Disease #05487

Official abbreviation cancer, rectal
Name cancer, rectal
OMIM ID -
Inheritance -
Individuals reported having this disease 67
Phenotype entries for this disease 61
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

67 entries on 1 page. Showing entries 1 - 67.
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00183380 - - - M - - - - 0 - - cancer, rectal rectal, carcinoma EPCAM EPCAM 1 1 Ian Frayling
00183583 - - - ? - Canada - - 0 - - cancer, rectal Bethesda positive; MSS GALNT12 GALNT12 1 1 Michael Woods
00183584 - - - F - Canada - - 0 - - cancer, rectal Bethesda positive; skin cancer (82y) GALNT12 GALNT12 1 1 Michael Woods
00183591 - - DNA was not available from two CRC in family affected sisters of the proband, although a son of one of them had CRC in family at age 57 years but did not carry the variant. F - Canada - - 0 - - cancer, rectal Bethesda positive; 2 TAs (35y), 1 TA (60y), 3 TAs (61y), 3 TAs (62y) GALNT12 GALNT12 1 1 Michael Woods
00187514 - - - F - (Spain) - - 0 - - cancer, rectal, cancer, endometrial , Additional info: yes; Pedigree available: yes; MSH6 MSH6 1 1 Sira Moreno
00187545 - - - M - - - - 0 - - cancer, rectal Additional info: Rectum adenocarcinoma; MSH6 MSH6 1 1 INSiGHT group
00187811 - - - M - Spain - - 0 - - cancer, rectal - MSH6 MSH6 1 1 José Luis Soto
00188517 - - The MLH1 mutation comes from the girl’s mother (who is unaffected), whose father died from CRC at age 39 and has other affected relatives. The girl’s father passed the MSH6 mutation on to her, and he is unaffected, but as he was adopted he has no idea what his family history is. F - United Kingdom (Great Britain) - - 0 - - cancer, rectal 15y girl with a rectal cancer and a tubulovillous adenoma in the sigmoid colon. MLH1, MSH6 MLH1, MSH6 3 1 Ian Frayling
00188631 - - family history M - Finland - - 0 - - cancer, rectal - MSH2, MSH6 MSH2 1 1 Carli Tops
00188773 - - 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 F - United Kingdom (Great Britain) - - 0 - - cancer, bladder, cancer, kidney, cancer, ovarian, cancer, rectal, cancer, endometrial , Renal cancer at 59y (clear cell), Urothelial bladder carcinoma at 76y MSH2, MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00188844 - - - ? - - - - 0 - - cancer, rectal, cancer, endometrial cancer, endometrial (42), cancer, rectal (47) MLH1 MLH1 2 1 Michael Woods
00191763 - - - F - - - - 0 - - cancer, rectal - MLH1 MLH1 1 1 Michael Woods
00193823 - - - F - - - - 0 - - cancer, rectal - MLH1 MLH1 1 1 Michael Woods
00194562 - - - M - China - - 0 - - cancer, rectal - MLH1 MLH1 1 1 Peng Nan
00194768 - - - M - - - - 0 - - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 INSiGHT group
00194777 - - - M - - - - 0 - - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 INSiGHT group
00194865 - - - M - - - - 0 - - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 INSiGHT group
00194915 - - - M - - - - 0 - - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 INSiGHT group
00194931 - - - F - - - - 0 - - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 INSiGHT group
00194935 - - - F - - - - 0 - - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 INSiGHT group
00195129 - - - - - - - - 0 - - cancer, rectal, CRC Colon48, Rectum41 MLH1 MLH1 1 1 INSiGHT group
00195145 - - - - - - - - 0 - - cancer, rectal Rectal tumour: moderately well differentiated infiltrating adenoca MLH1 MLH1 1 1 INSiGHT group
00195206 - - Last known age healthy/unknown disease: 47;InSiGHT LOVDv2 ID:1016774; F - - - - 0 - - cancer, rectal Malignant neoplasm of rectum (C020). Last known age: 47y MLH1 MLH1 1 1 INSiGHT group
00195231 - - - M - - - - 0 - - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 INSiGHT group
00195806 - - - F - United Kingdom (Great Britain) - - 0 pedigree - cancer, rectal Rectum MSH2 MSH2 1 1 Ian Frayling
00196644 - - Possible de novo, as some evidence father may be a mosaic de novo, as the father also had a rectal Ca (53y), that was MSI-H, BRAF-wt, MSH2/6-;MLH1/PMS2+ on IHC.;InSiGHT LOVDv2 ID:1017293; M - United Kingdom (Great Britain) - - 0 pedigree - cancer, rectal Rectum (39y) BRAF-wt MSH2 MSH2 1 1 Ian Frayling
