SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation I1370K

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Familial Factors in the Development of Colon Cancer

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer. PURPOSE: Clinical trial to study the cancer-related genes in patients who have colon cancer or adenomatous polyps.

NCT00055848 Colorectal Cancer Genetic: cytogenetic analysis Genetic: gene mapping Genetic: microarray analysis
MeSH: Colorectal Neoplasms Colonic Neoplasms
HPO: Colon cancer Neoplasm of the colon Neoplasm of the large intestine

DISEASE CHARACTERISTICS: - Diagnosis of colon cancer or polyps at age 70 or under - Has a living full sibling with diagnosis of colon cancer or polyps at age 70 or under - No history of familial adenomatous polyposis syndrome - No hereditary nonpolyposis colon cancer, according to Amsterdam criteria - No known I1370K adenomatous polyposis of the colon susceptibility variant - Enrolled on 1 of the following clinical trials: - CLB-9581 - CLB-89803 - CLB-80001 NOTE: Patients do not need to be receiving protocol therapy. --- I1370K ---

PATIENT CHARACTERISTICS: Age - 70 and under at diagnosis Other - No significant psychiatric illness that would preclude giving informed consent - No inflammatory bowel disease (in patient or sibling) DISEASE CHARACTERISTICS: - Diagnosis of colon cancer or polyps at age 70 or under - Has a living full sibling with diagnosis of colon cancer or polyps at age 70 or under - No history of familial adenomatous polyposis syndrome - No hereditary nonpolyposis colon cancer, according to Amsterdam criteria - No known I1370K adenomatous polyposis of the colon susceptibility variant - Enrolled on 1 of the following clinical trials: - CLB-9581 - CLB-89803 - CLB-80001 NOTE: Patients do not need to be receiving protocol therapy. --- I1370K ---



HPO Nodes


Colon cancer
Genes 39
FOXE1 PMS1 APC MLH1 CDKN2A KRAS PRKAR1A FLCN TGFBR2 MSH6 COL14A1 RPS19 BMPR1A HABP2 PMS2 MSH2 MSH3 MLH3 GREM1 MINPP1 BRCA1 BUB3 BRCA2 CEP57 AAGAB TRIP13 EPCAM PIK3CA PALLD NTHL1 PALB2 MUTYH TP53 AXIN2 SMAD4 BUB1 SH3KBP1 BUB1B FAN1
Neoplasm of the large intestine
Genes 71
FOXE1 PMS1 CDKN2A KRAS MST1 TGFBR2 STK11 MSH6 TCF4 BMPR1A PMS2 KLLN MLH3 DLC1 NRAS BRCA1 BRCA2 PDGFRA DOCK8 PIK3CA GPR35 POLD1 NTHL1 POLE SRC BUB1 SH3KBP1 BUB1B CHEK2 APC MLH1 PRKAR1A FLCN COL14A1 AKT1 RPS19 RPS20 HABP2 MSH2 FGFR3 MSH3 KEAP1 GREM1 MINPP1 SEMA4A CTNNB1 DCC BUB3 PTEN MDM2 CEP57 ENG AAGAB TRIP13 KIT EPCAM DICER1 RNF43 PALLD EP300 PALB2 SEC23B MUTYH SDHA TP53 SDHB SDHC SDHD AXIN2 SMAD4 FAN1