Germline Mutations Associated With Hereditary Pancreatic Cancer in Unselected Patients With Pancreatic Cancer in Mexico

NCT05305001 | Completed

• 1 other identifier: HEM-3331-20-20-1
• Study Type: observational
• Target: 107
• Locations: 1 country
• Sites: 1

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 BRCA1/2 germline mutations in high-risk populations can be up to 20%. On the other hand, in unselected patient population, the prevalence of BRCA1/2 germline mutations is 5-7%. In Mexican population, data on the prevalence of BRCA1/2 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.

Conditions

Pancreatic Cancer; Pancreatic Adenocarcinoma

Keywords

BRCA 1/2 germline mutations

Outcome Measures

Primary Outcomes (1)

• BRCA 1/2 germline mutation prevalence

  To estimate the prevalence of BRCA1 and BRCA2 germline mutations in patients who present to the clinical site within 6 months of a histologically confirmed diagnosis of pancreatic adenocarcinoma.

  15 months

Secondary Outcomes (2)

• Other germline mutation prevalence

  15 months

• Clinical and pathological characteristics

  15 months

Other Outcomes (2)

• The proportion of blood relatives of germline mutation carriers who accept genetic counseling and genetic testing

  15 months

• The proportion of germline mutation carriers who accept pancreatic cancer surveillance.

  up to 15 months

Interventions

Invitae Multi-Cancer Panel ® GENETIC

Participants will have genetic testing.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The study population will be patients who are diagnosed within 6 months of enrollment with pancreatic adenocarcinoma.

You may qualify if:

• Female and male participants ≥ 18 years of age.
• Diagnosed within the previous 6 months with histologically confirmed pancreatic adenocarcinoma stage I to IV.
• Participant provides written informed consent for the study.
• Participant must agree to sample collection and genetic testing using the Invitae Multi-Cancer Panel ®.

You may not qualify if:

• Diagnosed with pancreatic adenocarcinoma more than 6 months before presenting to the clinical site.
• Diagnosed with intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, pancreatic neuroendocrine tumors.

Sponsors & Collaborators

• Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran: lead

Study Sites (1)

Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

Mexico City, 14080, Mexico

Location

Related Publications (12)

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  PMID: 31205572 BACKGROUND

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  PMID: 12097290 BACKGROUND

• Stadler ZK, Salo-Mullen E, Patil SM, Pietanza MC, Vijai J, Saloustros E, Hansen NA, Kauff ND, Kurtz RC, Kelsen DP, Offit K, Robson ME. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer. 2012 Jan 15;118(2):493-9. doi: 10.1002/cncr.26191. Epub 2011 May 19.

  PMID: 21598239 BACKGROUND

• Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 2006 Dec 6;98(23):1694-706. doi: 10.1093/jnci/djj465.

  PMID: 17148771 BACKGROUND

• Fernandez-Lopez JC, Romero-Cordoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jimenez-Morales S, Beltran-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Pina V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A. Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population. Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.

  PMID: 30630528 BACKGROUND

• Villarreal-Garza C, Alvarez-Gomez RM, Perez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibanez M, Blazer KR, Weitzel JN. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015 Feb 1;121(3):372-8. doi: 10.1002/cncr.29058. Epub 2014 Sep 18.

  PMID: 25236687 BACKGROUND

• Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, Alvarez-Gomez RM, Herzog J, Castillo D, Royer R, Akbari M, Lara-Medina F, Herrera LA, Mohar A, Narod SA. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat. 2015 Apr;150(2):389-94. doi: 10.1007/s10549-015-3312-8. Epub 2015 Feb 26.

  PMID: 25716084 BACKGROUND

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  PMID: 31157963 BACKGROUND

Related Links

• globocan

Biospecimen

Retention: SAMPLES WITH DNA

5 mL of whole blood mixed with EDTA will be collected from each participant.

MeSH Terms

Conditions

Pancreatic Neoplasms

Condition Hierarchy (Ancestors)

Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Endocrine Gland Neoplasms; Digestive System Diseases; Pancreatic Diseases; Endocrine System Diseases

Study Officials

• Fidel D Huitzil Meléndez, MD

  Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 2, 2021
• First Posted: March 31, 2022
• Study Start: September 9, 2020
• Primary Completion: June 30, 2022
• Study Completion: June 30, 2022
• Last Updated: October 18, 2022

Record last verified: 2022-10

Locations

ME (1)