SNPMiner Trials by Shray Alag

L858R (332) T790M (322) V600E (266) T315I (107) L861Q (92) M184V (68) V617F (58) K65R (53) G20210A (53) V600K (52) C282Y (50) V66M (49) G551D (42) P13K (39) C677T (35) A118G (29) I84V (27) V158M (26) H63D (25) V32I (24) S768I (24) I50V (23) I47V (21) K103N (21) K27M (20) Y181C (20) L33F (19) T380A (18) L76V (18) G12C (18) D842V (18) R117H (17) D816V (17) S1251N (17) S1255P (17) G178R (17) G1244E (17) S549R (17) G1349D (17) V82A (16) M41L (16) S549N (16) C3435T (16) G551S (16) Q151M (16) Q12H (15) K219Q (15) I54L (15) K70E (14) C797S (14) G719A (13) L90M (13) L74V (13) E138A (13) D67N (13) K70R (13) L89V (13) L210W (13) Y188L (13) G11778A (12) P4503A (12) L265P (12) M46I (12) I54M (12) G12D (12) E255K (12) V11I (12) R132H (12) G48V (11) V299L (11) D961H (11) T74P (11) R192G (11) T25W (10) K101E (10) G2677T (9) V106A (9) G12V (9) M184I (9) H221Y (9) V30M (9) Y253H (9) V600D (9) G1691A (8) F317L (8) F227C (8) T215Y (8) I50L (8) A1298C (8) L100I (8) I148M (7) N155H (7) F359C (7) S298P (7) G190A (7) M230I (7) C1236T (7) V600R (7) Y188C (7) G2019S (7) Q12W (6) P225H (6) Y93H (6) V108I (6) A3243G (6) G93A (6) G73S (6) P12A (6) Y115F (6) E545K (6) Q148H (6) Y537S (6) E542K (6) I10A (6) M230L (6) H1047R (6) N40D (6) D299G (6) N236T (6) D30N (6) M235T (6) T315A (6) D538G (6) T87Q (5) I47A (5) L74I (5) E92Q (5) N680S (5) A455E (5) M204V (5) D1152H (5) L755S (5) G13D (5) G190S (5) N363S (5) A181V (5) V179L (5) L24I (5) N88S (5) A2143G (5) T399I (5) M36I (5) F53L (5) R263K (5) R132C (5) V777L (5) T1405N (4) D579G (4) G719C (4) N370S (4) R117C (4) Q16W (4) L98H (4) A98G (4) K20M (4) E138G (4) E138K (4) L31M (4) E157Q (4) L10F (4) Q80K (4) C31G (4) G1202R (4) Q252H (4) L206W (4) P140K (4) C19P (4) I54V (4) K76T (4) Y537C (4) I1314L (4) S945L (4) Y402H (4) P1446A (4) V179D (4) N88D (4) A6986G (4) A1166C (4) G970R (4) Y181I (4) R352Q (4) G2385R (4) S310F (4) P67L (4) R1070W (4) G140A (4) E23K (4) S463P (4) T14484C (3) G719S (3) R206H (3) S1400A (3) S1400I (3) A71V (3) C134W (3) R24W (3) C481S (3) T24H (3) V122I (3) T47D (3) A636P (3) S977F (3) G118R (3) G3460A (3) N312S (3) D988Y (3) L444P (3) V659E (3) V769L (3) A147T (3) E10A (3) Q24W (3) L861R (3) R678Q (3) Q27E (3) E17K (3) Q148R (3) A1555G (3) S49G (3) Y537N (3) R16G (3) I10E (3) V158F (3) G21210A (3) K55R (3) V205C (3) Y181V (3) A2142G (3) R506Q (3) E298D (3) L211A (3) R172K (3) V843I (3) Y143R (3) R572Y (3) G143E (3) G1321A (3) V842I (3) H295R (3) G140S (3) T60A (3) P23H (3) F11N (2) S1009A (2) H275Y (2) T733I (2) F1074L (2) I1307K (2) Q36W (2) G250E (2) S77Y (2) E28A (2) E28C (2) E28D (2) T66A (2) S1400C (2) S1400E (2) S1400D (2) L833F (2) D1790G (2) S1400G (2) S1400F (2) R334W (2) L8585R (2) I105V (2) N375S (2) V560G (2) A194T (2) T20S (2) T69D (2) T69S (2) Y93C (2) E138R (2) E138Q (2) F359V (2) R776H (2) Q422H (2) D110H (2) D110E (2) R753Q (2) R404C (2) C283Y (2) L31F (2) S252W (2) L460D (2) L33I (2) R140W (2) R140L (2) R140Q (2) V106I (2) V106M (2) E709K (2) V697L (2) P50I (2) P535H (2) P51S (2) G1314A (2) S492R (2) G308A (2) V191T (2) G71R (2) T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) T128N (2) L536R (2) L536Q (2) L536P (2) A143T (2) T97A (2) G3556C (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) L180M (2) W153Q (2) G193E (2) V173L (2) F876L (2) R479H (2) L82M (2) Q28D (2) G190E (2) R347H (2) K601E (2) G16R (2) R831C (2) G5271C (2) V75I (2) G681A (2) A270S (2) L63P (2) L869R (2) P236L (2) R831H (2) T13D (2) H1047L (2) C3670T (2) V34L (2) E255V (2) G469A (2) V57I (2) L144F (2) M233I (2) C825T (2) C8092A (2) G776C (2) G776V (2) F121Y (2) R172S (2) R172W (2) R172M (2) Q192R (2) R172G (2) E380Q (2) F166L (2) A200V (2) Y121F (2) G145R (2) K101P (2) R61C (2) V600M (2) F31I (2) K540E (2) K103H (2) R132V (2) D1270N (2) R1628P (2) R132S (2) V534E (2) R132G (2) R132L (2) V207I (2) K238N (2) G4655A (2) S112A (2) I169T (2) I84A (2) Y129S (1) G1388A (1) S77F (1) R20A (1) V140A (1) C686A (1) I1768V (1) E25K (1) K652E (1) C420R (1) S9304A (1) R337H (1) C421A (1) V189I (1) K304E (1) A7445G (1) D19H (1) L304P (1) Y454S (1) A133S (1) M9T (1) P596L (1) E318D (1) C1156Y (1) N171K (1) A7445C (1) V82F (1) G47A (1) R447H (1) G47E (1) V82L (1) R776C (1) A92T (1) E27Q (1) F1052V (1) P27A (1) A289T (1) L523S (1) H54Y (1) T1095C (1) S428F (1) R400C (1) D313Y (1) Q12M (1) R139C (1) A393T (1) W719R (1) T862I (1) T66K (1) T66I (1) G49A (1) R48G (1) H58C (1) D203E (1) I104F (1) K656E (1) T40S (1) D312N (1) L747P (1) G276T (1) L747S (1) R200W (1) I1171N (1) Q14D (1) S1400K (1) R115G (1) F17L (1) A71T (1) S339F (1) A71L (1) I431V (1) F317V (1) F317S (1) G20201A (1) F317C (1) G2545R (1) C377T (1) P243R (1) S9346A (1) R25L (1) L528M (1) Q222R (1) I22M (1) I107M (1) C1858T (1) L859R (1) G2032R (1) A859S (1) G389D (1) V148I (1) K65E (1) V148G (1) C242T (1) G389R (1) H369P (1) A98S (1) G2500A (1) I349V (1) I107V (1) V561D (1) C481R (1) L833V (1) P200T (1) G1051A (1) Y93F (1) Y414C (1) Y1248H (1) K65N (1) L74M (1) P4502C (1) Y1248C (1) Y1248D (1) F227R (1) V89L (1) T164I (1) H1124D (1) C94A (1) G1628A (1) A2215D (1) E200K (1) F227L (1) I305F (1) N682S (1) T1010I (1) I655V (1) R885H (1) G7444A (1) R776G (1) E354Q (1) A21443C (1) M351T (1) R620W (1) A54T (1) D594G (1) F311L (1) T49A (1) F116Y (1) H870R (1) G205S (1) E355G (1) R535H (1) I767M (1) L55M (1) E571K (1) L55R (1) M2540A (1) E92K (1) G238A (1) L838P (1) E6V (1) L814P (1) K509I (1) V21I (1) G699A (1) V167F (1) D949V (1) L33P (1) M66V (1) D61804R (1) R849W (1) V762A (1) D816H (1) V108M (1) V326L (1) V411L (1) L10D (1) L58H (1) E158K (1) N334K (1) A1067T (1) S1800A (1) G894T (1) G202A (1) C282T (1) I191V (1) G435A (1) K1060T (1) A10H (1) R272G (1) V654A (1) V106T (1) C1091T (1) I638F (1) P317R (1) V433M (1) S230R (1) N550H (1) R4E (1) P1058A (1) M244V (1) N550K (1) E709Q (1) G304A (1) T124A (1) S253N (1) M680I (1) G1316A (1) M552V (1) M552I (1) R182H (1) D835V (1) A871E (1) D835Y (1) A677G (1) C1950G (1) H1505R (1) A893S (1) L597Q (1) S2808A (1) N55H (1) K28M (1) D89E (1) A38G (1) L485W (1) M9346A (1) L159F (1) A437G (1) R92Q (1) V29C (1) L38V (1) G135C (1) A677V (1) C34T (1) G93R (1) R270H (1) V321A (1) C10D (1) G308V (1) R122W (1) D614G (1) H2507Q (1) D20W (1) G309A (1) G721A (1) G309E (1) I90P (1) C59R (1) C416R (1) G71A (1) Q61R (1) Q61L (1) H835L (1) R498L (1) V941L (1) Q62E (1) R389G (1) D769N (1) G156A (1) E1784K (1) G98T (1) Q65E (1) T92A (1) S239D (1) C656G (1) R451C (1) G73C (1) G5665T (1) R72P (1) F64L (1) L248R (1) M204I (1) R149S (1) A105G (1) M28L (1) D769Y (1) V769M (1) R75T (1) E193K (1) T890M (1) P250R (1) P58A (1) L532S (1) S147G (1) S1235R (1) K660E (1) T454A (1) R76K (1) L1213V (1) V742I (1) V1238I (1) R74W (1) T102C (1) K3048A (1) T93M (1) D961S (1) G1269A (1) R277W (1) P187S (1) Q20W (1) A561P (1) V740A (1) T783I (1) T674I (1) T783A (1) S8814A (1) V90I (1) C325G (1) Q188R (1) R30H (1) C785T (1) S100A (1) R496L (1) G174S (1) L798F (1) V765A (1) P11A (1) C18S (1) L798H (1) G1049R (1) V765M (1) S366T (1) R230C (1) G1376T (1) H396R (1) H396P (1) S65D (1) T1191I (1) A277G (1) L755A (1) H131R (1) T878A (1) T854A (1) P253R (1) C1494T (1) L755P (1) P120H (1) E525K (1) C102T (1) Y1253D (1) G196A (1) A145T (1) K70N (1) L861G (1) H43R (1) I76V (1) C344T (1) F1174V (1) R677W (1) S9313A (1) I112T (1) G10V (1) R10C (1) F1174L (1) R10A (1) K860I (1) R34P (1) F1174C (1) R108K (1) I112M (1) V151I (1) I332E (1) S1369A (1) R32Q (1) N409S (1) C563T (1) Q24H (1) I113T (1) D761Y (1) N291S (1) Y114C (1) V151A (1) G34A (1) G1069R (1) R896C (1) S567L (1) A827G (1) G12S (1) I54T (1) D565H (1) Y113H (1) P367L (1) R102G (1) R368H (1) M3002A (1) P125A (1) V282M (1) M1040E (1) E545G (1) E545A (1) G398A (1) E545D (1) G12A (1) L409P (1) S1787N (1) S784P (1) L841V (1) R14C (1) V943A (1) S9333A (1) Q148K (1) Q148E (1) M1043I (1) Y220C (1) T416P (1) A3669G (1) R38H (1) T961C (1) V1110L (1) T961G (1) L84F (1) S108N (1) C365Y (1) A719G (1) D237E (1) G37R (1) D104N (1) S653C (1) S786I (1) V834I (1) Y376C (1) G3514C (1) G594A (1) G1947A (1) G190C (1) V834L (1) Q546R (1) F522C (1) Q546L (1) Q546K (1) P699S (1) F2004L (1) D101H (1) T393C (1) A1330T (1) R988C (1) H48Q (1) T174M (1) A62V (1) G595R (1) A62T (1) L84V (1) M165I (1) V222A (1) P479L (1) G908R (1) Y318F (1) V75M (1) D101Y (1) I10F (1) D90V (1) H1112L (1) G269S (1) R3500Q (1) V30A (1) S282R (1) D919G (1) I665V (1) H1112Y (1) D90A (1) C385A (1) M95L (1) G1170S (1) V244M (1) G17T (1) S26E (1) N251K (1) W574C (1) G464V (1) C807T (1) V77I (1) Y449D (1) C168H (1) D4064A (1) M50I (1) Q215S (1) F106C (1) K56M (1) G465R (1) G598V (1) S769N (1) E586K (1) T1482I (1) L1196M (1) E148Q (1) T12W (1) S720P (1) Y641S (1) S768R (1) F129L (1) Y641N (1) C938A (1) C165V (1) R19C (1) C383R (1) Y641H (1) C805S (1) Y641F (1) W64R (1) Y641C (1) H1047Y (1) M1268T (1) A736V (1) C61G (1) P1009S (1) V481F (1) S1612C (1) Q546E (1) L718P (1) V179F (1) G106R (1) M1002A (1) P300D (1) S131F (1) N63L (1) W21C (1) L144S (1) M1149T (1) H558R (1) S373C (1) A69S (1) V1180L (1) V774A (1) T377M (1) V689M (1) V774M (1) D164V (1) L387M (1) R199W (1) N86S (1) M694V (1) N86Y (1) G11053T (1) R175H (1) T17M (1) Y86N (1) A2144G (1) A2059G (1) N345K (1) D50W (1) I180V (1) A864V (1) L24E (1) V118I (1) G212S (1) I843S (1) N1303K (1) R1623Q (1) A1033V (1) L1198F (1) N1325S (1) Q812R (1) V773M (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G1631D (1) G211A (1) D76Y (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) L101I (1) A2143C (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900E (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) R702W (1) T1456G (1) T1565C (1) E1021K (1) K15210D (1) G779C (1) G82S (1) G779F (1) G840A (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) L28P (1) H180Q (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) G60D (1) R352W (1) G623R (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) V736A (1) L432V (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) Y143H (1) G86R (1) Y143C (1) R112H (1) Y143A (1) A227G (1) K101Q (1) R463C (1) G85E (1) L236P (1) A310V (1) T798M (1) S310Y (1) R222C (1) A4917G (1) T798I (1) E44D (1) L302P (1) Q30R (1) L786V (1) R287Q (1) P286R (1) D36Y (1) R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) P46L (1) N700D (1) A5147S (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) R1070Q (1) C316N (1) T81C (1) T1304M (1) I167V (1) I82A (1) D13H (1) Q54H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) A222V (1) L106V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) C1895T (1) P392L (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G71R

