Disease #05464 (HNPCC (Lynch) (cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)))

Official abbreviation	HNPCC (Lynch)
Name	cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1602
Phenotype entries for this disease	629
Associated with 7 genes	EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-08-02 08:56:34 +02:00 (CEST)
Date last edited	2025-07-24 09:00:47 +02:00 (CEST)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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1602 entries on 17 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00036145	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MLH1	MLH1	1	1	Andreas Laner
00036149	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	HNPCC	MLH1	MLH1	1	1	Andreas Laner
00036150	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MLH1	MLH1	1	1	Andreas Laner
00036151	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	HNPCC	MLH1	MLH1	1	1	Andreas Laner
00036152	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	HNPCC, colon-ca at the age of 17, family history: positive	MLH1	MLH1	1	1	Andreas Laner
00036223	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	familiar HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036226	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036227	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036228	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	HNPCC-syndrome	MSH2	MSH2	1	1	Andreas Laner
00036229	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036235	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036239	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036247	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036248	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH2	MSH2	1	1	Andreas Laner
00036252	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	Tubulovillöses Adenom with high-grade IEN; HNPCC	MSH6	MSH6	1	1	Andreas Laner
00036263	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC / with Endometriumkarzinom	MSH6	MSH6	1	1	Andreas Laner
00036266	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	MSH6	MSH6	1	1	Andreas Laner
00036269	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC, CRC at the age of 47	MSH6	MSH6	1	1	Andreas Laner
00036527	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	PMS2	PMS2	1	1	Andreas Laner
00036529	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	PMS2	PMS2	1	1	Andreas Laner
00036531	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	PMS2	PMS2	1	1	Andreas Laner
00036532	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC, adeno cancer (colon)	PMS2	PMS2	1	1	Andreas Laner
00036534	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC	PMS2	PMS2	1	1	Andreas Laner
00036535	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC, ablation of 2 adenoma	PMS2	PMS2	1	1	Andreas Laner
00036536	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC (Lynch)	suspected HNPCC syndrome	PMS2	PMS2	1	1	Andreas Laner
00050061	III:2	PubMed: Nieminen 2011, Journal: Nieminen 2011	-	M	-	(Finland)	(European)	-	-	-	-	HNPCC (Lynch)	FCCX	BMPR1A	BMPR1A	1	14	Global Variome, with Curator vacancy
00177022	-	-	-	F	no	France	-	-	-	-	-	HNPCC (Lynch)	endometrial cancer at age 45 et colon cancer at age 60	MSH2	MSH2	1	1	Florence Coulet
00183379	-	-	-	-	-	Uruguay	-	-	-	-	-	HNPCC (Lynch)	-	EPCAM	EPCAM	1	1	Mev Dominguez-Valentin
00183382	27601186-Pat	PubMed: Lagerstedt-Robinson 2016	-	-	-	Sweden	-	-	-	-	-	HNPCC (Lynch)	-	EPCAM	EPCAM	1	1	Kristina Lagerstedt Robinson
00183530	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	MSH2	MSH2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00183539	-	-	-	M	-	Germany	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183579	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183581	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183582	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	Bethesda positive	GALNT12	GALNT12	1	1	Laura Valle
00183593	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183595	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183597	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183598	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	1	1	Laura Valle
00183603	-	-	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	GALNT12	GALNT12	2	1	Laura Valle
00186880	-	-	2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II)	M	-	-	-	-	-	-	-	HNPCC (Lynch)	Adenocarcinoma	MLH1	MLH1	1	1	Ruth Armstrong
00186881	-	-	2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Bowel Cancer; Breast-63y; Colon 66y	MLH1, MSH2, MSH6	MLH1	1	1	Ruth Armstrong
00186882	-	-	2 gen; 1xEndometrial 61;1 case CRC@64	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma	MLH1, MSH2, MSH6	MSH6	1	1	Ruth Armstrong
