Disease #04296 (MINAS (neoplasia, multiple inherited alleles (MINAS)))

Official abbreviation	MINAS
Name	neoplasia, multiple inherited alleles (MINAS)
OMIM ID	-
Inheritance	Autosomal dominant, Autosomal recessive, Somatic mosaicism
Individuals reported having this disease	139
Phenotype entries for this disease	130
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-07-02 09:20:44 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

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Operator	Column type	Example	Matches
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	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
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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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139 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00043754	-	PubMed: Borg 2000	-	F	no	Sweden	-	-	-	-	-	cancer, breast, MINAS	breast invasive ductal carcinoma 35y (MSI low. ERPR -ve)	BRCA1, MLH1	BRCA1, MLH1	3	1	Eamonn Maher
00047315	-	PubMed: Pedroni 2013	-	F	-	(Italy)	-	-	-	-	-	MINAS	breast cancer 35y (Loss of MLH1 on IHC . LOH MLH1 and BRCA1); Endometrial carcinoma (Loss of MLH1 on IHC. LOH MLH1); Ovarian carcinoma 39y (Loss of MLH1 in IHC. LOH MLH1 ); Renal clear cell carcinoma 39y; Breast cancer (contralateral) 46y (Loss of MLH1 on IHC. LOH and BRCA1 )	BRCA1, MLH1	BRCA1, MLH1	2	1	James Whitworth
00047318	-	PubMed: Kast 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; endometrial endometroid adenocarcinoma 46y (loss of MSH6 on IHC)	BRCA1, MSH6	BRCA1, MSH6	2	1	James Whitworth
00047319	-	PubMed: Thiffault 2004	-	F	-	(Canada)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; lobular and ductal carcinoma in situ 32y (ERPR +ve); Endometroid adenocarcinoma 40y (No MMR deficiency on IHC. MSI low); Colon villotubular adenoma. 40y (Loss of MSH2 on IHC. MSI high)	BRCA2, MSH2	BRCA2, MSH2	2	1	James Whitworth
00047320	-	PubMed: Foppiani 2008	-	M	-	(Italy)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; cutaneous malignant melanoma <55y; Parathyroid chief cell adenoma 55y; Thyroid sclerotic papillary carcinoma 55y; Thyroid C cell hyperplasia 55y	CDKN2A, RET	CDKN2A, RET	2	1	James Whitworth
00047321	-	PubMed: Manoukian 2007	-	F	-	(Italy)	-	-	-	-	-	MINAS	breast cancer 31y; breast cancer 66y; leiomyosarcoma of chest wall 71y (in breast radiotherapy field)	BRCA2, TP53	BRCA2, TP53	2	1	James Whitworth
00047322	-	PubMed: Monnerat 2007	-	F	-	(France)	-	-	-	-	-	MINAS	cutaneous malignant melanoma 65y; Breast cancer 69y; Ovarian cancer 69y; Colon cancer 74y	BRCA2, TP53	BRCA2, TP53	2	1	James Whitworth
00047323	-	PubMed: Ghataorhe 2007	-	F	-	(United States)	-	-	-	-	-	MINAS	abnormal secretory parathyroid gland 34y; Pancreastic mass. Unknown histology. Non functional 35y	BRCA2, MEN1	BRCA2, MEN1	2	1	James Whitworth
00047324	-	PubMed: Ghataorhe 2007	-	F	-	(United States)	-	-	-	-	-	MINAS	cushing syndrome (implied pituitary origin) 10y; Hypercalcaemia (implied hyperparathyroidism) 31y	BRCA2, MEN1	BRCA2, MEN1	2	1	James Whitworth
00047325	-	PubMed: Ghataorhe 2007	-	F	-	(United States)	-	-	-	-	-	MINAS	parathyroid hyperpalsia 56y; Breast cancer 60y	BRCA2, MEN1	BRCA2, MEN1	2	1	James Whitworth
00047326	-	PubMed: Kashiwada 2012	-	F	-	(Japan)	-	-	-	-	-	MINAS	facial papules <28y; Colon carcinoma and multiple colon polyps 28y; Recurrent pneumothoraces x4. Pulmonary cysts 28y (first one)	APC, FLCN	APC, FLCN	2	1	James Whitworth
00047327	-	PubMed: Kilmartin 1996	-	M	-	(Ireland)	-	-	-	-	-	MINAS	retinal haemangioma x2 21y; Cerebellar haemangioblastoma 41y Rectal carcinoma and multiple colonic polyps 41y	APC, VHL	APC	1	1	James Whitworth