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Phase I Clinical Trial to Investigate the Correlation Between UGT1A1 Genotype and Irinotecan (CPT-11) Pharmacokinetics and Toxicity in Cancer Patients

Phase I trial to study genetic testing and the effectiveness of irinotecan in treating patients who have solid tumors and lymphoma. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Genetic testing for a specific enzyme may help doctors determine whether side effects from or response to chemotherapy are related to a person's genetic makeup

NCT00003970
Conditions
  1. AIDS-related Peripheral/Systemic Lymphoma
  2. AIDS-related Primary CNS Lymphoma
  3. Anaplastic Large Cell Lymphoma
  4. Angioimmunoblastic T-cell Lymphoma
  5. Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue
  6. Intraocular Lymphoma
  7. Nodal Marginal Zone B-cell Lymphoma
  8. Primary Central Nervous System Non-Hodgkin Lymphoma
  9. Recurrent Adult Burkitt Lymphoma
  10. Recurrent Adult Diffuse Large Cell Lymphoma
  11. Recurrent Adult Diffuse Mixed Cell Lymphoma
  12. Recurrent Adult Diffuse Small Cleaved Cell Lymphoma
  13. Recurrent Adult Hodgkin Lymphoma
  14. Recurrent Adult Immunoblastic Large Cell Lymphoma
  15. Recurrent Adult Lymphoblastic Lymphoma
  16. Recurrent Adult T-cell Leukemia/Lymphoma
  17. Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma
  18. Recurrent Grade 1 Follicular Lymphoma
  19. Recurrent Grade 2 Follicular Lymphoma
  20. Recurrent Grade 3 Follicular Lymphoma
  21. Recurrent Mantle Cell Lymphoma
  22. Recurrent Marginal Zone Lymphoma
  23. Recurrent Mycosis Fungoides/Sezary Syndrome
  24. Recurrent Small Lymphocytic Lymphoma
  25. Small Intestine Lymphoma
  26. Splenic Marginal Zone Lymphoma
  27. Stage III Adult Burkitt Lymphoma
  28. Stage III Adult Diffuse Large Cell Lymphoma
  29. Stage III Adult Diffuse Mixed Cell Lymphoma
  30. Stage III Adult Diffuse Small Cleaved Cell Lymphoma
  31. Stage III Adult Hodgkin Lymphoma
  32. Stage III Adult Immunoblastic Large Cell Lymphoma
  33. Stage III Adult Lymphoblastic Lymphoma
  34. Stage III Adult T-cell Leukemia/Lymphoma
  35. Stage III Cutaneous T-cell Non-Hodgkin Lymphoma
  36. Stage III Grade 1 Follicular Lymphoma
  37. Stage III Grade 2 Follicular Lymphoma
  38. Stage III Grade 3 Follicular Lymphoma
  39. Stage III Mantle Cell Lymphoma
  40. Stage III Marginal Zone Lymphoma
  41. Stage III Mycosis Fungoides/Sezary Syndrome
  42. Stage III Small Lymphocytic Lymphoma
  43. Stage IV Adult Burkitt Lymphoma
  44. Stage IV Adult Diffuse Large Cell Lymphoma
  45. Stage IV Adult Diffuse Mixed Cell Lymphoma
  46. Stage IV Adult Diffuse
  47. Stage IV Adult Diffuse Small Cleaved Cell Lymphoma
  48. Stage IV Adult Hodgkin Lymphoma
  49. Stage IV Adult Immunoblastic Large Cell Lymphoma
  50. Stage IV Adult Lymphoblastic Lymphoma
  51. Stage IV Adult T-cell Leukemia/Lymphoma
  52. Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma
  53. Stage IV Grade 1 Follicular Lymphoma
  54. Stage IV Grade 2 Follicular Lymphoma
  55. Stage IV Grade 3 Follicular Lymphoma
  56. Stage IV Mantle Cell Lymphoma
  57. Stage IV Marginal Zone Lymphoma
  58. Stage IV Mycosis Fungoides/Sezary Syndrome
  59. Stage IV Small Lymphocytic Lymphoma
  60. Unspecified Adult Solid Tumor, Protocol Specific
Interventions
  1. Drug: irinotecan hydrochloride
MeSH:Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome
HPO:Anaplastic large-cell lymphoma B-cell lymphoma Burkitt lymphoma Chronic lymphatic leukemia Cutaneous T-cell lymphoma Hodgkin lymphoma Leukemia Lymphoma Non-Hodgkin lymphoma T-cell lymphoma

Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome OBJECTIVES: I. Classify patients with solid tumors or lymphoma according to UGT1A1 promoter (TATA box) and coding region (Gly71Arg) mutation, and CYP3A4 promoter (G to A) polymorphisms. --- Gly71Arg ---

The DNA is analyzed for the UGT1A1 coding region mutation (Gly71Arg) and CYP3A4 promoter polymorphism. --- Gly71Arg ---

Primary Outcomes

Description: A Cochran-Armitage test for trend will be used to determine whether there is a linear trend in the proportion of patients within each genotype experiencing grade 3-4 diarrhea. Similarly, trend analysis will be performed to determine if there is a linear trend in the proportion of patients within each phenotype experiencing grade 3-4 myelosuppression. Genotype (3 ordered levels) will be modeled as a function of metabolic ratios and biliary index to determine whether these are independent.

Measure: Grade 3-4 diarrhea

Time: Up to 4 years

Secondary Outcomes

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent.

Measure: Genotype

Time: Up to 4 years

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent. Modeled as a function of metabolic ratios and biliary index.

Measure: Phenotype

Time: Up to 4 years

2 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960
Conditions
  1. Spinal Muscular Atrophy
  2. Neonatal Hyperbilirubinemia
  3. Colon Cancer
MeSH:Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
HPO:Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---



