Disease #00764 (RCC (carcinoma, renal cell (RCC)))

Official abbreviation RCC
Name carcinoma, renal cell (RCC)
OMIM ID -
Inheritance -
Individuals reported having this disease 145
Phenotype entries for this disease 138
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

145 entries on 2 pages. Showing entries 1 - 100.
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00100332 25800244-FamProband PubMed: Hernandez 2015, Journal: Hernandez 2015 2-generation family, affected mother and 3 heterozygous carrier sons F ? Canada - - 0 - left adrenalectomy and partial nephrectomy pheochromocytoma, RCC multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son SDHB, TMEM127, VHL SDHB, TMEM127 2 4 Shahida Flores
00144922 - Journal: Qin 2014 - M ? ? (unknown) - - 0 - - RCC Clear cell, Malignant - - 0 1 Gustavo Armaiz-Pena
00144923 - Journal: Qin - F ? ? (unknown) - - 0 - - RCC Clear cell - - 0 1 Gustavo Armaiz-Pena
00144924 - Journal: Qin 2014 - M - ? (unknown) - - 0 - - RCC Clear cell - - 0 1 Gustavo Armaiz-Pena
00154398 - PubMed: Qin 2014 - ? - - - - 0 - - RCC - TMEM127 - 0 1 Gustavo Armaiz-Pena
00164787 - PubMed: Qin 2010 - M - - - - 0 - - RCC - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164793 - PubMed: Qin 2014 - M - - - - 0 - - RCC - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164794 - PubMed: Qin 2014 - F - - - - 0 - - RCC Breast Cancer TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164802 - PubMed: Qin 2014 - ? - - - - 0 - - RCC - TMEM127 - 0 1 Gustavo Armaiz-Pena
00165162 - PubMed: Gupta 2017 - ? - - - - 0 - - RCC - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00223158 - PubMed: van Slegtenhorst, 1997, PubMed: Ali, 1998 somatic variant on wild type allele found in renal cell carcinoma of TSC patient but not in germline; germline variant (c.1888_1891del) on mutant allele also found in this renal cell carcinoma; both mutations in exon 15 ? - - - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00224416 - PubMed: Voss, 2014 patient with advanced renal cell carcinoma; 2 TSC1 variants found in different sites within primary tumour; tissue from metastatic sites unavailable for analysis; NGS on Illumina HiSeq 2000; no known restriction site found for TSC1 c.1579C>T ? - - - - 0 - - RCC - TSC1 TSC1 2 1 Rosemary Ekong
00224417 - PubMed: Voss, 2014 patient with advanced renal cell carcinoma; the same somatic variant found in primary tumour and metastatic sites ? - - - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00224418 - PubMed: Voss, 2014 patient with advanced renal cell carcinoma; TSC1 and mTOR variants found in different sites within the primary tumour; tissue from metastatic sites unavailable for analysis; NGS on Illumina HiSeq 2000; no known restriction site found for the variant ? - - - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00224886 - PubMed: Kwiatkowski, 2016 48 yr old patient with metastatic RCC; metastasis to lung, liver, lymph node; progressive disease; did not respond to treatment with Temsirolimus F - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224888 - PubMed: Kwiatkowski, 2016 61 yr old patient with metastatic RCC; metastasis to lung; partial remission; responded to treatment with Everolimus M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224889 - PubMed: Kwiatkowski, 2016 51 yr old patient with metastatic RCC; metastasis to lung; partial remission; responded to treatment with Everolimus F - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224892 - PubMed: Kwiatkowski, 2016 49 yr old patient with metastatic RCC; progressive disease; did not respond to treatment with Temsirolimus F - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224893 - PubMed: Kwiatkowski, 2016 62 yr old patient with metastatic RCC; metastasis to lung; stable disease; responded to treatment with Everolimus M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224894 - PubMed: Kwiatkowski, 2016 53 yr old patient with metastatic RCC; metastasis to lung, liver, lymph node; stable disease; responded to treatment with Everolimus M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224895 - PubMed: Kwiatkowski, 2016 68 yr old patient with metastatic RCC; metastasis to lymph node, lung; partial remission; responded to treatment with Temsirolimus F - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224896 - PubMed: Kwiatkowski, 2016 64 yr old patient with metastatic RCC; stable disease; responded to treatment with Temsirolimus M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224897 - PubMed: Kwiatkowski, 2016 - M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00224898 - PubMed: Kwiatkowski, 2016 62 yr old patient with metastatic RCC; metastasis to liver; stable disease; responded to treatment with Everolimus M - (United States) - - 0 - - RCC metastatic RCC TSC1 TSC1 1 1 Rosemary Ekong
00266098 Case 1 PubMed: Parilla 2018 - F - United States - - 0 - - RCC single renal lesion (HP:0005584); sporadic eosinophilic solid and cystic (ESC) renal cell carcinoma (RCC); no evidence of metastasis TSC1, TSC2 TSC2 2 1 Rosemary Ekong
00266099 Case 2 PubMed: Parilla 2018 patient without significant medical history F - United States - - 0 - - RCC renal mass (HP:0005584); sporadic eosinophilic solid and cystic (ESC) renal cell carcinoma (RCC) TSC1, TSC2 TSC2 2 1 Rosemary Ekong
00274652 - PubMed: Wu 2019 positive family history; maternal grandfather with malignant tumor (not clear); patient had brain, bone and pleural metastasis; patient deceased 63 months after diagnosis F ? China - - 0 - - RCC clear cell renal cell carcinoma (HP:0006770) BAP1, TSC2 BAP1, TSC2 2 1 Rosemary Ekong
