Disease #00033

Official abbreviation -
Name neoplasia, colorectal
OMIM ID -
Individuals reported having this disease 7
Phenotype entries for this disease 5
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     

Reference     

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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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Panel size     

Owner     
00003774 FCC4044 F India Indian - - none noted - neoplasia, colorectal two tubular adenomas and colon cancer diagnosis MLH1 MLH1 1 1 Demetra Georgiou
00003928 - - USA - - Yes Proband fulfills Bethesda guidelines Family history neoplasia, colorectal - MLH1, MSH2 MLH1 1 1 Bryony A Thompson
00028521 fcc2630 M - - - Yes - - neoplasia, colorectal - MLH1 MLH1 1 1 Demetra Georgiou
00028540 - F SPAIN CAUCASIAN - Yes - - neoplasia, colorectal - MSH6 MSH6 1 1 sira moreno
00028551 - F Netherlands - - - Family: her son 1 adenoma at 40yrs; her mother sigmoidcarc; mother had many sibs (>10) , and several of them had cancer at a relative young age. None of them were tested for the variant. - polyposis, neoplasia, colorectal 3xCRC in situ, >50 small polyps (serrated, adenomatous and hyperplastic). 1 CRC tested MSI H, with MLH1 methylation. Others not tested. Multiple polyps (>50 some sessile, some adenoma,some hyperplastic, some serrated ). APC, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, POLD1, STK11 MLH1 1 1 Carli Tops
00028560 - - SPAIN CAUCASIAN - Yes no family history IHC neoplasia, colorectal - PMS2 PMS2 1 1 sira moreno
00028657 FCC1168 M - Caucasian - Yes daughter has tubular adenoma (loss MLH1/PMS2, no MLH1 methylation) - neoplasia, colorectal synchronous rectal and transverse colon carcinomas MLH1 MLH1 1 1 Demetra Georgiou
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