Disease #05489 (cancer, colon (cancer, colon))

Official abbreviation	cancer, colon
Name	cancer, colon
OMIM ID	-
Inheritance	-
Individuals reported having this disease	532
Phenotype entries for this disease	399
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-10-26 16:33:57 +02:00 (CEST)
Date last edited	N/A

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	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
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

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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532 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

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
00183604	-	-	Population-based study of incident CRC in family cases	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family, incident cases	GALNT12	GALNT12	1	1	Daniel Evans
00183605	-	-	Population-based study of incident CRC in family cases	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family	GALNT12	GALNT12	1	1	Daniel Evans
00183606	-	-	Population-based incident CRC in family screening study	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family, incident cases	GALNT12	GALNT12	1	479	Daniel Evans
00183608	-	-	Population-based incident screening CRC in family study	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	incident cases	GALNT12	GALNT12	1	479	Daniel Evans
00183609	-	-	Population-based incident CRC in family screening	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family	GALNT12	GALNT12	1	479	Daniel Evans
00183610	-	-	Population-based incident CRC in family screening study	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family	GALNT12	GALNT12	1	479	Daniel Evans
00183611	-	-	Population-based incident CRC in family screening study	-	-	Canada	Newfoundland & Labrador	-	-	-	-	cancer, colon	CRC in family	GALNT12	GALNT12	1	479	Daniel Evans
00201836	-	-	Father caecal tumour @67 years, then synchronous sigmoid and renal cell carcinoma @71. Rectal ca@85 years. IHC caecal ca – loss MLH1 and PMS2; Wild type BRAF, normal methylation MLH1 germline MLH1 c.293G>A; ; Daughter – rectal polyp ca @ 50 years, endometriod ovarian ca@ 37 years Has subsequently had 4- 5 TVA.; IHC rectal polyp – normal staining. Germline MLH1 c.293G>A; ; Son – TCC bladder @ 56 years, type 2 papillary renal carcinoma @ 57 years. Colonoscopy – 3 polyps adenomas; IHC MMR renal carcinoma – normal staining. Germline wild type MLH1; ; Son – ascending colon adenocarcinoma @48 years. IHC MMR normal staining germline MLH1 c.293G>A	-	-	United Kingdom (Great Britain)	-	-	-	pedigree	-	cancer, colon	right colon cancer, sigmoid colon cancer	-	MLH1	1	1	InSiGHT - John-Paul Plazzer
00201867	-	-	-	M	-	-	-	-	-	no pedigree	-	cancer, colon, polyposis	-	MUTYH	MUTYH	2	1	Esther Sarasola
00202317	-	-	-	M	-	-	-	-	-	-	-	cancer, colon	-	MLH1, MSH2, MSH6, PMS2	MSH2	1	1	Esther Sarasola
00202335	-	PubMed: Duraturo 2015	maternal uncle died; of rectal cancer at age 57; MUT+	-	-	Italy	-	-	-	-	-	cancer, colon	Cancer of the ascending colon; at age 44;; BRAF V600E negative	-	MLH1	1	1	InSiGHT - John-Paul Plazzer
00202337	-	PubMed: Duraturo 2015 Viel et al 1997	father with kidney; cancer diagnosed at age 60; MUT+	-	-	Italy	-	-	-	-	-	cancer, colon	Cancer of the ascending colon; BRAF V600E negative	-	MLH1	1	1	InSiGHT - John-Paul Plazzer
00202338	-	PubMed: Duraturo 2015	no family; history (adopted subject)	-	-	Italy	-	-	-	-	-	cancer, colon	Cancer of the ascending colon; BRAF V600E negative	-	MSH2	1	1	InSiGHT - John-Paul Plazzer
00202339	-	PubMed: Duraturo 2015	maternal; grandmother died of rectal; cancer at age 77	-	-	Italy	-	-	-	-	-	cancer, colon	Cancer of the ascending colon; BRAF V600E negative	-	MSH2	1	1	InSiGHT - John-Paul Plazzer
00202340	-	PubMed: Duraturo 2015	no reported family; history.	-	-	Italy	-	-	-	-	-	cancer, colon	cancer of the ascending colon; BRAF V600E negative	-	MSH2	1	1	InSiGHT - John-Paul Plazzer
00202345	-	PubMed: Görgens 2006	3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	3	Astrid Out
00202346	-	PubMed: Görgens 2006	-	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	1	Astrid Out
00202348	-	PubMed: Görgens 2006	-	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	11	Astrid Out
00202350	-	PubMed: Görgens 2006	Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	1	Astrid Out
00202351	-	PubMed: Görgens 2006	Rectal cancer age 42; no family history; 1/50 patients (0 controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	1	Astrid Out
00202352	-	PubMed: Görgens 2006	3/50 (6%) HNPCC patients (42/50 <50 years); (2.6% of 116 controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	3	Astrid Out
00202353	-	PubMed: Görgens 2006	2/50 (4%) HNPCC patients (42/50 <50 years); (3.4% of 116 controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	2	Astrid Out
00202355	-	PubMed: Görgens 2006	6/50 (12%) HNPCC patients (42/50 <50 years); (11,2% of 116 controls)	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	6	Astrid Out
00202357	-	PubMed: Görgens 2006	-	-	-	Germany	white	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	12	Astrid Out
00202359	-	PubMed: Eliason 2005	4/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients	-	-	United States	-	-	-	-	-	cancer, colon	(FAP);(HNPCC)	MUTYH	MUTYH	1	5	Astrid Out
00202360	-	PubMed: Eliason 2005	7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients	-	-	United States	-	-	-	-	-	cancer, colon	(FAP);(HNPCC)	MUTYH	MUTYH	2	9	Astrid Out
00202361	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202362	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202363	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202364	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202365	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202366	-	PubMed: Eliason 2005	4/219 APC neg FAP patients; 3/306 MLH1 and MSH2 neg HNPCC patients	-	-	United States	-	-	-	-	-	cancer, colon	(FAP);(HNPCC)	MUTYH	MUTYH	1	7	Astrid Out
00202367	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202368	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202369	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	2	Astrid Out
00202370	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202371	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202372	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	HNPCC	MUTYH	MUTYH	1	8	Astrid Out