HPO Nodes


HP:0003202: Skeletal muscle atrophy
Genes 761
ASCC1 ACTA1 SLC16A2 CHRNA1 FBXO38 NUP88 GYG1 WASHC5 SCYL1 HSPG2 BAG3 AIFM1 CUL4B BBIP1 SGCG TRAPPC11 CPLANE1 WARS2 GJB1 TMEM43 INSR ERCC6 NEB COL7A1 HNRNPA2B1 POMT1 ANO5 PHF6 PUS1 PHGDH COL6A2 DNM2 FKRP NEFL CHRNE STIM1 YY1 IFT172 RRM2B MME LZTFL1 ATXN3 MAFB TCF4 LMNA HUWE1 AARS1 TMEM43 DNM1L GAN C9ORF72 MFN2 PSAT1 LMNA HINT1 RPS6KA3 SVBP MPZ PIEZO2 SYNE1 BBS10 PLEC DCTN1 COL6A1 DOK7 LMOD3 CPT1C FKRP ABHD12 TTC8 NEFL SPAST SIGMAR1 ATL1 DCTN1 CAPN1 NEB LAMB2 PMP22 KLHL41 HSPB1 TBK1 CCT5 SGCD VAPB PNKP MORC2 EMD DES MUSK MCCC2 HINT1 SMCHD1 MYH7 POLG GNAS FARS2 RXYLT1 SMN1 PEX10 DCTN1 HSPB1 VCP CHRNA1 ATP7A SEPTIN9 RYR1 FLVCR1 LRSAM1 TRIM32 IGHMBP2 SLC39A13 BIN1 COL12A1 COLQ MDH2 KLHL41 COL6A1 SQSTM1 DYSF SLC33A1 SDHAF1 CCDC115 SLC12A6 C8ORF37 TK2 RYR1 TARDBP NEB MATR3 SPG11 DYSF GLB1 SGCD SOX10 BBS4 SLC7A7 COL6A2 TTC19 ARL6 TPM2 DAG1 FGD4 DALRD3 CHRNE SELENON AK9 ACTA1 NPHP1 GNE SLC5A7 PHKA1 CHRNB1 IFT27 PHKG2 NDUFAF6 SMN2 COL13A1 AGL SPTLC1 PRPH COQ2 CAPN1 PYGM PFN1 GLE1 SIL1 AIFM1 VMA21 ERCC8 NAGA COL6A2 PRKAR1A CHRNB1 PNPT1 MYOT ALS2 C12ORF65 TFG VPS13A LDB3 NAGA ADK NGLY1 ATXN1 KLHL40 EGR2 TNNT1 NEFH TGFB1 DARS2 COASY PDE8B SMN1 PNKP ATP8 MATR3 PMP22 ALDH18A1 ATXN3 DNM1L PIP5K1C USP8 AFG3L2 FHL1 COL12A1 POMGNT2 VAPB PRPS1 WDPCP NEFH SLC52A2 LMNA BBS9 ALS2 SALL4 ANG ZC4H2 KAT6A STING1 PMP22 TPM2 SIL1 CCNF TTN MTAP CHN1 COL6A3 GLE1 ADSL MPZ AP1S2 GJB1 MECP2 C19ORF12 GDAP1 SLC25A19 ZBTB20 PNPLA6 RBM28 SCN9A VCP MAG MME ACADSB TTN TPM3 WDR81 HNRNPA2B1 VCP NUP88 BIN1 TRAPPC11 VAMP1 MECP2 MPZ PLP1 FKTN POLR3A ARSI ADSS1 C9ORF72 REEP1 SACS FKBP14 FBXL4 MPZ CAPN3 CYP7B1 GDAP1 BVES TRIM32 RYR1 CAPN3 SPART NOP56 TBCD NDUFA12 ATXN1 ZFYVE26 ERBB4 ERLIN2 CTLA4 DAO CA8 LMNA SLC9A6 SDCCAG8 SLC5A7 CHRND VCP RETREG1 DOK7 KANSL1 TRPV4 SCN4A ERLIN1 TNNT1 SCN4A LAMP2 SQSTM1 LEMD3 RNASEH1 BBS7 TTN REEP1 COG7 CHCHD10 TBC1D23 PLEC MPZ DNAJB2 EPHA4 CHCHD10 CHMP2B TIA1 DYSF KLC2 PEX7 TBCD DMD KIF1C IBA57 PYCR2 TPM3 MGME1 DGUOK FRG1 STUB1 MTMR2 NDUFS4 MYBPC1 AGRN SQSTM1 TAF15 BSCL2 SYNE2 TNXB CNTNAP1 C19ORF12 TBCE SPG11 ATP8A2 OPTN CARS1 POLG ACTN2 VAPB MTM1 PLOD3 SLC18A3 PHYH SLC25A21 SMCHD1 ERGIC1 MYOT CHMP2B C12ORF65 SPEG LIMS2 BMP1 MYMK GLE1 SQSTM1 GARS1 VAMP1 CAPN3 WRN CPT1C ALDH18A1 TRNL1 FKBP14 AFG3L2 POMT2 UNC13A