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NCT Number: NCT05305001

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

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.

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Key information

Conditions

Pancreatic Cancer Digestive System Diseases Digestive System Neoplasms Endocrine Gland Neoplasms Endocrine System Diseases Neoplasms Neoplasms by Site Pancreatic Adenocarcinoma Pancreatic Diseases Pancreatic Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

Mexico City, 14080, Mexico

About this study

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 deletion/duplication 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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 ®.

Exclusion criteria

  • 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.

Treatment and study plan

Invitae Multi-Cancer Panel ®

Genetic

Participants will have genetic testing.

Primary outcomes

  1. BRCA 1/2 germline mutation prevalence

    Time frame: 15 months

    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.

Secondary outcomes

  1. Other germline mutation prevalence

    Time frame: 15 months

    To estimate the prevalence of other germline mutations associated with hereditary pancreatic cancer in patients who present to the clinical site within 6 months of a histologically confirmed diagnosis of pancreatic adenocarcinoma.

  2. Clinical and pathological characteristics

    Time frame: 15 months

    To describe the clinical and pathological characteristics of patients with pancreatic adenocarcinoma and BRCA1, BRCA2 and other germline mutations.

Other outcomes

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

    Time frame: 15 months

    Number of first degree relatives with a positive genetic test result. Number of first degree relatives with genetic counseling and genetic testing.

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

    Time frame: up to 15 months

    Number of germline mutation carriers included in a surveillance protocol assessed by abdominal imaging.

Sponsors and collaborators

Lead sponsor

Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran

Other

Registry information

Official study 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

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
Mar 31, 2022
Registry last updated
Oct 18, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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