Disease #00011

Official abbreviation -
Name cancer, rectal
OMIM ID -
Individuals reported having this disease 55
Phenotype entries for this disease 52
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues rectum
Disease features -
Remarks -


Individuals

55 entries on 1 page. Showing entries 1 - 55.
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Pedigree information available     

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Disease     

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Genes screened

Variants in genes

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00002569 - F (ES) - InSiGHT LOVDv2 ID:1017259; This data has been transferred from InSiGHT LOVDv2 database. - - Colorectal symptoms cancer, endometrial, cancer, rectal , Additional info: yes; Pedigree available: yes; MSH6 MSH6 1 1 sira moreno
00002601 - M - - InSiGHT LOVDv2 ID:1016033; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - cancer, rectal Additional info: Rectum adenocarcinoma; MSH6 MSH6 1 1 InSiGHT group
00002878 - M ES - InSiGHT LOVDv2 ID:1017145; This data has been transferred from InSiGHT LOVDv2 database. - B+; - cancer, rectal - MSH6 MSH6 1 1 José Luis Soto
00003613 - F United Kingdom - - - 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. - cancer, rectal 15y girl with a rectal cancer and a tubulovillous adenoma in the sigmoid colon. MLH1, MSH6 MLH1, MSH6 3 1 Ian Frayling
00003773 - M Finland - - - yes family history and IHC cancer, rectal - MSH2, MSH6 MSH2 1 1 Carli Tops
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
00016284 - ? - - InSiGHT LOVDv2 ID:146; - - - cancer, endometrial, cancer, rectal cancer, endometrial (42), cancer, rectal (47) MLH1 MLH1 2 1 Michael Woods
00019227 - F - - InSiGHT LOVDv2 ID:1005294; - - - cancer, rectal - MLH1 MLH1 1 1 Michael Woods
00021287 - F - - InSiGHT LOVDv2 ID:1007523; - - - cancer, rectal - MLH1 MLH1 1 1 Michael Woods
00022033 - M CN - InSiGHT LOVDv2 ID:1012026; - - - cancer, rectal - MLH1 MLH1 1 1 Peng Nan
00022240 - M - - InSiGHT LOVDv2 ID:1013541; - Bethesda - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 InSiGHT group
00022249 - M - - InSiGHT LOVDv2 ID:1013550; - AM I - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 InSiGHT group
00022337 - M - - InSiGHT LOVDv2 ID:1013843; - Am II - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 InSiGHT group
00022387 - M - - InSiGHT LOVDv2 ID:1016026; - Am II - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 InSiGHT group
00022403 - F - - InSiGHT LOVDv2 ID:1016066; - Bethesda - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 InSiGHT group
00022407 - F - - InSiGHT LOVDv2 ID:1016072; - Bethesda - cancer, rectal Malignant neoplasm of rectum (C20) MLH1 MLH1 1 1 InSiGHT group
00022601 - - - - InSiGHT LOVDv2 ID:1016602; - - - CRC, cancer, rectal Colon48, Rectum41 MLH1 MLH1 1 1 InSiGHT group
00022617 - - - - InSiGHT LOVDv2 ID:1016655; - - - cancer, rectal Rectal tumour: moderately well differentiated infiltrating adenoca MLH1 MLH1 1 1 InSiGHT group
00022678 - F - - Last known age healthy/unknown disease: 47;InSiGHT LOVDv2 ID:1016774; - AM I - cancer, rectal Malignant neoplasm of rectum (C020). Last known age: 47y MLH1 MLH1 1 1 InSiGHT group
00022703 - M - - InSiGHT LOVDv2 ID:1016819; - Bethesda - cancer, rectal Rectum adenocarcinoma MLH1 MLH1 1 1 InSiGHT group
00023282 - F UK - InSiGHT LOVDv2 ID:1017214; Yes B+ - cancer, rectal Rectum MSH2 MSH2 1 1 Ian Frayling
00024125 - M UK - 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; Yes - - cancer, rectal Rectum (39y) BRAF-wt MSH2 MSH2 1 1 Ian Frayling
00024917 - F - - InSiGHT LOVDv2 ID:1016087; - Bethesda - cancer, rectal Malignant neoplasm of rectum MSH2 MSH2 1 1 InSiGHT group
00025057 - M - - InSiGHT LOVDv2 ID:1016044; - Bethesda - cancer, rectal - MSH2 MSH2 1 1 InSiGHT group
00025334 zhqnp F CN - InSiGHT LOVDv2 ID:1012031; - B- - cancer, rectal - MSH2 MSH2 1 1 Peng Nan
00025335 zhqnp F CN - InSiGHT LOVDv2 ID:1012032; - B- - cancer, rectal - MSH2 MSH2 1 1 Peng Nan
00025339 - M - - InSiGHT LOVDv2 ID:1016045; - Bethesda - cancer, rectal - MSH2 MSH2 1 1 InSiGHT group
00025350 - F - - InSiGHT LOVDv2 ID:1013851; - Am I - cancer, rectal - MSH2 MSH2 1 1 InSiGHT group
