Disease #05464

Official abbreviation HNPCC
Name cancer, colorectal, nonpolyposis, hereditary (HNPCC, Lynch syndrome)
OMIM ID -
Individuals reported having this disease 1455
Phenotype entries for this disease 509
Associated with 7 genes EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2
Associated tissues -
Disease features -
Remarks -


Individuals

1455 entries on 15 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00036145 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, CRC at the age of 57 and 66, prostate-cancer at the age of 57, duodenal-cancerat the age of 66, CRC (brother, father and sister) MLH1 MLH1 1 1 Andreas Laner
00036148 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MLH1 MLH1 1 1 Andreas Laner
00036149 - - - - - Germany - - 0 - - HNPCC HNPCC MLH1 MLH1 1 1 Andreas Laner
00036150 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MLH1 MLH1 1 1 Andreas Laner
00036151 - - - - - Germany - - 0 - - HNPCC HNPCC MLH1 MLH1 1 1 Andreas Laner
00036152 - - - - - Germany - - 0 - - HNPCC suspected HNPCC syndrome, rectal adeno-Ca at the age of 30, pankreas-Ca at the age of 47, mother: at the age of 35 uncertain cancer, died at the age of 62 (pancreas-Ca) MLH1 MLH1 1 1 Andreas Laner
00036159 - - - - - Germany - - 0 - - HNPCC HNPCC, colon-ca at the age of 17, family history: positive MLH1 MLH1 1 1 Andreas Laner
00036223 - - - - - Germany - - 0 - - HNPCC familiar HNPCC MSH2 MSH2 1 1 Andreas Laner
00036226 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036227 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036228 - - - - - Germany - - 0 - - HNPCC HNPCC-syndrome MSH2 MSH2 1 1 Andreas Laner
00036229 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036235 - - - - - Germany - - 0 - - HNPCC HNPCC, right sided Hemikolektomie-Präparat with three Adeno-Ca´s (Bauhin´sche Klappe, Zökallpol, siegelringzelliges Karzinom),lymph nodes with mikro-Metastases MSH2 MSH2 1 1 Andreas Laner
00036238 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036239 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036247 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036248 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, Endometrium-ca at the age of 42, Schwester also affected, loss of MSH6 (sister); other patient: patient healthy, in the family on the maternal side: HNPCC syndrome with MSH2-mutation MSH2 MSH2 1 1 Andreas Laner
00036250 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH2 MSH2 1 1 Andreas Laner
00036252 - - - - - Germany - - 0 - - HNPCC sister of index: suspected HNPCC, intestinal cancer at the age of 40, loss of MSH2, MSH6 and PMS2 MSH6 MSH6 1 1 Andreas Laner
00036256 - - - - - Germany - - 0 - - HNPCC Tubulovillöses Adenom with high-grade IEN; HNPCC MSH6 MSH6 1 1 Andreas Laner
00036263 - - - - - Germany - - 0 - - HNPCC suspected HNPCC / with Endometriumkarzinom MSH6 MSH6 1 1 Andreas Laner
00036266 - - - - - Germany - - 0 - - HNPCC suspected HNPCC MSH6 MSH6 1 1 Andreas Laner
00036269 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, CRC at the age of 47 MSH6 MSH6 1 1 Andreas Laner
00036527 - - - - - Germany - - 0 - - HNPCC suspected HNPCC PMS2 PMS2 1 1 Andreas Laner
00036529 - - - - - Germany - - 0 - - HNPCC suspected HNPCC PMS2 PMS2 1 1 Andreas Laner
00036531 - - - - - Germany - - 0 - - HNPCC suspected HNPCC PMS2 PMS2 1 1 Andreas Laner
00036532 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, adeno cancer (colon) PMS2 PMS2 1 1 Andreas Laner
00036534 - - - - - Germany - - 0 - - HNPCC suspected HNPCC PMS2 PMS2 1 1 Andreas Laner
