All individuals with variants in gene PMS2

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

1670 entries on 17 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00036512	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036513	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036514	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036515	-	-	-	-	-	Germany	-	-	-	-	-	?	44y colon cancer	1	1	Andreas Laner
00036516	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036517	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected familiar tumour disease (bladder, CNS, leukaemia)	1	1	Andreas Laner
00036518	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036519	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036520	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036521	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036522	-	-	-	-	-	Germany	-	-	-	-	-	?	colon cancer; familiar hereditary tumour disease	1	1	Andreas Laner
00036523	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036524	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036525	-	-	-	-	-	Germany	-	-	-	-	-	-	-	2	1	Andreas Laner
00036526	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036527	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC	1	1	Andreas Laner
00036528	-	-	-	-	-	Germany	-	-	-	-	-	?	CRC, breast cancer at the age of 69,aunt bilateral BC in her sixties, family history positive	1	1	Andreas Laner
00036529	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC	1	1	Andreas Laner
00036530	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036531	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC	1	1	Andreas Laner
00036532	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC, adeno cancer (colon)	1	1	Andreas Laner
00036533	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected familiar intestinal cancer	1	1	Andreas Laner
00036534	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC	1	1	Andreas Laner
00036535	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC, ablation of 2 adenoma	1	1	Andreas Laner
00036536	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC	suspected HNPCC syndrome	1	1	Andreas Laner
00037590	-	-	adenocarcinoma colon and caecum 4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high	M	-	Netherlands	-	-	-	-	-	CRC	-	1	1	Arjen Mensenkamp
00052040	-	-	CRC aged 46 in proband. No additional family testing that we're aware of.	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	1	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 (Lynch)	-	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 (Lynch)	-	1	1	Ian Berry
00080768	-	-	-	-	-	Germany	-	-	-	-	-	HNPCC4	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00155594	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	4	1	CEMIC - Genotyping - Angela Solano
00155598	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	4	1	CEMIC - Genotyping - Angela Solano
00155608	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	5	1	CEMIC - Genotyping - Angela Solano
00155609	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	9	1	CEMIC - Genotyping - Angela Solano
00155612	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	8	1	CEMIC - Genotyping - Angela Solano
00155613	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	6	1	CEMIC - Genotyping - Angela Solano
00155616	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155619	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155627	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	8	1	CEMIC - Genotyping - Angela Solano
00155628	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	5	1	CEMIC - Genotyping - Angela Solano
00155635	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155641	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	7	1	CEMIC - Genotyping - Angela Solano
00155652	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	1	1	CEMIC - Genotyping - Angela Solano
00155654	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	7	1	CEMIC - Genotyping - Angela Solano
00155660	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	2	1	CEMIC - Genotyping - Angela Solano
00155667	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	7	1	CEMIC - Genotyping - Angela Solano
00155668	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	5	1	CEMIC - Genotyping - Angela Solano
00155669	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155674	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	8	1	CEMIC - Genotyping - Angela Solano
00155675	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	1	1	CEMIC - Genotyping - Angela Solano
00155679	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155680	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	8	1	CEMIC - Genotyping - Angela Solano
00155689	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	5	1	CEMIC - Genotyping - Angela Solano
00155695	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155698	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	3	1	CEMIC - Genotyping - Angela Solano
00155704	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	4	1	CEMIC - Genotyping - Angela Solano
00155707	-	contributed by Dept. of Dr Vaccaro	-	-	-	Argentina	-	-	-	-	-	?	-	5	1	CEMIC - Genotyping - Angela Solano
00173822	129643	-	Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor	M	?	Germany	-	-	-	-	-	CRC	CRC colon ascendens (pT3, N0, M0); isolated loss of PMS2 in tumor	1	1	Andreas Laner
00187028	-	-	32 y died from gastric cancer, CDH1 normal ; gastric-Ca: MSI-low (1 of 5, D17S250;) IHC predominant loss of PMS2, MLH1, MSH2, MSH6 positive ; second pathology: MSI-high (5 of 10), IHC no clear result obtainable for PMS2 expression	-	-	-	-	-	-	-	-	cancer, gastric	-	1	1	Elke Holinski-Feder
00187029	-	InSiGHT Variant Interpretation Committee April 2016	index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y).	-	-	-	-	-	-	-	-	cancer, breast	-	1	1	Elke Holinski-Feder
00187030	-	InSiGHT Variant Interpretation Committee April 2016	suspect of hered. Mamma- and Ovarial Ca, eventually somatic BRCA-Mutations detected? MammaCa 37 y; family history not informative.	-	-	-	-	-	-	-	-	cancer, breast	-	1	1	Elke Holinski-Feder
00187031	-	InSiGHT Variant Interpretation Committee April 2016	MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC	-	-	-	-	-	-	-	-	cancer, breast	-	1	1	Elke Holinski-Feder
00188556	-	-	no tumors reported in family, healthy mother	M	-	Germany	-	-	-	-	-	CRC	39 y metachronous colon Ca, 47 y jejunum Ca	1	1	Elke Holinski-Feder
00188574	-	-	-	-	-	Brazil	-	-	-	-	-	HNPCC	-	1	1	Courtney Forgeng
00188575	-	PubMed: Haraldsdottir 2018	-	F	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of rectum	1	1	Sigurdis Haraldsdottir
00188576	-	PubMed: Haraldsdottir 2018	-	F	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon	1	1	Sigurdis Haraldsdottir
00188577	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon	1	1	Sigurdis Haraldsdottir
00188578	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon	1	1	Sigurdis Haraldsdottir
00188579	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon	1	1	Sigurdis Haraldsdottir
00188580	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of sigmoid colon; BRAF V600E negative	1	1	Sigurdis Haraldsdottir
00188581	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of sigmoid colon	1	1	Sigurdis Haraldsdottir
00188582	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of caecum	1	1	Sigurdis Haraldsdottir
00188583	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of rectum; BRAF V600E negative	1	1	Sigurdis Haraldsdottir
00188584	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon	1	1	Sigurdis Haraldsdottir
00188585	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of caecum	1	1	Sigurdis Haraldsdottir
00188586	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of descending colon	1	1	Sigurdis Haraldsdottir
00188600	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of caecum	1	1	Sigurdis Haraldsdottir
00188601	-	PubMed: Haraldsdottir 2018	-	M	-	Iceland	-	-	-	-	-	CRC	Malignant neoplasm of ascending colon; 2nd hit found on tumor Coloseq, PMS2 likely LOH	1	1	Sigurdis Haraldsdottir
00188603	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC	1	1	Sigurdis Haraldsdottir
00188604	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC; 2nd hit found on tumor Coloseq, PMS2 LOH	1	1	Sigurdis Haraldsdottir
00188605	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC; 2nd hit found on tumor Coloseq, PMS2 c.564_583dup (p.S195Yfs*13)	1	1	Sigurdis Haraldsdottir
00188620	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (1) MLH1-hm (1)	1	1	Sigurdis Haraldsdottir
00188621	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (17), MLH1-hm (1), PMS2 fs (1)	1	1	Sigurdis Haraldsdottir
00188622	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None	1	1	Sigurdis Haraldsdottir
00188623	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None	1	1	Sigurdis Haraldsdottir
00188624	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (1)	1	1	Sigurdis Haraldsdottir
00188625	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (5), MLH1-hm (1)	1	1	Sigurdis Haraldsdottir
00188626	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None	1	1	Sigurdis Haraldsdottir
00188627	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (6) MLH1-hm (1)	1	1	Sigurdis Haraldsdottir
00188628	-	PubMed: Haraldsdottir 2018	-	-	-	Iceland	-	-	-	-	-	CRC	CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (3)	1	1	Sigurdis Haraldsdottir
00188630	-	none	PMS2 deficient endometrial cancer	F	-	-	white	-	-	-	-	cancer, endometrial	-	1	17	Sean Young
00188752	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188753	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188754	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188755	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188756	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188757	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188758	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188759	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon
00188760	-	-	Submitted by ICCON South Australia	-	-	Australia	-	-	-	-	-	?	-	1	1	ICCon

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Global Variome shared LOVD

PMS2 (PMS2 postmeiotic segregation increased 2 (S....))