00025954 - M - - InSiGHT LOVDv2 ID:1013870; - Bethesda III - cancer, rectal - MSH2 MSH2 1 1 InSiGHT group
00028550 - M USA Caucasian - - 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 - cancer, rectal - MSH2, MSH6 MSH2, MSH6 2 1 John Paul Plazzer
00033724 Stulp et al 2006 M - - 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. - Nil Referred to Genetics by: Surgeon; Referral reason: Gastroenterologist cancer, rectal rectal;carcinoma - MLH1 1 1 Ian Frayling
00033731 Fry, Palmer-Smith, Murray, Frayling, Hodgson, Tripathi M - - 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+] Referred to Genetics by: Surgeon; Referral reason: Self-referral to surgeon after reading BMJ article cancer, gastric, cancer, rectal gastric;carcinoma 50y, rectal;carcinoma - MSH2 1 1 Ian Frayling
00033736 - F - - ?Zakalik & Dohany - - - cancer, rectal rectal;carcinoma + 2-5 colorectal;AN - MSH2 1 1 Ian Frayling
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
00033743 Colas M - - - - - Referred to Genetics by: Surgeon; cancer, rectal rectal;carcinoma - MSH2 1 1 Ian Frayling
00033771 - ? CA - - - Bethesda positive - cancer, rectal - GALNT12 GALNT12 1 1 Michael Woods
00033772 - F CA - - - Bethesda positive - cancer, rectal Skin cancer (82y) GALNT12 GALNT12 1 1 Michael Woods
00033779 - F CA - DNA was not available from two CRC affected sisters of the proband, although a son of one of them had CRC at age 57 years but did not carry the variant. - Bethesda positive - cancer, rectal 2 TAs (35y), 1 TA (60y), 3 TAs (61y), 3 TAs (62y) GALNT12 GALNT12 1 1 Michael Woods
00034100 Cohen et al. 2016 - - - - - - - cancer, rectal - - MSH2, MUTYH 2 1 John Paul Plazzer
00034101 - F (UK) - 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. - cancer, rectal Previously IHC was normal. - MSH2 1 1 John Paul Plazzer
00034116 - M (UK) - 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. - CRC, cancer, rectal diagnosed with a bowel tumour in mid 40s - MSH6 1 1 Joanne Field
00034121 Ziada-Bouchaar et al. 2016 F - - - - - - cancer, rectal - - MLH1 1 1 Ziada-Bouchaar Hadia
00034122 Ziada-Bouchaar et al. 2016 F - Algerian - - - - cancer, rectal - - MLH1 1 1 Ziada-Bouchaar Hadia
00034597 Duraturo et al. 2015 - Italy - - - Bethesda; 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+). - cancer, rectal Rectal cancer diagnosed at age 44 - MLH1 1 1 John Paul Plazzer
00034602 Duraturo et al. 2015 - Italy - - - Bethesda; maternal uncle stomach cancer - cancer, rectal, polyp , polyp on the ascending colon - MSH2 1 1 John Paul Plazzer
00034771 Nielsen 2005; Nielsen 2009a; Vogt 2009 F Netherlands - Among 170 APC negative Dutch FAP patients - - - 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
00034782 Nielsen 2005; Nielsen 2007; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - 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
00034784 Nielsen 2005; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F Morocco - Among 170 APC negative Dutch FAP patients - - - 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
00034809 Nielsen 2005 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - 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
00035347 Kim 2007 M Korea, South (Republic) - 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 - - - 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
00035351 Kim 2007 M Korea, South (Republic) - 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 - - - cancer, rectal CHRPE; TPC with IPAA; CRC Rectum; 350 polyps MUTYH MUTYH 2 1 Astrid Out
00035510 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - - - - - cancer, rectal - MUTYH MUTYH 2 1 Mette Gaustadnes
00035535 Molecular Medicine, AUH, Skejby, Aarhus, DK F Denmark - frequency:1/230 alleles from Danish CRC/polyposis patients - - - cancer, rectal - MUTYH MUTYH 1 1 Mette Gaustadnes
00036069 Plotz et al. 2012 F Germany - - - - - cancer, rectal polyposis; 38y-CRC rectum; 30 polyps MUTYH MUTYH 2 1 Guido Plotz
00036430 Kiyozumi et al. 2018 M Japan Japanese - - patient met the revised Bethesda guidelines - cancer, colon, cancer, rectal , Pathology of the ascending colon cancer showed moderate to poor differentiation within the mucosa (H&E, ×100) - MLH1 1 1 John Paul Plazzer
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