Disease #00037

Official abbreviation MINAS
Name neoplasia, multiple inherited alleles (MINAS)
OMIM ID -
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 5 genes FBXO11, MLH3, MSH3, MUTYH, POLD1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00028545 - F UK - - - 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 - MINAS, cancer, endometrial - MSH2, MSH6 MSH2, MSH6 2 1 John Paul Plazzer
00033542 Kashiwada 2012 F (Japan) - - - - - MINAS facial papules <28y; Colon carcinoma and multiple colon polyps 28y; Recurrent pneumothoraces x4. Pulmonary cysts 28y (first one) APC APC 1 1 James Whitworth
00033543 Kilmartin 1996 M (Ireland) - - - - - MINAS retinal haemangioma x2 21y; Cerebellar haemangioblastoma 41y Rectal carcinoma and multiple colonic polyps 41y APC APC 1 1 James Whitworth
00033544 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 1 1 James Whitworth
00033545 Uhrhammer and Bignon 2008 M (France) - - - - - MINAS colon cancer 16y APC, MSH2 APC 1 1 James Whitworth
00033546 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 APC 1 1 James Whitworth
00033547 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 1 1 James Whitworth
00033548 Scheenstra 2003 M (Netherlands) - - - - - MINAS multiple colon polyps (100's) 10y; Tubular adenomas with dysplasia 10y (Loss of MLH1 on IHC) APC, MLH1 APC 1 1 James Whitworth
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