Disease #04296

Official abbreviation MINAS
Name neoplasia, multiple inherited alleles (MINAS)
OMIM ID -
Individuals reported having this disease 48
Phenotype entries for this disease 39
Associated with 0 genes -
Associated tissues -
Disease features -
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Individuals

48 entries on 1 page. Showing entries 1 - 48.
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00043754 - PubMed: Borg 2000 - F no Sweden - - 0 - - MINAS, cancer, breast breast invasive ductal carcinoma 35y (MSI low. ERPR -ve) BRCA1, MLH1 BRCA1, MLH1 3 1 Eamonn Maher
00047315 - PubMed: Pedroni 2013 - F - (Italy) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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 MSH2 1 1 James Whitworth
00047320 - PubMed: Foppiani 2008 - M - (Italy) - - 0 - - 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 1 1 James Whitworth
00047321 - PubMed: Manoukian 2007 - F - (Italy) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - MINAS parathyroid hyperpalsia 56y; Breast cancer 60y BRCA2, MEN1 BRCA2, MEN1 2 1 James Whitworth
00047326 - PubMed: Kashiwada 2012 - F - (Japan) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - MINAS colon cancer 16y APC, MSH2 APC, MSH2 2 1 James Whitworth
00047332 - PubMed: Augustyn 2011 - F - (United States) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - MINAS neoplasia, multiple inherited alleles; no tumours BRCA1, BRCA2 BRCA1, BRCA2 2 1 James Whitworth
00047370 - PubMed: Heidemann 2012 - F - (Germany) - - 0 - - MINAS neoplasia, multiple inherited alleles (MINAS); breast cancer 39y BRCA1, BRCA2 BRCA2 1 1 James Whitworth
00047856 - PubMed: Mastroianno 2011 - M - (Italy) - - 0 - - 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) - - 0 - - 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) - - 0 - - MINAS no features 6y MEN1, RET MEN1, RET 2 1 James Whitworth
00047859 - PubMed: Mastroianno 2011 - F - (Italy) - - 0 - - MINAS primary hyperparathyroidism 13y; Pituitary tumour 15y MEN1, RET MEN1, RET 2 1 James Whitworth
00047860 - PubMed: Valle 2004 - F - (Spain) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - 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) - - 0 - - MINAS neoplasia, multiple inherited alleles (MINAS). Uterine myomas <65y; Meningioma <65y; Breast invasive ductal carcinoma. Multifocal 65y (Triple negative histology) BRCA1, PALB2 PALB2 1 1 James Whitworth
00047871 26 PubMed: Ercolino 2014 - M - (Italy) - - 0 - - 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) - - 0 - - 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
00047877 - PubMed: Borg 2000 - F - (Sweden) - - 0 - - MINAS breast invasive ductal carcinoma 35y (MSI low. ERPR -ve) BRCA1, MLH1 BRCA1, MLH1 3 1 James Whitworth
00048060 83 - - M - Denmark - - 0 - - 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) - - 0 - - 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 - - 0 - - MINAS pneumothorax 37y; Endometrial cancer 52y FLCN, MSH2 FLCN, MSH2 2 1 James Whitworth
00048063 - - - F - Denmark - - 0 - - MINAS renal cell carcinoma; Colorectal polyps; Multiple pneumothoraces FLCN, MSH2 FLCN, MSH2 2 1 James Whitworth
00048064 - - - M - Denmark - - 0 - - MINAS facial fibrofolliculomas FLCN, MSH2 FLCN, MSH2 2 1 James Whitworth
00048065 - - - M - India - - 0 - - 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 - - 0 - - MINAS 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) - - 0 - - MINAS, cancer, endometrial - MSH2, MSH6 MSH2, MSH6 2 1 InSiGHT - John-Paul Plazzer
00205162 15714081-Pat PubMed: Klein 2005 - - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 1 Johan den Dunnen
00205163 15714081-Pat PubMed: Klein 2005 3 unrelated families - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 3 Johan den Dunnen
00205164 15714081-Pat PubMed: Klein 2005 - - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 1 Johan den Dunnen
00205165 15714081-Pat PubMed: Klein 2005 - - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 1 Johan den Dunnen
00205166 15714081-Pat PubMed: Klein 2005 3 unrelated families - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 3 Johan den Dunnen
00205167 15714081-Pat PubMed: Klein 2005 - - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 1 Johan den Dunnen
00205168 15714081-Pat PubMed: Klein 2005 3 unrelated families - - United States - - 0 - - MINAS multiple endocrine neoplasia MEN1 MEN1 1 3 Johan den Dunnen
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