00274653 - PubMed: Wu 2019 no family history of renal tumours; patient alive and no recurrence at last examination F ? China - - 0 - - RCC chromophobe renal cell carcinoma (ChRCC) BRCA2, TSC2 BRCA2, TSC2 3 1 Rosemary Ekong
00274654 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00274655 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00274656 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00274657 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC1 TSC1 1 1 Rosemary Ekong
00274658 - PubMed: Wu 2019 no family history of renal tumours; patient deceased 26 months after diagnosis M ? China - - 0 - - RCC renal angiomyolipoma (HP:000677) TSC1 TSC1 1 1 Rosemary Ekong
00274659 - PubMed: Wu 2019 no family history of renal tumours; patient had metastasis in lung; patient is alive at last examination M ? China - - 0 - - RCC clear cell renal cell carcinoma (HP:0006770) TSC1 TSC1 1 1 Rosemary Ekong
00274660 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC2 TSC2 1 1 Rosemary Ekong
00274661 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC2 TSC2 1 1 Rosemary Ekong
00274662 - PubMed: Wu 2019 patient had recurrence; patient deceased 58 months after diagnosis F ? China - - 0 - - RCC renal angiomyolipoma (HP:000677); Ovarian teratoma (HP:0012226) TSC2 TSC2 1 1 Rosemary Ekong
00274663 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC2 TSC2 1 1 Rosemary Ekong
00274664 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC2 TSC2 1 1 Rosemary Ekong
00274665 - PubMed: Wu 2019 - ? ? China - - 0 - - RCC - TSC2 TSC2 1 1 Rosemary Ekong
00274666 - PubMed: Wu 2019 positive family history of cancers; grandfather with lung cancer, father with gastric cancer; patient deceased 13 months after diagnosis M ? China - - 0 - - RCC clear cell renal cell carcinoma (HP:0006770) TSC2 TSC2 1 1 Rosemary Ekong
00283440 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283441 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283442 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283443 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283445 - PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283446 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283447 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283448 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283451 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283455 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283456 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283457 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283459 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283461 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283465 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283466 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283468 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283469 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283470 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283471 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283473 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283475 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283476 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283477 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283478 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283480 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283481 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283482 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283483 - PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Johnston 2012 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283485 - PubMed: Krishnaswamy 2009, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Raikes 1976 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283488 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283489 - PubMed: Bean 2013, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283491 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283492 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283494 - PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283495 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283497 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283500 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283504 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283506 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283509 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283510 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283511 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283512 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283514 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283515 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283516 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283517 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283522 - PubMed: Bodian 2014, PubMed: Knoll 1979, PubMed: Reaume 2013, PubMed: Hampel 2015 0, 2, - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283523 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283524 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283525 - PubMed: Bodian 2014, PubMed: Hampel 2015, PubMed: Reaume 2013 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283527 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283528 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283531 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283532 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283533 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283535 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
00283536 - PubMed: Reaume 2013, PubMed: Hampel 2015 - - - - - - 0 - - RCC - MET MET 1 1 Global Variome, with Curator vacancy
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