00202373	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202374	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202375	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	(FAP);(HNPCC)	MUTYH	MUTYH	1	2	Astrid Out
00202376	-	PubMed: Eliason 2005	-	-	-	United States	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	2	Astrid Out
00202390	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP;CRC	MUTYH	MUTYH	1	1	Astrid Out
00202391	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP;CRC	MUTYH	MUTYH	2	1	Astrid Out
00202392	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP;CRC	MUTYH	MUTYH	1	1	Astrid Out
00202393	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP;CRC	MUTYH	MUTYH	2	1	Astrid Out
00202394	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202395	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202396	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202397	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202398	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202399	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202400	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202401	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	2	1	Astrid Out
00202402	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202403	-	PubMed: Aceto 2005	-	-	-	Italy	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202404	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202405	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202406	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202407	-	PubMed: Enholm 2003	1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls	M	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202409	-	PubMed: Enholm 2003	-	M	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202412	-	PubMed: Enholm 2003	1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls	F	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202413	-	PubMed: Enholm 2003	3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls	F	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202414	-	PubMed: Enholm 2003	4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls	F	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202415	-	PubMed: Enholm 2003	3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls	M	-	Finland	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202416	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202417	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202418	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202419	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202420	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202421	-	PubMed: Gismondi 2004	-	-	-	Italy	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202427	-	PubMed: Sieber 2003, OMIM:var0002	3/107 UK patients with classic FAP; APC mutation negative	M	-	Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202429	-	PubMed: Sieber 2003, OMIM:var0002	3/107 UK patients with classic FAP; APC mutation negative	F	-	Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202440	-	PubMed: Sieber 2003, OMIM:var0001	-	F	-	Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202442	-	PubMed: Sieber 2003, OMIM:var0001	3/107 UK patients with classic FAP; APC mutation negative	M	-	Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202444	-	PubMed: Sieber 2003, OMIM:var0001	3/107 UK patients with classic FAP; APC mutation negative	F	-	Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal	-	-	-	-	-	cancer, colon	FAP	MUTYH	MUTYH	1	1	Astrid Out
00202453	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202454	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202455	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202456	-	PubMed: Bouguen 2007	APC negative patients	F	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202457	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202458	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202459	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202460	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202461	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202462	-	PubMed: Bouguen 2007	APC negative patients	M	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	1	1	Astrid Out
00202463	-	PubMed: Bouguen 2007	APC negative patients	F	-	France	white	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202470	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	1	1	Astrid Out
00202471	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	1	1	Astrid Out
00202472	-	PubMed: Alhopuro 2005	7/24 individuals (22 families). FAP: 19, AFAP: 3	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	1	7	Astrid Out
00202473	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	FAP;HNPCC	MUTYH	MUTYH	1	2	Astrid Out
00202474	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	1	1	Astrid Out
00202475	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	1	1	Astrid Out
00202476	-	PubMed: Alhopuro 2005	-	-	-	Finland	-	-	-	-	-	cancer, colon	(FAP);(AFAP)	MUTYH	MUTYH	2	1	Astrid Out
00202477	-	PubMed: Alhopuro 2005	population-based series; 1 homozygote / 1,042 CRC patients (0/85 controls)	-	-	Finland	-	-	-	-	-	cancer, colon	AFAP;cancer, cervix	MUTYH	MUTYH	1	1	Astrid Out
00202483	-	PubMed: Kambara 2004	familial CRC patient; does not meet Bethesda criteria.	M	-	Australia	-	-	-	-	-	cancer, colon	-	MUTYH	MUTYH	2	1	Astrid Out
00202486	-	PubMed: Kambara 2004	-	M	-	Australia	-	-	-	-	-	cancer, colon	AFAP; mulitple polyps	MUTYH	MUTYH	1	1	Astrid Out
00202487	-	PubMed: Kambara 2004	-	M	-	Australia	-	-	-	-	-	cancer, colon	AFAP; mulitple polyps	MUTYH	MUTYH	1	1	Astrid Out
00202490	-	PubMed: Vandrovcová 2004	1 biallelic among 21 APC neg patients (probands)	M	-	Czech Republic	-	-	-	-	-	cancer, colon	AFAP	MUTYH	MUTYH	2	1	Astrid Out
00202494	-	PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009	Among 170 APC negative Dutch FAP patients	M	-	Netherlands	-	-	-	-	-	cancer, colon	Multiple polyps; CRC 2 coecum, 2 ascending colonileum; stage 1 D and 4; Age CRC 41, 41, 41, 41, 41 died of CRC (44); family history Sporadic;; no EGD; 41y-CRC; diagnosis: colorectal symptoms; mulitple polyps	MUTYH	MUTYH	2	1	Carli Tops

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Global Variome shared LOVD

HCCS (holocytochrome c synthase)