00197436 - - - F - - - - 0 - - cancer, rectal Malignant neoplasm of rectum MSH2 MSH2 1 1 INSiGHT group
00197576 - - - M - - - - 0 - - cancer, rectal - MSH2 MSH2 1 1 INSiGHT group
00197852 - - - F - China - - 0 - - cancer, rectal - MSH2 MSH2 1 1 Peng Nan
00197853 - - - F - China - - 0 - - cancer, rectal - MSH2 MSH2 1 1 Peng Nan
00197857 - - - M - - - - 0 - - cancer, rectal - MSH2 MSH2 1 1 INSiGHT group
00197868 - - - F - - - - 0 - - cancer, rectal - MSH2 MSH2 1 1 INSiGHT group
00198471 - - - M - - - - 0 - - cancer, rectal - MSH2 MSH2 1 1 INSiGHT group
00200939 - - Brother- prostate @ 50s, lymphoma @ 50s; Father- renal @ 55, CRC @ 59; Pat aunt- PSU @ 20s; Pat aunt- PSU @ 70s; Pat uncle- PSU @ 70; Pat 1st cousin- breast @ 28; PGF- CRC @ 60s, bladder @ 60s M - United States white - 0 - - cancer, rectal - MSH2, MSH6 MSH2, MSH6 2 1 InSiGHT - John-Paul Plazzer
00201502 - Stulp et al 2006 Stulp RP, Vos YJ, Mol B, Karrenbeld A, de Raad M, van der Mijle HJ, Sijmons RH. First report of a de novo germline mutation in the MLH1 gene. World J Gastroenterol. 2006, 12:809-11. M - - - - 0 - - cancer, rectal rectal;carcinoma; BRAF V600E positive - MLH1 1 1 Ian Frayling
00201509 - Fry, Palmer-Smith, Murray, Frayling, Hodgson, Tripathi Mother and aff'd son have VUS: MLH1 c.790+10A>G, but aff'd father (MSI+ BRAF- CR;Ca 53y) has neither mutation. Maybe father's Rectal;Carcinoma needs IHC and/or his MSH2 sequencing needs looking at in case he is a low level de novo mosaic himself.; Father: Rectal;Carcinoma 53y [MSI-H, BRAF wt; MSH2-, MSH6-, MLH1+, PMS2+] M - - - - 0 - - cancer, gastric, cancer, rectal gastric;carcinoma 50y, rectal;carcinoma; BRAF V600E negative - MSH2 1 1 Ian Frayling
00201514 - - ?Zakalik & Dohany F - - - - 0 - - cancer, rectal rectal;carcinoma + 2-5 colorectal;AN - MSH2 1 1 Ian Frayling
00201518 - C: in Win (2011) Father Skin;ns 67y, PR;Carcinoma 76y M - - - - 0 - - cancer, cancer, rectal, CRC colon, not otherwise specified;carcinoma, Rectal;Carcinoma 37y,, UR;Ca 47y - MSH2 1 1 Ian Frayling
00201521 - Colas - M - - - - 0 - - cancer, rectal rectal;carcinoma - MSH2 1 1 Ian Frayling
00201843 - PubMed: Cohen 2016 - - - - - - 0 - - cancer, rectal - - MSH2, MUTYH 2 1 InSiGHT - John-Paul Plazzer
00201844 - - individual with rectal cancer aged 46 where IHC was normal a few years ago.; Her mother had rectal cancer aged 60 and her brother rectal cancer aged 72. F - (United Kingdom (Great Britain)) - - 0 - - cancer, rectal Previously IHC was normal. - MSH2 1 1 InSiGHT - John-Paul Plazzer
00201859 - - Male previously diagnosed with a bowel tumour in mid 40s with a rectal adenocarcinoma, which showed evidence of loss of two particular proteins on chemical analysis called MSH2 and MSH6 and showed evidence of genetic instability called microsatellite instability. Supposed unrelated family to other submitted patient with this variant.; father was diagnosed with a bowel, bladder and renal pelvis transitional cell tumours at different ages at the age of 65, 73, 73 and 65 (respectively for bladder, bladder, colorectal and renal tumours). His paternal grandfather was unaffected but his paternal grandfather’s brother was affected with colorectal cancer in his 60s. M - (United Kingdom (Great Britain)) - - 0 - - cancer, rectal, CRC diagnosed with a bowel tumour in mid 40s - MSH6 1 1 Joanne Field
00201864 - PubMed: Ziada-Bouchaar 2016 - F - - - - 0 - - cancer, rectal - - MLH1 1 1 Ziada-Bouchaar Hadia
00201865 - PubMed: Ziada-Bouchaar 2016 - F - Algeria Algerian - 0 - - cancer, rectal - - MLH1 1 1 Ziada-Bouchaar Hadia
00202336 - PubMed: Duraturo 2015 mother with stomach; cancer diagnosed at age 75; MUT+; daughter and son with; adenocarcinoma and adenoma; with severe dysplasia of the; ascending colon diagnosed; at age 32 and 35, respectively; (both are MUT+). - - Italy - - 0 - - cancer, rectal Rectal cancer diagnosed at; age 44; BRAF V600E negative - MLH1 1 1 InSiGHT - John-Paul Plazzer
00202341 - PubMed: Duraturo 2015 maternal uncle; stomach cancer - - Italy - - 0 - - ?, cancer, rectal ; BRAF V600E negative, polyp on the; ascending colon - MSH2 1 1 InSiGHT - John-Paul Plazzer
