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

Official abbreviation HNPCC1
Name cancer, colorectal, nonpolyposis, hereditary, type 1
OMIM ID 120435
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 16
Phenotype entries for this disease 13
Associated with 1 gene MSH2
Associated tissues -
Disease features -
Remarks -
Date created 2014-08-22 11:31:54 +02:00 (CEST)
Date last edited 2025-07-24 09:01:26 +02:00 (CEST)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00038793 - - 2 Gen;2 cases CRC 46,34 F - (United Kingdom (Great Britain)) - - - - - HNPCC1 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 - - - - - - - HNPCC1 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. - - - - - - - - HNPCC1 - 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. - - - - - - - - HNPCC1 - - - - 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. - - - - - - - - HNPCC1 - 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. - - - - - - - - HNPCC1 - 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 - - - - - - - HNPCC1 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 - - - - - - - HNPCC1 colorectal cancer 42y MSH2 PMS1 1 1 Johan den Dunnen
00326097 MSI-DK-015 - - M ? India - ? - - - HNPCC1 HP:0002672 - MLH1 1 1 Harsh Sheth
00326098 MSI-ASPK-018 - - M ? India - ? - - - HNPCC1 HP:0002672 - MLH1 1 1 Harsh Sheth
00331312 - - - - - - - - - - - HNPCC1 - MSH2 MSH2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00384619 184879 - - M - Germany - - - - - HNPCC1 - MSH2 MSH2 1 1 Andreas Laner
00403039 - - - M no New Zealand European - - - - HNPCC1 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
00417005 L1502 PubMed: Boumehdi 2022 2-generation Family, 4 affected (2F, 2M) M no Algeria - - - - - HNPCC1 - MLH1 MLH1 1 4 Farid Cherbal
00436779 - - - M - - - - - - - HNPCC1 - MLH1 MLH1 1 1 Cristiano Simone
00466065 D-9806 - - M ? India - - - - - HNPCC1 stomach cancer (HP:0012126) - MSH2 1 1 Harsh Sheth
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