DGUOK AIFM1 ACTA1 TTN PDK3 SYT2 RBM28 TBK1 SIGMAR1 GBA2 PFN1 RAPSN ATM PTRH2 CHRND TARDBP TTPA TUBB2B STAC3 CRPPA PEX5 YARS2 SLC46A1 PDE11A RAI1 BSCL2 CHP1 ERLIN2 POMT1 ACTB POMT1 C12ORF65 ACTA1 COL6A2 LMNB2 COL6A2 PON2 VPS13A SCO2 RRM2B CEP126 SYNE2 FKTN ATXN2 REV3L TARDBP INPP5K SPG11 TGFB1 CTNS DCAF8 PNPLA2 TTN TNFRSF1B PNKP TBK1 ATXN3 SDHB RNASEH1 RYR1 TPI1 NOP56 MKKS POLR2A GJB1 KLHL41 LMNA CD59 PAX7 CHCHD10 FLNC BICD2 COA7 HMGA2 TPM3 FIG4 NEB TPM3 GARS1 DOK7 MKS1 DARS2 ATAD3A SPART NEU1 PRUNE1 BBS1 MPV17 SELENON B3GALNT2 PSMB8 COL6A3 MPZ UBA1 PYROXD1 BICD2 POLG FKTN SOD1 COL4A1 FHL1 ATL1 C9ORF72 PNPLA6 WNK1 FARS2 DNA2 MST1 FAM126A KIF1A TK2 FUS SLC18A3 MED25 MYOT NDUFA9 ANTXR2 COL6A1 NDE1 FXN NDRG1 MUSK FAM111B FLRT1 SLC33A1 TRIP4 FIG4 GARS1 OPA1 JPH1 SMN1 KLC2 MUSK HSPB3 LMNA FKRP HEXB TFG ITGA7 PNPLA6 FLNC INSR TNXB MYPN TK2 DHTKD1 SYNE1 SUCLA2 STAC3 CFAP410 MFN2 MPZ EGR2 PEX6 PRX KIF1A ABCA1 OGDH GFPT1 LARGE1 CHRNE PIK3R2 DNMT3B TYMP MAP3K20 KCNK9 CHRNB1 GLE1 PON1 HNRNPA1 COG8 SUCLG1 ALDH18A1 ACTA1 AMPD2 GBE1 FLNA NBN GNE PLXND1 ZC4H2 GDAP1 LTBP4 TRNE NEU1 B4GALNT1 ACTA1 LMNA PLEKHG5 COL2A1 ATXN2 B4GALNT1 HARS1 B4GALT7 PUS1 KY KDM5C KIF1B PMP22 SDHD TIA1 ANO5 SLC25A4 CHAT ADARB1 TCAP REEP1 SURF1 APTX TBCE RAB7A SLC25A1 ANO5 FBLN5 LEMD3 VRK1 YARS2 MPZ TIA1 KIF5A AMPD2 RTN2 B4GAT1 DMPK TRPV4 LRP4 SGCA MYH7 ZFYVE26 GDAP1 PTEN GLT8D1 KBTBD13 MGME1 ASAH1 VCP WARS2 MYH7 CHRNG ERLIN1 BBS5 FITM2 TDP1 HK1 BSCL2 MYH7 MYPN MYO9A ACADM KANSL1 RYR1 MRE11 COL13A1 OPA1 ANG REEP1 DNAJC19 POMGNT1 ANXA11 SACS SBF2 CRPPA FUS MYOD1 PRX NIPA1 COL6A3 TRAPPC11 SMN1 KIF1C HSPB8 PHKA2 BICD2 POMK CAV3 CPT1A UBQLN2 VPS13D NEFH ERBB3 EXOSC8 NALCN PON3 ATAD3A ATXN3 SLC52A3 SYNE1 PMP22 VCP SLC16A2 DUX4 COL6A3 PRKACA CD28 KY RAPSN INF2 FRG1 MYH14 TDP1 ENTPD1 YARS1 HNRNPA1 DYNC1H1 PNPLA6 KLHL9 MSTO1 TPM2 TBCK DMD VLDLR AGRN DAG1 MYMK SH3TC2 NEK1 SYT2 CEP290 TREM2 GDAP1 PGAP1 AP1S2 EGR2 MFN2 PPARGC1A BBS12 SQSTM1 MYH3 HSPG2 GFPT1 NARS2 GMPPB KIF1A SOD1 SLC52A2 IFRD1 LRP12 BBS2 TPI1 PFKM BSCL2 SFXN4 LMOD3 DYSF PLP1 MPZ ASAH1 SNAP25 AR ALS2 GPR35 CRPPA ATL1 ADSS1 PMP22 ERGIC1 PYCR2 EXOSC3 CRPPA FUS LITAF VCP SPTBN4 FUS HNRNPA1 AIP AGTPBP1 C19ORF12 SPRTN SETX SGCB TOE1 SLC39A13 PRPH CCT5 SETX GARS1 COL6A1 SELENON HNRNPDL TRPV4 POMT2 TRPV4 HARS1 DHH SDHA
Protein Mutations 1
G71R
SNP 0