00036535 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, ablation of 2 adenoma PMS2 PMS2 1 1 Andreas Laner
00036536 - - - - - Germany - - 0 - - HNPCC suspected HNPCC syndrome PMS2 PMS2 1 1 Andreas Laner
00050061 III:2 PubMed: Nieminen 2011, Journal: Nieminen 2011 - M - (Finland) (European) - 0 - - HNPCC FCCX BMPR1A BMPR1A 1 14 LOVD-team, but with Curator vacancy
00177022 - - - F no France - - 0 - - HNPCC endometrial cancer at age 45 et colon cancer at age 60 MSH2 MSH2 1 1 Florence Coulet
00183379 - - - - - Uruguay - - 0 - - HNPCC - EPCAM EPCAM 1 1 Mev Dominguez-Valentin
00183382 27601186-Pat PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - HNPCC - EPCAM EPCAM 1 1 Kristina Lagerstedt Robinson
00183530 - - - - - - - - 0 - - HNPCC - MSH2 MSH2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00183539 - - - M - Germany - - 0 - - HNPCC MSI-H; 47y colon C; mother 50y endometrial C, 60y skin C, 70y colon C; maternal cousin 43y cervix C; maternal half-brother 39y seminome; maternal niece 17y lymphoma MSH2, MSH3, MSH6 MSH3, MSH6 2 1 Elke Holinski-Feder
00183577 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183579 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183581 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183582 - - - - - - - - 0 - - HNPCC Bethesda positive GALNT12 GALNT12 1 1 Laura Valle
00183593 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183595 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183597 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183598 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 1 1 Laura Valle
00183603 - - - - - - - - 0 - - HNPCC - GALNT12 GALNT12 2 1 Laura Valle
00186880 - - 2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II) M - - - - 0 - - HNPCC Adenocarcinoma MLH1 MLH1 1 1 Ruth Armstrong
00186881 - - 2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II) F - - - - 0 - - HNPCC Bowel Cancer; Breast-63y; Colon 66y MLH1, MSH2, MSH6 MLH1 1 1 Ruth Armstrong
00186882 - - 2 gen; 1xEndometrial 61;1 case CRC@64 F - - - - 0 - - HNPCC Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00186883 - - No FH of CRC F - - - - 0 - - HNPCC Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal MSH6 MSH6 1 1 Ruth Armstrong
00186884 - - 3 gen & 6 cases of CRC( Amsterdam II) M - - - - 0 - - HNPCC Adenocarcinoma MSH6 MSH6 2 1 Ruth Armstrong
00186885 - - 2 Gen(not sucessive); 1x CRC@51;1xStomach Ca@53 M - - - - 0 - - HNPCC Sigmoid mucinous adenocarcinoma, 3xTVA, MSH2 protein expression: weak MSH2, MSH6 MSH2, MSH6 2 1 Ruth Armstrong
00186886 - - 2 Gen;2 cases CRC 58,42;2xbowel polyps. F - - - - 0 - - HNPCC Transverse Colon adenocarcinoma, >=35 pol MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00186887 - - 2 Gen; 2 cases CRC 55,48;1 case endometrial 71 (Amsterdam II) F - - - - 0 - - HNPCC Rectal Adenocarcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00186888 - - 2 Gen ;2casesCRC 18,66 F - - - - 0 - - HNPCC Ascending colon adenocarcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00186889 - - Mother caecal cancer (untested) at 34y F - United Kingdom (Great Britain) - - 0 - - HNPCC Caecal Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186890 - - 2 Gen; 3 Cases CRC 47,75,76 (Amsterdam Criteria II) F - - - - 0 - - HNPCC Ascending Colon adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186891 - - 1 Case , sebaceous adenoma F - - - - 0 - - HNPCC Sebaceous adenoma, 1 dysplastic polyp MSH2 MSH2 1 1 Ruth Armstrong