00047328	-	PubMed: Plon 2008	-	F	-	(United States)	-	-	-	-	-	MINAS	lipoma; abdominal wall 0y; Haemangiomas 1y; Macrocephaly; Ovarian granulosa cell tumour 1y (No somatic PTEN or TP53 mutations. LOH PTEN . No LOH TP53); Xanthoastrocytoma. Temporal lobe 3y (No somatic PTEN or TP53 mutations. No LOH PTEN or TP53); Pelvic liposarcoma 4y (No somatic PTEN or TP53 mutations. LOH PTEN . No LOH TP53)	PTEN, TP53	PTEN, TP53	2	1	James Whitworth
00047329	-	PubMed: Zbuk 2007	-	F	-	(United States)	-	-	-	-	-	MINAS	macrocepahly; Papillomatous papules; Paraganglioma. Left common carotid 18y; Fibrocystic breast diasease 20-30y; Papillary thyroid cancer 37y; Paraganglioma. Right carotid body 39y; Uterine leiomyomas 30-40y	PTEN, SDHC	PTEN, SDHC	2	1	James Whitworth
00047330	-	PubMed: Soravia 2005	-	M	-	(Italy)	-	-	-	-	-	MINAS	colon polyps x5. 4x adenomas 24y (1x dysplastic MSI high. Loss of MSH2 and MSH6 on IHC); Colon adenocarcinoma. Right colon 25y; Gastric/duodenal adenoma x30 25y; Desmoid tumour. Mesenteric 26y	APC, MSH2	APC, MSH2	2	1	James Whitworth
00047331	-	PubMed: Uhrhammer and Bignon 2008	-	M	-	(France)	-	-	-	-	-	MINAS	colon cancer 16y	APC, MSH2	APC, MSH2	2	1	James Whitworth
00047332	-	PubMed: Augustyn 2011	-	F	-	(United States)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; ovarian serous carcinoma with papillary features. Bilateral 50y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047353	-	PubMed: Augustyn 2011	-	F	-	(United States)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; breast cancer 40y (Triple negative histology)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047354	-	PubMed: Bell 2002	-	F	-	(United States)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; breast cancer 33y (LOH BRCA2. No LOH BRCA1); breast cancer 44y (LOH BRCA2. No LOH BRCA1); breast cancer 47y (LOH BRCA1. No LOH BRCA2)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047355	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	neoplasia, multiple inherited alleles; no tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047357	-	PubMed: Caldes 2002	-	M	-	(Spain)	-	-	-	-	-	MINAS	Prostate cancer 66y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047358	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	Breast cancer 70y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047359	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	Breast cancer 66y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047360	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	Breast cancer 28y (No LOH BRCA1 or BRCA2)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047361	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047362	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047363	-	PubMed: Caldes 2002	-	F	-	(Spain)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047364	?;Pat1	PubMed: Choi 2006, PubMed: Noh 2012	-	F	-	Korea	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 26y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047365	-	PubMed: Choi 2006	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 33y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047366	-	PubMed: Heidemann 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	Breast cancer 37y; Breast cancer 39y; Ovarian cancer 63y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047367	-	PubMed: Heidemann 2012	-	M	-	(Germany)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047368	-	PubMed: Heidemann 2012	-	F	-	-	-	-	-	-	-	MINAS	Breast cancer 32y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047369	-	PubMed: Heidemann 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	Breast cancer 31y; Breast cancer (contralateral) 35y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047370	-	PubMed: Heidemann 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	breast cancer 39y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047371	-	PubMed: Heidemann 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	Cervical cancer 26y; Breast cancer 40y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047372	-	PubMed: Leegte 2005	-	F	