Disease #00513

Official abbreviation HNPCC-1 (Lynch)
Name cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)
OMIM ID 120435
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 7 genes EPCAM, GALNT12, MLH1, MLH3, MSH2, MSH6, PMS2
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00038793 - - 2 Gen;2 cases CRC 46,34 F - (United Kingdom (Great Britain)) - - 0 - - HNPCC-1 (Lynch) Caecal Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00046950 - - Grantham assessment - highly likely deleterious, In silico prediction - disease causing; Family history- son CRC 31 (in NZ- segregation not done yet), another son ascending colon and rectal adenoma, and sigmoid hyperplastic polyp at 34, father CRC 61 F - ? (unknown) - - 0 - - HNPCC-1 (Lynch) Endometrial (53y) MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00052040 - - CRC aged 46 in proband. No additional family testing that we're aware of. - - - - - 0 - - HNPCC-1 (Lynch) - PMS2 PMS2 1 1 Ian Berry
00052041 - - CRC aged 17 and again at 24; histological profile consistent with CMMRD. Patient heterozygous for c.137G>T (class 4) and ex11-12 duplication. Phase could not be confirmed in parents. - - - - - 0 - - HNPCC-1 (Lynch) - - - 0 1 Ian Berry
00052042 - - CRC aged 17 and again at 24; histological profile consistent with CMMRD. Patient heterozygous for c.137G>T (class 4) and ex11-12 duplication. Phase could not be confirmed in parents. - - - - - 0 - - HNPCC-1 (Lynch) - PMS2 PMS2 1 1 Ian Berry
00052043 - - Patient had CRC @48yo. Father had CRC @58yo, isolated PMS2 loss on tumour. Duplication could not be tested as deceased. - - - - - 0 - - HNPCC-1 (Lynch) - PMS2 PMS2 1 1 Ian Berry
00057225 - PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994 4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers F - - - - 0 - - HNPCC-1 (Lynch) HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y; family history A+ MSH2, PMS1 PMS1 2 2 Johan den Dunnen
00057226 - PubMed: Liu 2001 nephew of CW (III4) M - - - - 0 - - HNPCC-1 (Lynch) colorectal cancer 42y MSH2 PMS1 1 1 Johan den Dunnen
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