00186892 - - 2 Gen;?2 sides of family?;3 Cases CRC 39,54,89; F - - - - 0 - - HNPCC Sigmoid Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186893 - - 4 Gen; 6 cases CRC 39,42,35,58,42,78, 1 case Womb Ca 58, 1 Case Stomach Ca 65 (Amsterdam II) M - - - - 0 - - HNPCC Ascending Colon Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186895 - - 2 Gen;3 Cases CRC 40,45,70 (Amsterdam II Criteria) M - - - - 0 - - HNPCC Rectal Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186896 - - 3 Gen; 3 Case CRC 54,30,?60's?; 1 Case Endometriod Ca 46; (Amsterdam II) F - - - - 0 - - HNPCC Endometriod Carcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186897 - - 3 Gen;4 case CRC 77,75,39,60; 1 case stomach Ca 63 (Amsterdam II) F - - - - 0 - - HNPCC Bowel Cancer MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186899 - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) F - - - - 0 - - HNPCC Colorectal Carcinoma-30y;Endometrial Ca-51y MLH1, MSH2 MLH1 2 1 Ruth Armstrong
00186900 - - 2 Gen; 4 Cases CRC 50,62,62,68; 1 Case breast Ca 30 F - - - - 0 - - HNPCC Rectal Carcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186901 - - Tumour studies done in sister (deceased); 3 Gen; 3 Cases CRC 31,55,?70's? (Amsterdam II) M - - - - 0 - - HNPCC Sigmoid mucinous adenocarcinoma MLH1, MSH2 MSH2 1 1 Ruth Armstrong
00186902 - - 4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II) F - - - - 0 - - HNPCC CRC MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00186903 - - 4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II) F - - - - 0 - - HNPCC 2 separate CRC-63y,64y MLH1 MLH1 1 1 Ruth Armstrong
00186904 - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) F - - - - 0 - - HNPCC Right Colon Adenocarcinoma MLH1 MLH1 1 1 Ruth Armstrong
00186905 - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) F - - - - 0 - - HNPCC No tumour/not symptomatic MLH1 MLH1 1 1 Ruth Armstrong
00186906 - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) F - - - - 0 - - HNPCC Colorectal Carcinoma MLH1 MLH1 1 1 Ruth Armstrong
00186907 - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) F - - - - 0 - - HNPCC No tumour/not symptomatic - MLH1 1 1 Ruth Armstrong
00186908 - - mother with melanoma @63 yr M - - - - 0 - - HNPCC Sebaceous tumour MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00186909 - PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994 4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers F - - - - 0 - - HNPCC HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y MSH2 MSH2 1 2 InSiGHT - John-Paul Plazzer
00186910 - PubMed: Liu 2001 nephew of CW (III4) M - - - - 0 - - HNPCC colorectal cancer 42y MSH2 MSH2 1 1 Carli Tops
00186911 - - - F - - - - 0 pedigree - CRC, HNPCC CRC; Unspecified Gynecological Cancer. 21y and 50y; MLH1, MSH2 MLH1 1 1 InSiGHT - John-Paul Plazzer
00186912 - InSiGHT Variant Interpretation Committee April 2016 - M - - - - 0 pedigree - CRC, HNPCC crc MLH1, MSH2, MSH6 MLH1 1 1 InSiGHT - John-Paul Plazzer
00186923 - PubMed: Chika 2015 Gan To Kagaku Ryoho. 2015 Nov;42(12):2211-4.; [A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation].; [Article in Japanese]; From abstract: He had family history of endometrial cancer and gastric cancer(mother), and bladder cancer(father).; The Patient met revised Bethesda guidelines.; The same MSH6 variant was detected in younger brother. M - Japan - - 0 - - HNPCC Sigmoid Cancer MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00186924 - - He has 3 sisters and a brother; one sister had a choroidal melanoma of the eye at 50.; ; He reports a paternal aunt with breast cancer at an older age.; ; His mother had a melanoma at 80y, he believes her brother may have had a prostate cancer later in life, and a maternal aunt with ovarian serous cystadenocarcinoma in her 70's. M - Australia - - 0 - - HNPCC moderately differentiated adenocarcinoma of the rectum at age 50 MLH1, MSH2, MSH6, PMS2 MSH6 1 1 InSiGHT - John-Paul Plazzer