-	(Netherlands)	-	-	-	-	-	MINAS	Ovarian papillary serous cystadenocarcinoma 40y (LOH BRCA2); Breast infiltrative ductal carcinoma 45y (LOH BRCA1 )	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047373	-	PubMed: Leegte 2005	-	F	-	(Netherlands)	-	-	-	-	-	MINAS	Breast cancer. Ductal 28y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047374	-	PubMed: Leegte 2005	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047375	-	PubMed: Leegte 2005	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	MINAS	Breast invasive lobular carcinoma 51y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047376	-	PubMed: Liede 1998	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	MINAS	Breast adenocarcinoma 35y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047377	-	PubMed: Loubser 2012	-	M	-	(South Africa)	-	-	-	-	-	MINAS	No tumours 49y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047378	-	PubMed: Loubser 2012	-	F	-	(South Africa)	-	-	-	-	-	MINAS	Breast ductal carcinoma 42y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047379	-	PubMed: Moslehi 2000	-	F	-	(Canada)	-	-	-	-	-	MINAS	No tumours 36y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047380	-	PubMed: Musolino 2005	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 37y (Triple negative histology)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047381	Pat3	PubMed: Noh 2012	-	F	-	(Korea)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 26y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047382	Pat4	PubMed: Noh 2012	-	F	-	(Korea)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 45y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047383	-	PubMed: Pilato 2010	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast intraductal carcinoma 38y (Triple negative histology); Ovarian papillary adenocarcinoma. Bilateral 42y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047384	-	PubMed: Smith 2008	-	F	-	(Australia)	-	-	-	-	-	MINAS	Breast cancer 34y; Colorectal carcinoma. Transverse. (No loss of MMR proteins on IHC. No microsatellelite instability) 35y; Breast cancer 53y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047385	-	PubMed: Smith 2008	-	F	-	Australia	-	-	-	-	-	MINAS	No tumours 65y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047386	-	PubMed: Tesoriero 1999	-	F	-	Australia	-	-	-	-	-	MINAS	Breast cancer <40y (LOH BRCA2 )	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047387	-	PubMed: Friedman 1998	-	F	-	(Israel)	-	-	-	-	-	MINAS	Breast cancer 38y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047388	-	PubMed: Friedman 1998	-	F	-	(Israel)	-	-	-	-	-	MINAS	Ovarian cancer 57y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047389	-	PubMed: Friedman 1998	-	F	-	(Israel)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047390	-	PubMed: Friedman 1998	-	F	-	(Israel)	-	-	-	-	-	MINAS	Breast cancer 45y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047391	-	PubMed: Ramus 1997	-	F	-	Hungary	-	-	-	-	-	MINAS	Breast cancer 48y; Ovarian cancer 50y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047392	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer 39y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047393	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer 41y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047394	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer. Bilateral 34y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047395	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer 55y; Breast cancer (contralateral) 56y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047396	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047397	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer 40y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047398	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer 33y; Breast cancer (contralateral) 