Disease #00681 (cancer, pancreatic (cancer, pancreatic), OMIM:260350)

Official abbreviation	cancer, pancreatic
Name	cancer, pancreatic
OMIM ID	260350
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	37
Phenotype entries for this disease	27
Associated with 5 genes	KRAS, RBBP8, SMAD4, STK11, TP53
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
likley = 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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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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Example	Matches
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37 entries on 1 page. Showing entries 1 - 37.

Legend

How to query

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
00047912	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047913	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047914	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047915	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047916	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047917	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047918	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	2	1	Sian Jones
00047919	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047920	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00047921	-	-	-	-	-	-	-	-	-	-	cancer, pancreatic	-	ARID1A	ARID1A	1	1	Sian Jones
00109837	-	-	-	F	-	United States	Ashkanazi jewish	-	-	-	cancer, pancreatic	pancreatic ductal adenocarcinoma	ATM	ATM	1	1	Benjamin Cuiffo
00192894	-	-	-	?	-	-	-	-	-	-	?, cancer, cancer, pancreatic	acusticus neurinoma (58),, cancer, ureter (44), pancreatic cancer (71), urinary bladder (62, 65),	MLH1	MLH1	1	1	Michael Woods
00194575	-	-	-	M	-	(Germany);(Ireland)	-	-	additional info and pedigree	-	cancer, pancreatic, CRC	colon 27y (Right sided), pancreas 38y	MLH1	MLH1	1	1	Amie Blanco
00195372	-	-	Mother and Aunt pancreatic cancer, sister and Aunt breast cancer. No CRC in family;InSiGHT LOVDv2 ID:1017287;	F	-	United Kingdom (Great Britain)	-	-	pedigree	-	cancer, pancreatic	cancer, pancreas, familial (FPC); Pancreatitis 7 weeks before diagnosis	MLH1	MLH1	1	1	Jennifer Lickiss
00200329	-	-	-	F	-	Netherlands	-	-	-	-	cancer, pancreatic	cancer, pancreas, familial (FPC)	PMS2	PMS2	1	1	Carli Tops
00201506	-	-	PP2.1 = 0.972. MAPP = 43.7, Prior = 0.972	F	-	-	-	-	-	-	cancer, pancreatic	pancreas;carcinoma 42y	-	MSH2	1	1	Ian Frayling
00204088	-	-	MSI-high tumor; 25 mutations per Mb (high tumor mutational burden); father with colon cancer at age 45, sister with colon cancer at age 52, five paternal aunts and uncles with colon cancer, and five paternal first cousins with colon cancer diagnosed in their 30s and 40s	F	-	Philippines	Filipino	-	pedigree	-	cancer, pancreatic	-	MLH1	MLH1	1	1	Shyam Patel
00235326	Patient Story 1	PubMed: Patel et al. 2018	-	F	-	Philippines;United States	-	-	-	-	cancer, pancreatic, CRC	, metastatic pancreatic cancer; intact expression of MLH1, MSH2, and MSH6 with equivocal PMS2 testing (incomplete PMS2 expression with a predominant nuclear rimming pattern; Fig. 1F)	-	MLH1	2	1	InSiGHT - John-Paul Plazzer
00245631	-	PubMed: Menéndez et al. 2010	-	M	-	Spain	-	-	-	-	cancer, head/neck, cancer, pancreatic, lymphoma, non-Hodgkin, familial	-	MSH2	MSH2	2	1	Gabriel Capella
00245774	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at 68, breast cancer at 38, one first degree relative with PDAC	BRCA1, BRCA2	BRCA1	1	1	Mathias Schwartz
00245784	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 68 and one first degree relative with PDAC	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245785	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 44 and one first degree relative with PDAC	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245786	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 49 and one first degree relative with PDAC	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245787	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 62, and one first degree relative with PDAC	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245788	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 42, one second degree relative with PDAC, one first degree relative with breast cancer, and two second degree relatives with breast cancer	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245791	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 50, and one second degree realtive with PDAC	BRCA1, BRCA2	BRCA2	1	1	Mathias Schwartz
00245792	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 64, and one first degree relative with PDAC	CDKN2A	CDKN2A	1	1	Mathias Schwartz
00245793	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 50, melanoma at age 42, and two second degree relatives with PDAC	CDKN2A	CDKN2A	1	1	Mathias Schwartz
00245794	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 54 and one first degree relative with PDAC	CDKN2A	CDKN2A	1	1	Mathias Schwartz
00245795	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma at age 45, melanoma at age 42	CDKN2A	CDKN2A	1	1	Mathias Schwartz
00245796	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma at age 50, and two first-degree relatives with PDAC. No history of melanoma.	CDKN2A	CDKN2A	1	1	Mathias Schwartz
00245803	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal carcinoma (PDAC) at age 72, one first-degree relative with PDAC, and one second-degree relative with PDAC	ATM	ATM	1	1	Mathias Schwartz
00245804	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 80, and one first-degree relative with PDAC	ATM, BAP1	ATM, BAP1	2	1	Mathias Schwartz
00245805	-	PubMed: Schwartz 2019	-	-	-	-	-	-	-	-	cancer, pancreatic	Pancreatic ductal adenocarcinoma (PDAC) at age 66 and first-degree relatives with PDAC	FANCA	FANCA	1	1	Mathias Schwartz
00302657	-	PubMed: Williamson, 2019	patient presented with weight loss and pain	M	-	(Canada)	-	-	-	-	cancer, pancreatic	Weight loss (HP:0001824); Pain (HP:0012531); Pancreatic endocrine tumor (HP:0030405)	TMEM71, TSC1	-	0	1	Rosemary Ekong
00311171	-	-	patient has acinar pancreatic cancer, his father had colon cancer at age 51, his paternal grandfather passed away from GI related cancer at age 45.	M	-	(Singapore)	-	-	-	-	cancer, pancreatic	acinar pancreatic cancer	-	MSH2	1	1	InSiGHT - John-Paul Plazzer
00314796	P3-1	-	family, 2 affected sisters	F	-	France	-	-	-	-	cancer, pancreatic	Basal cell carcinoma (40) Breast ca. (42)	NTHL1	NTHL1	2	2	Flavie Boulouard

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Global Variome shared LOVD