Ignite Creation Date:
2024-05-06 @ 5:25 PM
Last Modification Date:
2024-10-26 @ 2:28 PM
Study NCT ID:
NCT05305001
Status:
COMPLETED
Last Update Posted:
2022-10-18
First Post:
2021-06-02
Brief Title:
Germline Mutations Associated With Hereditary Pancreatic Cancer in Unselected Patients With Pancreatic Cancer in Mexico
Sponsor:
Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran
Organization:
Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran
Study Overview
Official Title:
Prevalence Estimation of BRCA1 BRCA2 and Other Germline Mutations Associated With Hereditary Pancreatic Cancer Using a Comprehensive Gene Panel in an Unselected Cohort of Patients With Pancreatic Adenocarcinoma in Mexico
Status:
COMPLETED
Status Verified Date:
2022-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Pancreatic cancer is a highly lethal disease The cause of pancreatic cancer is multifactorial However around 10 of cases are associated with hereditary predisposition Germline mutations in BRCA1 and BRCA2 CDKN2A STK11 DNA mismatch repair MMR genes MLH1 MSH2 MSH6 or PMS2 PALB2 FANCC FANCG and ATM have been associated with an increased risk for pancreatic cancer The prevalence of these germline mutations varies across populations For instance the prevalence of BRCA12 germline mutations in high-risk populations can be up to 20 On the other hand in unselected patient population the prevalence of BRCA12 germline mutations is 5-7 In Mexican population data on the prevalence of BRCA12 germline mutations in patients with pancreatic cancer are lacking Identification of BRCA germline mutations in patients with pancreatic cancer has implications for treatment Also it allows genetic testing and counselling for family members This study will determine the prevalence of germline mutations associated with hereditary pancreatic cancer using a comprehensive gene panel in an unselected cohort of patients with pancreatic adenocarcinoma in Mexico
Detailed Description:
This is an observational study to estimate the prevalence of germline mutations in patients with pancreatic cancer Eighty four genes will be analyzed all of which have been associated with hereditary cancer The genes are included on Invitae Multi-Cancer Panel performing full-gene sequencing and deletionduplication analysis using next-generation sequencing technology The 84 genes include AIP ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CHEK2 CTNNA1 DICER1 DIS3L2 EGFR EPCAM FH FLCN GATA2 GPC3 GREM1 HOXB13 HRAS KIT MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PDGFRA PHOX2B PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51C RAD51D RB1 RECQL4 RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TERC TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None