00186883	-	-	No FH of CRC	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal	MSH6	MSH6	1	1	Ruth Armstrong
00186884	-	-	3 gen & 6 cases of CRC( Amsterdam II)	M	-	-	-	-	-	-	-	HNPCC (Lynch)	Adenocarcinoma	MSH6	MSH6	2	1	Ruth Armstrong
00186885	-	-	2 Gen(not sucessive); 1x CRC@51;1xStomach Ca@53	M	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	Rectal Adenocarcinoma	MLH1, MSH2, MSH6	MSH6	1	1	Ruth Armstrong
00186888	-	-	2 Gen ;2casesCRC 18,66	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Ascending colon adenocarcinoma	MLH1, MSH2, MSH6	MSH6	1	1	Ruth Armstrong
00186889	-	-	Mother caecal cancer (untested) at 34y	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HNPCC (Lynch)	Caecal Adenocarcinoma	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00186890	-	-	2 Gen; 3 Cases CRC 47,75,76 (Amsterdam Criteria II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Ascending Colon adenocarcinoma	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00186891	-	-	1 Case , sebaceous adenoma	F	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	Ascending Colon Adenocarcinoma	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00186895	-	-	2 Gen;3 Cases CRC 40,45,70 (Amsterdam II Criteria)	M	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	Bowel Cancer	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00186899	-	-	3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	CRC	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00186903	-	-	4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	2 separate CRC-63y,64y	MLH1	MLH1	1	1	Ruth Armstrong
00186904	-	-	2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Right Colon Adenocarcinoma	MLH1	MLH1	1	1	Ruth Armstrong
00186905	-	-	2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	No tumour/not symptomatic	MLH1	MLH1	1	1	Ruth Armstrong
00186906	-	-	2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	Colorectal Carcinoma	MLH1	MLH1	1	1	Ruth Armstrong
00186907	-	-	2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II)	F	-	-	-	-	-	-	-	HNPCC (Lynch)	No tumour/not symptomatic	-	MLH1	1	1	Ruth Armstrong
00186908	-	-	mother with melanoma @63 yr	M	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	HNPCC (Lynch)	colorectal cancer 42y	MSH2	MSH2	1	1	Carli Tops
00186911	-	-	-	F	-	-	-	-	-	pedigree	-	CRC, HNPCC (Lynch)	CRC; Unspecified Gynecological Cancer. 21y and 50y;	MLH1, MSH2	MLH1	1	1	InSiGHT - John-Paul Plazzer
00186912	-	InSiGHT Variant Interpretation Committee April 2016	-	M	-	-	-	-	-	pedigree	-	CRC, HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	-	?, HNPCC (Lynch)	-	MLH1	MLH1	1	1	Elke Holinski-Feder
00187024	67408	PubMed: Arnold 2020	-	-	-	-	-	-	-	-	-	HNPCC (Lynch)	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	MLH1	MLH1	1	1	Elke Holinski-Feder
00187025	-	-	76 y Urothelca, MSS, IHC positive in MLH1, MSH2, MLH6, PMS2 n.a.	-	-	-	-	-	-	-	-	?, HNPCC (Lynch)	-	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.	-	-	-	-	-	-	-	-	?, HNPCC (Lynch)	-	MSH6	MSH6	1	1	Elke Holinski-Feder
00187032	-	-	No tumour testing has been done.	-	-	-	-	-	-	-	-	HNPCC (Lynch)	-	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	-	-	-	-	-	-	-	-	HNPCC (Lynch)	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	-	-	-	-	-	-	-	-	HNPCC (Lynch)	Malignant neoplasm of cecum (C18.0)	MSH2	MSH2	1	1	Elke Holinski-Feder
00187067	-	-	-	?	-	-	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Michael Woods
00187105	-	-	-	F	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Felipe Silva
00187106	-	-	-	F	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	-	-	1	Felipe Silva
00187107	-	silvafelipe	-	-	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	-	-	1	Felipe Silva
00187108	-	-	-	M	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	-	-	1	Felipe Silva
00187109	-	-	-	F	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	-	-	1	Felipe Silva
00187117	-	-	-	F	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Felipe Silva
00187118	-	-	-	M	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	-	-	1	Felipe Silva
00187119	-	-	-	-	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	3	1	Felipe Silva
00187142	-	-	-	?	-	-	-	-	-	-	-	HNPCC (Lynch)	-	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;	?	-	-	-	-	-	-	-	?, HNPCC (Lynch)	-	MSH6	MSH6	1	1	Michael Woods
00187216	-	-	-	?	-	-	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Michael Woods
00187226	-	-	-	M	-	Brazil	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Felipe Silva
00187233	-	PubMed: Jin 2008	-	F	-	China	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00187330	-	-	-	?	-	-	-	-	-	-	-	HNPCC (Lynch)	-	MSH6	MSH6	1	1	Michael Woods

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Global Variome shared LOVD

ARV1 (ARV1 homolog (S. cerevisiae))