Disease #00513 (HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)), OMIM:120435)

Official abbreviation HNPCC1 (Lynch)
Name cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)
OMIM ID 120435
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 13
Phenotype entries for this disease 11
Associated with 7 genes EPCAM, GALNT12, MLH1, MLH3, MSH2, MSH6, PMS2
Associated tissues -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00038793 - - 2 Gen;2 cases CRC 46,34 F - (United Kingdom (Great Britain)) - - 0 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (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 - - HNPCC1 (Lynch) colorectal cancer 42y MSH2 PMS1 1 1 Johan den Dunnen
00326097 MSI-DK-015 - - M ? India - ? - - - HNPCC1 (Lynch) HP:0002672 - MLH1 1 1 Harsh Sheth
00326098 MSI-ASPK-018 - - M ? India - ? - - - HNPCC1 (Lynch) HP:0002672 - MLH1 1 1 Harsh Sheth
00331312 - - - - - - - - - - - HNPCC1 (Lynch) - MSH2 MSH2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00384619 184879 - - M - Germany - - 0 - - HNPCC1 (Lynch) - MSH2 MSH2 1 1 Andreas Laner
00403039 - - - M no New Zealand European - - - - HNPCC1 (Lynch) Transverse colon cancer diagnosed at age 65, 10 tubular adenomas with low grade dysplasia and 10 serrated polyps APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, SMAD4 MLH1 1 1 Sarah Collis
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