma MSH2 MSH2 1 1 InSiGHT group
00027705 - F - - InSiGHT LOVDv2 ID:24; - - - cancer endocervical endometrioid adenocarcinoma (39) MSH2 MSH2 2 1 Michael Woods
00027708 - F ES - InSiGHT LOVDv2 ID:1017222; Yes - Colorectal symptoms cancer CRC;cancer, endometrial MSH2 MSH2 1 1 sira moreno
00027890 - F UK - duodenal cancer, 45 yr;InSiGHT LOVDv2 ID:1011003; - - - cancer - PMS2 PMS2 1 1 Carli Tops
00027966 - ? - - InSiGHT LOVDv2 ID:1017223; - - - cancer cancer, endometrial;cancer, rectal;polyposis; Cafe-au-lait macule PMS2 PMS2 2 1 Maureen Mork
00027969 - F - - InSiGHT LOVDv2 ID:1017168; - - - cancer - PMS2 PMS2 1 1 Gabriel Capellá
00027972 - ? - - InSiGHT LOVDv2 ID:12747; - - - cancer cancer, childhood PMS2 PMS2 2 1 Michael Woods
00028100 - ? - - InSiGHT LOVDv2 ID:1013046; - - - cancer - PMS2 PMS2 1 1 Gabriel Capellá
00028165 - M NL - small bowel carcinoma;InSiGHT LOVDv2 ID:1012047; - - - cancer - PMS2 PMS2 1 1 Carli Tops
00028242 - M CU;DE;UK - InSiGHT LOVDv2 ID:1012822; Yes AI+ - cancer colon 36y, SCC 47, colon 52 MSH6, PMS2 MSH6, PMS2 2 1 Amie Blanco
00028314 - ? NL - InSiGHT LOVDv2 ID:1017242; - - - cancer cancer, childhood PMS2 PMS2 2 1 Carli Tops
00028344 - ? - - InSiGHT LOVDv2 ID:12741; - - - cancer cancer, childhood PMS2 PMS2 2 1 Michael Woods
00028347 - ? - - InSiGHT LOVDv2 ID:12943; - - - cancer cancer, childhood PMS2 PMS2 1 1 Michael Woods
00028433 - ? FI - InSiGHT LOVDv2 ID:12244; - - - cancer endometrial cancer 46y, ovarian cancer 46y MLH3, MSH6 MSH6 1 1 Rolf Sijmons
00028514 - M - - - - none - polyposis, cancer individual with >50 polyps, Urothelial Cancer APC APC 1 1 Michele Ciavarella
00033740 C: in Win et al. (2011) M - - Father Skin;ns 67y, PR;Carcinoma 76y - - Referred to Genetics by: Pathologist; Referral reason: Incident case screening CRC, cancer, cancer, rectal colon, not otherwise specified;carcinoma, Rectal;Carcinoma 37y,, UR;Ca 47y - MSH2 1 1 Ian Frayling
00033759 - F USA - - - family history is largely negative with the exception of mother with breast cancer at 72 (still living at 90) and a maternal uncle with colon cancer at 50 (passed away at 104) - cancer uterine cancer; MSI-H in 3/5 markers and patchy loss of MSH6 staining MSH6 MSH6 1 1 John Paul Plazzer
00033764 - F USA Indian - Yes strong family history of other Lynch-related cancers - CRC, cancer , ureter cancer, uterine cancer - MLH1 1 1 John Paul Plazzer
00033804 - - - - - Yes - - cancer Colon cancer MSH6 MSH6 1 1 Matthew Daly
00033849 Urakami et al, 2017 F - - - - - - CRC, cancer upper urinary tract urothelial cancer - MSH2 1 1 John Paul Plazzer
00034082 Fazekas-Lavu et al. 2017 F - - - - "The family history included ovarian, endometrial, and colon cancer in several first-degree relatives." - CRC, cancer , sporadic thyroid cancer - MSH2 1 1 John Paul Plazzer
00034088 Hu et al. 2017 F China Chinese - Yes "family could be diagnosed as having Lynch syndrome if they were excluded from familial adenomatous polyposis (FAP). In fact, patients who were still alive were all proved to be FAP-negative by colonoscopy during the regular follow-up." - cancer, cancer, breast, cancer, endometrial, cancer, kidney , Left renal pelvis, Right breast, small intestine cancer - MSH2 1 1 John Paul Plazzer
00034811 Shinmura 2001 - United States - among 43 US individuals with various types of carcinoma - - - cancer carcinoma MUTYH MUTYH 1 2 Carli Tops
00034814 Shinmura 2001 - United States - Among 43 US individuals with various types of carcinoma - - - cancer carcinoma MUTYH MUTYH 1 2 Carli Tops
00035889 Baudhuin 2006 M (United States) white 3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G - - - cancer cholangiocarcinoma, inflammatory bowel disease; no evidence for primary sclerosing cholangitis; 23y (for IBD) otal colectomy; no CRC; no polyps MUTYH MUTYH 1 1 Astrid Out
00035890 Baudhuin 2006 M (United States) white 3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G - - - cancer cholangiocarcinoma; no CRC; no polyps MUTYH MUTYH 1 1 Astrid Out
00035891 Baudhuin 2006 F (United States) white 3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G - - - cancer cholangiocarcinoma; no CRC; no polyps MUTYH MUTYH 1 1 Astrid Out
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