00202510 - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - 0 - - cancer, rectal CRC; stage A; MSS; family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 28y; 21y-CRC rectum; diagnosis: colorectal symptoms; 36 polyps MUTYH MUTYH 2 1 Carli Tops
00202521 - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - 0 - - cancer, rectal CRC rectum stage B; family history AD;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 58y; 42y-CRC rectum; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00202523 - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Morocco - - 0 - - cancer, rectal rectumca stage B; MSS; family history AD, parents consanguineous; Cervix ca. age 27, Breast cancer (T1N0M0) age 49;; 42y-CRC rectum; diagnosis: colorectal symptoms; 10-50 polyps MUTYH MUTYH 2 1 Carli Tops
00202548 - PubMed: Nielsen 2005 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - 0 - - cancer, rectal 30 polyps; CRC rectum; stage A; Age CRC 42; family history Sporadic;; diagnosis: colorectal symptoms; 30 polyps MUTYH MUTYH 1 1 Carli Tops
00203086 - PubMed: Kim 2007 T3N0; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants M - Korea, South (Republic) - - 0 - - cancer, rectal No extracolonic manifestations; two siblings (43; 41 years) colonoscopic polypectomy for colorectal polyps; No upper gastrointestinal polyps; TPC with IPAA; CRC Rectum; 36 polyps; adenomas pancolonic MUTYH MUTYH 2 1 Astrid Out
00203090 - PubMed: Kim 2007 T2N0; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants M - Korea, South (Republic) - - 0 - - cancer, rectal CHRPE; TPC with IPAA; CRC Rectum; 350 polyps MUTYH MUTYH 2 1 Astrid Out
00203249 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - 0 - - cancer, rectal - MUTYH MUTYH 2 1 Mette Gaustadnes
00203274 - Molecular Medicine, AUH, Skejby, Aarhus, DK frequency:1/230 alleles from Danish CRC/polyposis patients F - Denmark - - 0 - - cancer, rectal - MUTYH MUTYH 1 1 Mette Gaustadnes
00203808 - PubMed: Plotz 2012 - F - Germany - - 0 - - cancer, rectal polyposis; 38y-CRC rectum; 30 polyps MUTYH MUTYH 2 1 Guido Plotz
00204110 - PubMed: Kiyozumi 2018 patient met the revised Bethesda guidelines M - Japan Japanese - 0 - - cancer, colon, cancer, rectal , Pathology of the ascending colon cancer showed moderate to poor differentiation within the mucosa (H&E, ×100) - MLH1 1 1 InSiGHT - John-Paul Plazzer
00206835 111046 - - F ? Finland - - 0 - - cancer, rectal, cancer, endometrial , Endometrial cancer at age 59, rectum cancer at age 67. Tissue Immunohistochemistry was suspicious for HNPCC, however, the result was nonspecific. Endometrial, breast and colonic cancer in the family MLH1, MSH2, MSH6, PMS2 MSH6 2 1 Andreas Laner
00208603 Fam8 - - - - - - - 0 - - cancer, rectal - - APCDD1, CEP192, LAMA3, PIEZO2, POTEC, ROCK1, VAPA 10 2 Xiang Jiao
00208611 Fam918 - - - - - - - 0 - - cancer, rectal - - APCDD1, CEP192, NPC1, PIEZO2, POTEC 9 2 Xiang Jiao
00208612 Fam1213 - - - - - - - 0 - - cancer, rectal - - CEP192, CTAGE1, LAMA3, MC5R, PIEZO2, POTEC 9 1 Xiang Jiao
00235327 Patient Story 2 PubMed: Patel et al. 2018 - M - United States - - 0 - - cancer, rectal - - MSH6 2 1 InSiGHT - John-Paul Plazzer
00245617 - - - F - Spain - - 0 - - cancer, rectal, cancer, skin, CRC - MSH2, MSH6 MSH2 1 1 Gabriel Capella
00245627 - PubMed: Menéndez et al. 2010 - M - Spain - - 0 - - cancer, cancer, rectal, CRC , appendix malignant MLH1, MSH2 MSH2 2 1 Gabriel Capella
00245630 - PubMed: Menéndez et al. 2010 - F - Spain - - 0 - - cancer, breast, cancer, rectal - MSH2 MSH2 2 1 Gabriel Capella
00247311 - - no family history F - Zimbabwe African - 0 - - cancer, rectal - - MSH2 1 1 InSiGHT - John-Paul Plazzer
00247312 - - Vague family history of gastrointestinal cancers on maternal side M - Zimbabwe African - 0 - - cancer, rectal - - MLH1 1 1 InSiGHT - John-Paul Plazzer
00247314 - - Breast cancer, lung cancer, and possibly ampullary in 1st degree relatives F - Zimbabwe African - 0 - - cancer, rectal Malignant neoplasm of the recto-sigmoid junction; Patient had prior breast cancer [HP:0003002] - MSH6 1 1 InSiGHT - John-Paul Plazzer
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