Disease #00016

Official abbreviation -
Name neoplasia, colorectal, early onset
OMIM ID -
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues -
Disease features -
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
Legend  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00002670 - F DE Caucasian familial cases of colon (father, grandmother) and endometrial cancer (2 aunts); InSiGHT LOVDv2 ID:1008388; This data has been transferred from InSiGHT LOVDv2 database. - B+; - neoplasia, colorectal, early onset Additional info: colon (49); intraepithelial neoplasia MSH6 MSH6 1 1 Michael Kutsche
00003604 - F Germany - - - father 65 y colon-ca, 68 y small intestine-ca, 70 y gastric-ca IHC loss of MSH2 + MSH6, MSI-H cancer, bladder, neoplasia, colorectal, early onset 58 y colon C coecal + colon C right flexure, 60 y endometrial C MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003605 - M Germany - - - no information - neoplasia, colorectal, early onset 39 y colon C ascendens MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003607 - M Germany - - - no information - neoplasia, colorectal, early onset 40 y colon-ca ascendens + colon-ca appendix MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003608 - M Germany - - - no information - Lynch Syndrome, neoplasia, colorectal, early onset 45 y colon-ca right flexure MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003609 - M Germany - - - no information - Lynch Syndrome, neoplasia, colorectal, early onset colon-ca 47y MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003610 - M Germany - - - mother 59 + 65 y colon-ca, maternal grandmother 65 y cervix-ca, 91 y colon-ca IHC loss of MSH2 + MSH6, MSI-H Lynch Syndrome, neoplasia, colorectal, early onset 34 y colon-ca sigma, 53 y colon-ca MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003653 - M Italy Caucasian Tested for CDH1, CHECK2, PTEN, SMAD4, BMPR1A, TP53, by means of NGS-MiSeq Illumina. All resulted negative - Maternal grandmother with gastric tumor at 70y cousin dies at 30y for pancreatic cancer Maternal uncle with prostatic tumor, diagnosis before 60y Maternal aunt with lung cancer, diagnosis before 60y infiltrative rectal adenocarcinoma neoplasia, colorectal, early onset - APC, MLH1, MSH2, MSH6, MUTYH, PMS2, STK11 MLH1 1 1 Giulia Martina Cavestro, M.D., Ph.D.
00003775 - M UK - - - father had crc at 35 - neoplasia, colorectal, early onset - MLH1 MLH1 1 1 Demetra Georgiou
00028512 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >20 polyps, Proctocolectomy; 2 synchronous adenocarcinomas APC APC 1 1 Michele Ciavarella
00028513 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >50 polyps, Proctocolectomy; 2 synchronous adenocarcinomas APC APC 1 1 Michele Ciavarella
00028654 - F Italy - - Yes Amsterdam no, Bethesda yes Family History, IHC, MSI cancer, endometrial, neoplasia, colorectal, early onset - MLH1, MSH2, MSH6 MSH2 2 1 Alessandra Viel
Legend