49y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047399	-	PubMed: Leegte 2005	-	F	-	(United States)	-	-	-	-	-	MINAS	No tumours 61y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047400	-	PubMed: Randall 1998	-	F	-	(United States)	-	-	-	-	-	MINAS	Breast cancer. Multifocal lobular carcinoma 30y (LOH BRCA1 ); Ovarian cancer 41y (LOH BRCA1 and BRCA2 )	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047856	-	PubMed: Mastroianno 2011	-	M	-	(Italy)	-	-	-	-	-	MINAS	pituitary tumour 38y; Primary hyperparathyroidism 45y; Papillary thyroid cancer 46y; Medullary thyroid cancer 46y; Gastric carcinoid tumour 47y; Gastrinoma	MEN1, RET	MEN1, RET	2	1	James Whitworth
00047857	-	PubMed: Mastroianno 2011	-	M	-	(Italy)	-	-	-	-	-	MINAS	primary hyperparathyroidism 40y; Cushing syndrome (implied pituitary origin) 40y; Carcinoid tumour 40y; Lipoma 40y; Angiofibroma 40y; Papillary thyroid cancer 40y; Medullary thyroid cancer 40y; Gastrinoma 41y	MEN1, RET	MEN1, RET	2	1	James Whitworth
00047858	-	PubMed: Mastroianno 2011	-	M	-	(Italy)	-	-	-	-	-	MINAS	no features 6y	MEN1, RET	MEN1, RET	2	1	James Whitworth
00047859	-	PubMed: Mastroianno 2011	-	F	-	(Italy)	-	-	-	-	-	MINAS	primary hyperparathyroidism 13y; Pituitary tumour 15y	MEN1, RET	MEN1, RET	2	1	James Whitworth
00047860	-	PubMed: Valle 2004	-	F	-	(Spain)	-	-	-	-	-	MINAS	multiple colonic polyps 10y; Subcutaneous nodules; Multinodular goitre 26y; Papillary thyroid cancer, multiple nodular hyperplasia and follicular adenomas 26y; Diffuse lymphocytic chronic thyroiditis; Ovarian Morgani hidatide 15y; Cerebellar dysplastic gangliocytoma 26y; Palmar keratosis 26y; Head fibroma 26y; Lipomas 26y; Melanocytic neavi x2 28y; Facial papules 28y; Oral papillomatosis 28y	APC, PTEN	APC, PTEN	2	1	James Whitworth
00047861	-	PubMed: Lindor 2012	-	M	-	(United States)	-	-	-	-	-	MINAS	rectal carcinoma and multiple colon polyps 14y; Jejunal adenocarcinoma x6 28y x3, 34y, 44y, 52y (Loss of MLH1 and PMS2 on IHC); Duodenal adenocarcinoma 54y; Congenital hypertrophy of retinal pigment epithelium 54y; Squamous cell carcinoma. Multiple facial; Pilomatricoma. Scalp 54y; Sebaceous adenoma 54y (Loss of MLH1 and PMS2 on IHC)	APC, MLH1	APC, MLH1	2	1	James Whitworth
00047862	-	PubMed: Scheenstra 2003	-	M	-	(Netherlands)	-	-	-	-	-	MINAS	multiple colon polyps (100's) 10y; Tubular adenomas with dysplasia 10y (Loss of MLH1 on IHC)	APC, MLH1	APC, MLH1	2	1	James Whitworth
00047863	-	PubMed: Puijenbroek 2007	-	F	-	(Netherlands)	-	-	-	-	-	MINAS	colon adenomas x5 48y (All MSI stable. Retained MSH6 expression)	MSH6, MUTYH	MSH6, MUTYH	3	1	James Whitworth
00047864	-	PubMed: Pern 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	Uterine myomas <65y; Meningioma <65y; Breast invasive ductal carcinoma. Multifocal 65y (Triple negative histology)	BRCA1, PALB2	BRCA1, PALB2	2	1	James Whitworth
00047865	-	PubMed: Zuradelli 2010	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast carcinoma. Metaplastic 43y (Triple negative histology)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047866	-	PubMed: Zuradelli 2010	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast ductal cancer. Medullary type 30y (ERPR-ve); Ovarian serous papillary carcinoma 36y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047867	-	PubMed: Zuradelli 2010	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 2x foci 46y (1 lymph node ERPR -ve. 1 lymph node ERPR+ve)	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047871	26	PubMed: Ercolino 2014	-	M	-	(Italy)	-	-	-	-	-	MINAS	macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y	NF1, RET	NF1, RET	2	1	James Whitworth
00047872	27	PubMed: Campos 2013	-	F	-	(Spain)	-	-	-	-	-	MINAS	café au lait patches multiple cutaneous neurofibromas and Axillary/inguinal freckling in childhood; Breast infiltrating duct carcinoma 35y	BRCA1, NF1	BRCA1, NF1	2	1	James Whitworth
