Phenotypes for disease #04296 (MINAS (neoplasia, multiple inherited alleles (MINAS)))

95 entries on 1 page. Showing entries 1 - 95.
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Individual ID     
0000034678 breast cancer 31y; breast cancer 66y; leiomyosarcoma of chest wall 71y (in breast radiotherapy field) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047321
0000034721 neoplasia, multiple inherited alleles; endometrial endometroid adenocarcinoma 46y (loss of MSH6 on IHC) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047318
0000034722 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) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047319
0000034723 neoplasia, multiple inherited alleles; cutaneous malignant melanoma <55y; Parathyroid chief cell adenoma 55y; Thyroid sclerotic papillary carcinoma 55y; Thyroid C cell hyperplasia 55y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047320
0000034724 neoplasia, multiple inherited alleles; ovarian serous carcinoma with papillary features. Bilateral 50y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047332
0000034725 neoplasia, multiple inherited alleles; breast cancer 40y (Triple negative histology) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047353
0000034726 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) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047354
0000034727 neoplasia, multiple inherited alleles; no tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047355
0000034747 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00048065
0000034748 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) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047861
0000034749 multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048066
0000034750 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047329
0000034751 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) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047328
0000034752 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047860
0000034753 multiple colon polyps (100's) 10y; Tubular adenomas with dysplasia 10y (Loss of MLH1 on IHC) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047862
0000034754 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047330
0000034755 colon cancer 16y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047331
0000034756 facial papules <28y; Colon carcinoma and multiple colon polyps 28y; Recurrent pneumothoraces x4. Pulmonary cysts 28y (first one) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047326
0000034764 parathyroid hyperpalsia 56y; Breast cancer 60y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047325
0000034765 abnormal secretory parathyroid gland 34y; Pancreastic mass. Unknown histology. Non functional 35y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047323
0000034766 cushing syndrome (implied pituitary origin) 10y; Hypercalcaemia (implied hyperparathyroidism) 31y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047324
0000034767 cutaneous malignant melanoma 65y; Breast cancer 69y; Ovarian cancer 69y; Colon cancer 74y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047322
0000034768 rectal carcinoma 27 y; Gastroesophageal adenocarcinoma 32y; Chromophobe renal cell carcinoma 32y; Facial fibrofolliculomas. neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048061
0000034769 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 ) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047315
0000034770 retinal haemangioma x2 21y; Cerebellar haemangioblastoma 41y Rectal carcinoma and multiple colonic polyps 41y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047327
0000034771 facial fibrofolliculomas neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048064
0000034772 renal cell carcinoma; Colorectal polyps; Multiple pneumothoraces neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048063
0000034773 pneumothorax 37y; Endometrial cancer 52y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048062
0000034774 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00048060
0000034775 café au lait patches multiple cutaneous neurofibromas and Axillary/inguinal freckling in childhood; Breast infiltrating duct carcinoma 35y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047872
0000034776 macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047871
0000035015 breast invasive ductal carcinoma 35y (MSI low. ERPR -ve) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047877
0000035016 primary hyperparathyroidism 13y; Pituitary tumour 15y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047859
0000035017 no features 6y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047858
0000035256 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 neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047857
0000035257 pituitary tumour 38y; Primary hyperparathyroidism 45y; Papillary thyroid cancer 46y; Medullary thyroid cancer 46y; Gastric carcinoid tumour 47y; Gastrinoma neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047856
0000035258 colon adenomas x5 48y (All MSI stable. Retained MSH6 expression) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen 00047863
0000038653 breast cancer 39y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047370
0000054402 Uterine myomas <65y; Meningioma <65y; Breast invasive ductal carcinoma. Multifocal 65y (Triple negative histology) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047864
0000186948 Prostate cancer 66y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047357
0000186949 Breast cancer 70y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047358
0000186950 Breast cancer 66y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047359
0000186951 Breast cancer 28y (No LOH BRCA1 or BRCA2) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047360