00187023 - - 45 y recurrent 1-2 large tub-vill. Adenomas, no IHC possible.; A+ Family: mother 50 y CC, 60 y Rezidiv dedeased, maternal half-uncle 30-40 y CC verstorben, maternal grandmother 60 y CC - - - - - 0 - - ?, HNPCC - MLH1 MLH1 1 1 Elke Holinski-Feder
00187024 - - no MSA, IHC MLH1 pos., MSH2 pos. MSH6 pos., PMS2 neg. ; 46 y CC. asc. T3 N1; father 38 y gastic Ca, 43 y deceased in accident, paternal uncle died at 70 y Pankreatic Ca - - - - - 0 - - HNPCC - MLH1 MLH1 1 1 Elke Holinski-Feder
00187025 - - 76 y Urothelca, MSS, IHC positive in MLH1, MSH2, MLH6, PMS2 n.a. - - - - - 0 - - ?, HNPCC - MSH2 MSH2 1 1 Elke Holinski-Feder
00187027 - - Suspect of Lynch-Syndrome, Amsterdam positive, index 87297 healthy, mother (MGZ# 3487) CC at 68 y, brother CC 42 y, maternal grandfather gastric cancer, Genes MLH1, MSH2, and PMS2 normal. - - - - - 0 - - ?, HNPCC - MSH6 MSH6 1 1 Elke Holinski-Feder
00187032 - - No tumour testing has been done. - - - - - 0 - - HNPCC - MSH2 MSH2 1 1 Ian Frayling
00187034 - InSiGHT Variant Interpretation Committee April 2016 IHC loss of MSH2 and MSH6, MLH1 + PMS2 pos and MSI-H tu; index: [C18.6 (51)], [C67 (51)], [C66 (51)], [C65 (51)], [C18.0 (52)]; no further variants VUS in MSH2; 3 additional members with CC at age 46y, 52y and ?y - - - - - 0 - - HNPCC Malignant neoplasm of bladder (C67), Malignant neoplasm of cecum (C18.0), Malignant neoplasm of descending colon (C18.6), Malignant neoplasm of renal pelvis (C65), Malignant neoplasm of ureter (C66) MSH2 MSH2 1 1 Elke Holinski-Feder
00187035 - InSiGHT Variant Interpretation Committee April 2016 MSA not performed, IHC >1-10% for MSH2 + MSH6, >10%/positive for MLH1 + PMS2 - - - - - 0 - - HNPCC Malignant neoplasm of cecum (C18.0) MSH2 MSH2 1 1 Elke Holinski-Feder
00187067 - - - ? - - - - 0 - - HNPCC - MSH6 MSH6 1 1 Michael Woods
00187105 - - - F - Brazil - - 0 - - HNPCC - MSH6 MSH6 1 1 Felipe Silva
00187106 - - - F - Brazil - - 0 - - HNPCC - MSH6 - 0 1 Felipe Silva
00187107 - silvafelipe - - - Brazil - - 0 - - HNPCC - MSH6 - 0 1 Felipe Silva
00187108 - - - M - Brazil - - 0 - - HNPCC - MSH6 - 0 1 Felipe Silva
00187109 - - - F - Brazil - - 0 - - HNPCC - MSH6 - 0 1 Felipe Silva
00187117 - - - F - Brazil - - 0 - - HNPCC - MSH6 MSH6 1 1 Felipe Silva
00187118 - - - M - Brazil - - 0 - - HNPCC - MSH6 - 0 1 Felipe Silva
00187119 - - - - - Brazil - - 0 - - HNPCC - MSH6 MSH6 3 1 Felipe Silva
00187142 - - - ? - - - - 0 - - HNPCC - MSH6 MSH6 1 1 Michael Woods
00187212 - - page 1306 for details; missense mutation found in four separate families, each case different MSI or IHC situation; InSiGHT LOVDv2 ID:20775; ? - - - - 0 - - ?, HNPCC - MSH6 MSH6 1 1 Michael Woods
00187216 - - - ? - - - - 0 - - HNPCC - MSH6 MSH6 1 1 Michael Woods
00187226 - - - M - Brazil - - 0 - - HNPCC - MSH6 MSH6 1 1 Felipe Silva
00187233 - PubMed: Jin 2008 - F - China - - 0 - - HNPCC - MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00187330 - - - ? - - - - 0 - - HNPCC - MSH6 MSH6 1 1 Michael Woods
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »