Disease #00423 (cancer, endometrial, OMIM:608089)

Official abbreviation	-
Name	cancer, endometrial
OMIM ID	608089
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Somatic mutation
Individuals reported having this disease	225
Phenotype entries for this disease	191
Associated with 5 genes	CDH1, MLH3, MSH3, MSH6, PTEN
Associated tissues	-
Disease features	-
Remarks	-

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
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Andorra
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Angola
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Anguilla
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Antarctica
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Antigua and Barbuda
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Australia
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Austria
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Belgium
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Benin
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Bermuda
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Bhutan
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
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Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
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Comoros
(Comoros)
Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Czech Republic
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Denmark
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Dominica
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Dominican Republic
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Ecuador
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Egypt
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El Salvador
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Equatorial Guinea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Mallorca
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Morocco
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Myanmar
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Netherlands
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Paraguay
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Peru
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Poland
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Polynesia, French
(Polynesia, French)
Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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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
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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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
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South Africa
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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
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
(Turkey)
Turkmenistan
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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
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Vanuatu
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Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
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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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225 entries on 3 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00186953	-	-	-	-	-	Finland	-	-	-	-	cancer, cancer, ovarian, cancer, endometrial	, Tumour type not specified for Protein expression result.	MLH3	MLH3	1	1	Rolf Sijmons
00186964	-	-	-	?	-	Finland	-	-	-	-	?, cancer, cancer, ovarian, cancer, endometrial	, Tumour type not specified for Protein Expression result	MLH3	MLH3	1	1	Rolf Sijmons
00187020	-	-	Patient did not have a family history suggestive of inherited cancer susceptibility.	F	-	-	white	-	-	-	cancer, endometrial	poorly differentiated endometrioid adenocarcinoma tumor specimen	MLH3	MLH3	1	1	InSiGHT - John-Paul Plazzer
00187021	-	InSiGHT Variant Interpretation Committee April 2016	The family's details are as follows:; Proband Dx uterine cancer 57y, IHC loss of MSH6 + MSH2, MSH6 variant identified (attached report); Proband's sister Dx CRC 29y, IHC weak expression of MSH6, MSH6 variant identified; Three other sisters; one has annual cy and has had TAH/BSO (unknown mutation status), one reports having a number of adenomatous polyps removed with one of a larger size (currently chasing confirmation in order to perform IHC and patient has consented to have testing for the variant); Update: One sister has been found to have the MSH6 variant; she has a PHx of multiple polyps. Confirmed she has had at least 4 adenomas and 7 hyperplastic polyps since age 32y. ; Update: One sister has been found to be negative for the variant; she has been having annual colonoscopies and reports a couple of small polyps have been found during this time. We have been able to access her most recent colonoscopy finding a 2mm TA at 55years of age.; Mother Dx CRC 67, IHC loss of MLH1 + PMS2, BRAF wild type, no mutations in MLH1 or PMS2 (sequencing + MLPA), does NOT have MSH6 variant, currently awaiting MLH1 promotor methylation results; Mother has two sisters with CRC (one at 62y, one at 63y); Father reportedly Dx prostate cancer later in life, died at 90y; Paternal grandfather reportedly Dx CRC early 70s; No other known paternal FHx; Strong FHx CRC	-	-	Australia	-	-	-	-	cancer, endometrial	-	MSH2, MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00187060	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00187065	-	-	-	F	-	Spain	-	-	-	-	cancer, endometrial	Additional info: yes Pedigree available: yes;	MSH6	MSH6	1	1	José Luis Soto
00187144	-	PubMed: Hampel 2006	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00187172	-	-	Mother CRC at 77 -no tumour or germline testing; Mat aunt EC at 58 - MSH6-, no germline testing; InSiGHT LOVDv2 ID:1017166;	F	-	United States	white, British	-	-	-	cancer, endometrial	Additional info: yes; clear cell ovarian (46yr) and endometrioid endometrial (46yrs) Pedigree available: yes;	MSH6	MSH6	1	1	Helen Hanson
00187198	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187229	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00187377	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187384	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	Additional info: adenocarc endometrium;	MSH6	MSH6	2	1	INSiGHT group
00187413	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187481	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	Additional info: adenocarc endometrium;	MSH6	MSH6	1	1	INSiGHT group
00187495	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	2	1	Michael Woods
00187514	-	-	-	F	-	(Spain)	-	-	-	-	cancer, rectal, cancer, endometrial	, Additional info: yes; Pedigree available: yes;	MSH6	MSH6	1	1	Sira Moreno
00187565	-	-	Brother CRC 66y with abnormal MSH6 expression, but variant and MSI status unknown.; InSiGHT LOVDv2 ID:1017161;	F	-	United Kingdom (Great Britain)	-	-	-	-	cancer, endometrial	Additional info: yes Pedigree available: yes;	MSH6	MSH6	1	1	Ian Frayling
00187566	-	-	One of 3 identical triplets, who have also developed endometrial cancer at ages 51 and 52.; InSiGHT LOVDv2 ID:1017162;	F	-	United Kingdom (Great Britain)	-	-	-	-	cancer, endometrial	Additional info: no; Pedigree available: yes;	MSH6	MSH6	1	1	Ian Frayling
00187572	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187584	-	-	-	F	-	(Netherlands)	-	-	-	-	cancer, endometrial	Additional info: yes Pedigree available: yes;	MSH6	MSH6	1	1	Amie Blanco
00187591	-	-	-	F	-	Cuba	Hispanic	-	-	-	cancer, endometrial	Pedigree available: yes;	MSH6	MSH6	1	1	Rachel Silva-Smith
00187619	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187655	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	Additional info: adenocarc endometrium;	MSH6	MSH6	1	1	INSiGHT group
00187658	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Sira Moreno
00187690	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	3	1	Amanda Spurdle
00187701	-	-	this patient had two other tumors (breast and pancreatic cancer); InSiGHT LOVDv2 ID:1008483;	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Felipe Silva
00187704	-	-	Brother with mutliple colorectal polyps (untested); InSiGHT LOVDv2 ID:1017208;	F	-	United Kingdom (Great Britain)	-	-	-	-	cancer, endometrial	Additional info: grade 2 endometrioid adenocarcinoma Pedigree available: yes;	MSH6	MSH6	2	1	Matilda Bradford
00187712	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00187810	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	2	1	Amanda Spurdle
00187862	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187883	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Carli Tops
00187898	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00187948	-	-	-	F	-	Spain	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Daniel Rueda
00188068	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188070	-	-	-	F	-	Australia	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188073	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Anne Jansen
00188114	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	2	1	Amanda Spurdle
00188129	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188193	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188203	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188217	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188227	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188228	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188229	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188277	-	-	Family history: brother-colon & kidney(49), sister-uterus(56), sister-uterus(36) & cervix(52), sister-uterus(36), mother-uterus(48) & colon(59) ; InSiGHT LOVDv2 ID:1008356;	M	-	Canada	French Canadian	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188292	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Michael Woods
00188307	-	-	-	F	-	Australia	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Amanda Spurdle
00188318	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	Additional info: cancer, endometrial;	MSH6	MSH6	1	1	Michael Woods
00188353	-	-	uterus 49y	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00188354	-	-	Endomet56	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00188355	-	-	Endomet56	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00188367	-	-	-	F	-	-	-	-	-	-	?, cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00188385	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	INSiGHT group
00188414	-	PubMed: Ward (2013)	-	F	-	United States	white	-	-	-	CRC, cancer, endometrial	cecum, 2x uterus (64y,66y,66y)	MLH1, MSH2, MSH6, MUTYH, PMS2	MLH1	1	1	Robyn Ward
00188426	-	-	Patient with uterine cancer MSI-H and loss of MSH6. MGF, bladder at 75.; Father, colon at 73, prostate at 69. pat. cousin, uterine at 37. pat. uncle, prostate at 62.	F	-	United States	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00188429	-	-	Sister had endometrial cancer at 52 - not tested. Her brother had prostate cancer. NO other known family history.	F	-	-	-	-	-	-	cancer, endometrial	-	MSH6	MSH6	1	1	Cheryl Berlin
00188477	-	-	-	F	-	Spain	-	-	-	-	cancer, breast, CRC, cancer, endometrial	-	MSH2	MSH2	1	1	Gabriel Capella
00188521	-	-	Mother of proband had endometrial at 62y and colon at 67y	F	-	United States	Asian	-	-	-	cancer, endometrial	-	MSH2, MSH6	MSH2	1	1	InSiGHT - John-Paul Plazzer
00188525	-	-	58yo Asian F dx with endometrial ca at 57, MSH2 and MSH6 absent on IHC	F	-	United States	Asian	-	-	-	cancer, endometrial	-	MSH2	MSH2	1	1	InSiGHT - John-Paul Plazzer
00188526	-	-	57yo Asian F dx with endometrial ca at 46; mother transitional cell of the ureter at 76 and stomach/pancreatic at 80, brother CRC at 32. Family meets Amsterdam II criteria.	F	-	United States	Asian	-	-	-	cancer, endometrial	-	MSH2	MSH2	1	1	InSiGHT - John-Paul Plazzer
00188527	-	-	63yo Asian F w/ endometrial ca @48 and colon ca @63; mom w/ panc ca @63, pat aunt w/ breast ca, pat aunt w/ liver ca, pat aunt w/ colon ca @50s, pat uncle w/ colon ca @50s	F	-	United States	Asian	-	-	-	CRC, cancer, endometrial	-	-	MSH2	1	1	InSiGHT - John-Paul Plazzer
00188529	-	-	48yo Asian F w/ endometrial vca @37 and colon ca @46; mother w/ cervicalca @48, mat aunt w/ liverca @37	F	-	United States	Asian	-	-	-	CRC, cancer, endometrial	-	MSH2, MSH6	MSH2	1	1	InSiGHT - John-Paul Plazzer
00188535	-	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	CRC, cancer, endometrial	-	MSH6	MSH6	1	1	Joanne Field
00188537	-	E39, S67	-	F	-	Netherlands	-	-	-	-	CRC, cancer, endometrial	, sigmoid; some polyps	MSH6	MSH6	1	1	Carli Tops
00188547	-	-	no family history	F	-	Germany	-	-	-	-	cancer, endometrial	66 y EC	MLH1	MLH1	1	1	Elke Holinski-Feder
00188630	-	none	PMS2 deficient endometrial cancer	F	-	-	white	-	-	-	cancer, endometrial	-	PMS2	PMS2	1	17	Sean Young
00188634	-	-	-	F	-	Ireland	white	-	-	-	cancer, breast, cancer, endometrial	-	MSH2, MSH6	MSH2	1	1	Michael Peter Farrell
00188773	-	-	Ovarian cancer at 36y (or cysts?), Rectal cancer at 59y, Renal cancer at 59y (clear cell), Endometrial cancer at 59y, Urothelial bladder carcinoma at 76y; IHC: Negative for MSH6 (endometrial and rectal tumours); MSH2 – no mutations detected; Proband’s father had colorectal cancer aged 66 (now deceased); ; Proband’s paternal uncle had colorectal cancer in his late 40s (now deceased); ; Proband’s paternal uncle’s son:; Transitional cell cancer of ureter at 74y, Colorectal cancer at 72y; Microsatellite markers – unstable; IHC studies have been conducted again on the colorectal and endometrial tumours. This time there was positive staining for MSH2, MLH1 and PMS2, and only negative staining for MSH6; BRAF V600E absent; MSH6 variant present	F	-	United Kingdom (Great Britain)	-	-	-	-	cancer, bladder, cancer, kidney, cancer, ovarian, cancer, rectal, cancer, endometrial	, Renal cancer at 59y (clear cell), Urothelial bladder carcinoma at 76y	MSH2, MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00188839	-	-	-	?	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	2	1	Michael Woods
00188844	-	-	-	?	-	-	-	-	-	-	cancer, rectal, cancer, endometrial	cancer, endometrial (42), cancer, rectal (47)	MLH1	MLH1	2	1	Michael Woods
00188855	-	PubMed: Hendriks 2006	-	F	-	Netherlands	-	-	-	-	cancer, endometrial	-	MLH1, MSH6, PMS2	MLH1, MSH6, PMS2	4	1	Carli Tops
00192840	-	-	-	?	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	Michael Woods
00192897	-	-	-	?	-	-	-	-	-	-	cancer, cancer, endometrial	cancer, ureter (77), endometrium cancer (55)	MLH1	MLH1	1	1	Michael Woods
00194526	-	-	-	F	-	-	-	-	-	-	cancer, cancer, endometrial	, cancer, thyroid / parathyroid	MLH1	MLH1	1	1	Amanda Spurdle
00194527	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	2	1	Amanda Spurdle
00194528	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	Amanda Spurdle
00194529	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	Amanda Spurdle
00194566	-	-	-	F	-	Finland	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	Carli Tops
00194578	-	-	germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869;	F	-	(Netherlands)	-	-	-	-	cancer, endometrial	endometrial, 53y	MLH1, PMS2	MLH1, PMS2	2	1	Carli Tops
00194760	-	-	BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013533;	F	-	-	-	-	-	-	cancer, ovarian, CRC, cancer, endometrial	, Endometrial and Ovarian cancer dx 47	MLH1	MLH1	1	1	INSiGHT group
00194764	-	-	BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013537;	F	-	-	-	-	-	-	cancer, breast, CRC, cancer, endometrial	, Breast cancer 56, Endometrial cancer 53	MLH1	MLH1	1	1	INSiGHT group
00194766	-	-	BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013539;	F	-	-	-	-	-	-	cancer, breast, cancer, endometrial	, Breast cancer dx 49	MLH1	MLH1	1	1	INSiGHT group
00194776	-	-	BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013549;	F	-	-	-	-	-	-	cancer, ovarian, CRC, cancer, endometrial	CRC Metachronous (46y, 48y), Endometrial and Ovarian cancer dx 47	MLH1	MLH1	1	1	INSiGHT group
00194778	-	-	MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013551;	F	-	-	-	-	-	-	?, cancer, endometrial	, Polyps colon dx 41	MLH1	MLH1	1	1	INSiGHT group
00194860	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	INSiGHT group
00195012	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	Endometrium	MLH1	MLH1	1	1	INSiGHT group
00195135	-	-	-	-	-	-	-	-	-	-	cancer, breast, CRC, cancer, endometrial	Breast58, colon58, Endom55	MLH1	MLH1	1	1	INSiGHT group
00195136	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	Endom60	MLH1	MLH1	1	1	INSiGHT group
00195148	-	-	BRAF V600E mutation status: BRAF: no mutation; BRAF testing method: ;InSiGHT LOVDv2 ID:1016658;; Sporadic	-	-	-	-	-	-	-	cancer, endometrial	Poorly differentiated endometrial cancer stage 1B	MLH1	MLH1	1	1	INSiGHT group
00195204	-	-	Last known age healthy/unknown disease: 54;InSiGHT LOVDv2 ID:1016763;	F	-	-	-	-	-	-	cancer, endometrial	Last known age healthy/unknown disease: 54	MLH1	MLH1	2	1	INSiGHT group
00195221	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	endometrial	MLH1	MLH1	1	1	INSiGHT group
00195225	-	-	-	F	-	-	-	-	-	-	cancer, endometrial	Endometrial adenocarcinoma	MLH1	MLH1	1	1	INSiGHT group
00195235	-	-	MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016823;	F	-	-	-	-	-	-	cancer, endometrial	adenocarc endometrium	MLH1, MSH6	MLH1, MSH6	2	1	INSiGHT group
00195238	-	-	MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016826;	F	-	-	-	-	-	-	cancer, endometrial	adenocarc endometrium	MLH1, MSH6	MLH1, MSH6	2	1	INSiGHT group
00195251	-	-	MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016839;	F	-	-	-	-	-	-	cancer, endometrial	adenocarc endometrium	MLH1	MLH1	1	1	INSiGHT group
00195256	-	-	MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016865;	F	-	-	-	-	-	-	cancer, endometrial	adenocarc endometrium	MLH1, MSH6	MLH1, MSH6	3	1	INSiGHT group
00195269	-	-	-	-	-	-	-	-	-	-	cancer, endometrial	Endometr56	MLH1	MLH1	1	1	INSiGHT group
00195353	-	-	-	F	-	United States	United Kingdom	-	yes, pedigree	-	CRC, cancer, endometrial	Colon (67y) location: Cecum; Normal IHC, Uterine (52y)	MLH1	MLH1	1	1	Jamilyn Zepp
00195369	-	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	cancer, endometrial	-	MLH1	MLH1	1	1	Helen Lindsay
00195370	-	-	MSI high on both endometrial and colorectal tumours. IHC only performed on colorectal tumour. ;InSiGHT LOVDv2 ID:1017283;	F	-	United Kingdom (Great Britain)	-	-	additional info and pedigree	-	cancer, endometrial	endometrial (57y) colorectal (60y)	MLH1	MLH1	1	1	Helen Lindsay

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Global Variome shared LOVD