00047873	-	PubMed: Heidemann 2012	-	F	-	(Germany)	-	-	-	-	-	MINAS	Colorectal cancer. Caecal 58y; Ovarian cancer 61y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047874	-	PubMed: Heidemann 2012	-	M	-	(Germany)	-	-	-	-	-	MINAS	No tumours	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047875	Pat5	PubMed: Noh 2012	-	F	-	(Korea)	-	-	-	-	-	MINAS	Breast infiltrating duct carcinoma 35y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047876	-	PubMed: Zuradelli 2010	-	F	-	(Italy)	-	-	-	-	-	MINAS	Breast ductal carcinoma 52y (Triple negative histology); Ovarian serous adenocarcinoma. Bilateral 52y	BRCA1, BRCA2	BRCA1, BRCA2	2	1	James Whitworth
00047877	-	PubMed: Borg 2000	-	F	-	(Sweden)	-	-	-	-	-	MINAS	breast invasive ductal carcinoma 35y (MSI low. ERPR -ve)	BRCA1, MLH1	BRCA1, MLH1	3	1	James Whitworth
00048060	83	-	-	M	-	Denmark	-	-	-	-	-	MINAS	testicular seminoma 39y; Phaeochromocytoma 43y; Chromophobe renal cell carcinoma 55y; Gastrointestinal stromal tumour x2 55y; Malignant peripheral nerve sheath tumour 56y; Multiple cutaneous neurofibromas and cafe au lait patches; Recurrent pneumothoraces	FLCN, NF1	FLCN, NF1	2	1	James Whitworth
00048061	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MINAS	rectal carcinoma 27 y; Gastroesophageal adenocarcinoma 32y; Chromophobe renal cell carcinoma 32y; Facial fibrofolliculomas.	FLCN, TP53	FLCN, TP53	2	1	James Whitworth
00048062	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS	pneumothorax 37y; Endometrial cancer 52y	FLCN, MSH2	FLCN, MSH2	2	1	James Whitworth
00048063	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS	renal cell carcinoma; Colorectal polyps; Multiple pneumothoraces	FLCN, MSH2	FLCN, MSH2	2	1	James Whitworth
00048064	-	-	-	M	-	Denmark	-	-	-	-	-	MINAS	facial fibrofolliculomas	FLCN, MSH2	FLCN, MSH2	2	1	James Whitworth
00048065	-	-	-	M	-	India	-	-	-	-	-	MINAS	mucinous caecal cancer 65y; sigmoid cancer 67y; Previous skin tumours including squamous carcinoma in an actinic keratosis, multiple seborrhoeic keratoses, keratoacanthomata/squamous carcinomas x2, junctional naevi, squamous carcinoma and lentigo malignae x2	MLH1, XPA	MLH1, XPA	2	1	James Whitworth
00048066	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS, PSP	multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces	CCM2, FLCN	CCM2, FLCN	2	1	James Whitworth
00200935	-	-	sister diagnosed with pre-cancerous endometrial cells. The patient’s mother was diagnosed with stomach cancer in her 40s and one maternal aunt was diagnosed with a brain tumour aged 76	F	-	United Kingdom (Great Britain)	-	-	-	-	-	MINAS, cancer, endometrial	-	MSH2, MSH6	MSH2, MSH6	2	1	InSiGHT - John-Paul Plazzer
00205162	15714081-Pat	PubMed: Klein 2005	-	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	1	Johan den Dunnen
00205163	15714081-Pat	PubMed: Klein 2005	3 unrelated families	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	3	Johan den Dunnen
00205164	15714081-Pat	PubMed: Klein 2005	-	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	1	Johan den Dunnen
00205165	15714081-Pat	PubMed: Klein 2005	-	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	1	Johan den Dunnen
00205166	15714081-Pat	PubMed: Klein 2005	3 unrelated families	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	3	Johan den Dunnen
00205167	15714081-Pat	PubMed: Klein 2005	-	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	1	Johan den Dunnen
00205168	15714081-Pat	PubMed: Klein 2005	3 unrelated families	-	-	United States	-	-	-	-	-	MINAS	multiple endocrine neoplasia	MEN1	MEN1	1	3	Johan den Dunnen
00264000	-	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	MINAS	Colorectal carcinoma, 50y; Breast cancer, 57y	BMPR1A, PMS2	BMPR1A, PMS2	2	1	James Whitworth
00264001	-	-	-	M	-	-	-	-	-	-	-	MINAS	Fibrofolliculoma (multiple), 18y; Renal cell carcinoma, 53y	CHEK2, FLCN	CHEK2	5	1	James Whitworth

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