0000186952 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047361
0000186953 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047362
0000186954 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047363
0000186955 Breast infiltrating duct carcinoma 26y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047364
0000186956 Breast infiltrating duct carcinoma 33y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047365
0000186957 Breast cancer 37y; Breast cancer 39y; Ovarian cancer 63y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047366
0000186958 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047367
0000186959 Breast cancer 32y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047368
0000186960 Breast cancer 31y; Breast cancer (contralateral) 35y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047369
0000186961 Cervical cancer 26y; Breast cancer 40y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047371
0000186962 Ovarian papillary serous cystadenocarcinoma 40y (LOH BRCA2); Breast infiltrative ductal carcinoma 45y (LOH BRCA1 ) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047372
0000186963 Breast cancer. Ductal 28y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047373
0000186964 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047374
0000186965 Breast invasive lobular carcinoma 51y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047375
0000186966 Breast adenocarcinoma 35y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047376
0000186967 No tumours 49y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047377
0000186968 Breast ductal carcinoma 42y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047378
0000186969 No tumours 36y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047379
0000186970 Breast infiltrating duct carcinoma 37y (Triple negative histology) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047380
0000186971 Breast infiltrating duct carcinoma 26y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047381
0000186972 Breast infiltrating duct carcinoma 45y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047382
0000186973 Breast intraductal carcinoma 38y (Triple negative histology); Ovarian papillary adenocarcinoma. Bilateral 42y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047383
0000186974 Breast cancer 34y; Colorectal carcinoma. Transverse. (No loss of MMR proteins on IHC. No microsatellelite instability) 35y; Breast cancer 53y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047384
0000186975 No tumours 65y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047385
0000186976 Breast cancer <40y (LOH BRCA2 ) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047386
0000186977 Breast cancer 38y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047387
0000186978 Ovarian cancer 57y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047388
0000186979 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047389
0000186980 Breast cancer 45y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047390
0000186981 Breast cancer 48y; Ovarian cancer 50y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047391
0000186982 Breast cancer 39y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047392
0000186983 Breast cancer 41y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047393
0000186984 Breast cancer. Bilateral 34y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047394
0000186985 Breast cancer 55y; Breast cancer (contralateral) 56y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047395
0000186986 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047396
0000186987 Breast cancer 40y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047397
0000186988 Breast cancer 33y; Breast cancer (contralateral) 49y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047398
0000186989 No tumours 61y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047399
0000186990 Breast cancer. Multifocal lobular carcinoma 30y (LOH BRCA1 ); Ovarian cancer 41y (LOH BRCA1 and BRCA2 ) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047400
0000186991 Breast carcinoma. Metaplastic 43y (Triple negative histology) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047865
0000186992 Breast ductal cancer. Medullary type 30y (ERPR-ve); Ovarian serous papillary carcinoma 36y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047866
0000186993 Breast infiltrating duct carcinoma 2x foci 46y (1 lymph node ERPR -ve. 1 lymph node ERPR+ve) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047867
0000186994 Colorectal cancer. Caecal 58y; Ovarian cancer 61y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047873
0000186995 No tumours neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047874
0000186996 Breast infiltrating duct carcinoma 35y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047875
0000186997 Breast ductal carcinoma 52y (Triple negative histology); Ovarian serous adenocarcinoma. Bilateral 52y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth 00047876
0000201858 Colorectal carcinoma, 50y; Breast cancer, 57y - - Unknown - - - - - James Whitworth 00264000
0000201859 Fibrofolliculoma (multiple), 18y; Renal cell carcinoma, 53y - - Unknown - - - - - James Whitworth 00264001
0000201860 Phaeochromocytoma, 16y; Phaeochromocytoma, 35y. - - Unknown - - - - - James Whitworth 00264002
0000201861 GIST (gastric), 66y (Loss of SDHB immunostaining and LOH SDHA); Breast ductal carcinoma in situ, 70y - - Unknown - - - - - James Whitworth 00264003
0000201862 GIST (gastric), 34y (Loss of SDHB immunostaining and LOH SDHA) - - Unknown - - - - - James Whitworth 00264004
0000247298 - - Endometrial carcinoma Familial - 60y - - - James Whitworth 00329101
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