Clinical trial NCT03365986: Systemic Screening for Hereditary Colorectal Cancer in China
Official title: Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Hereditary Colorectal Cancer
Keywords: hereditary
colorectal cancer
screening
Lead sponsor: Sun Yat-sen University
Sponsor class: OTHER
First posted: 2017-12-08
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Newly diagnosed patients with colorectal adenocarcinoma (all stages). For individuals who are old than 70 years old should meet the revised Bethesda Guidelines or polyposis syndromes testing criteria.

Brief summary: The purpose of the this study is to determine the prevalence of germline cancer susceptibility gene mutation among Chinese population, and to find best ways to screen patients with colorectal cancer in China. To accomplish this objective, the investigators will establish a large sample database of hereditary colorectal cancer related information using multigene panel testing based on Next-Generation Sequencing.

Detailed description: Hereditary factors play a very important role in colorectal cancer risk. Identification of the germline cancer gene mutation at the time of colorectal cancer presentation has significant implications for the patients and families, as it directs follow up and clinical options. Professional guidelines recommend patients with colorectal cancer receive a phenotype-driven genetic testing strategies. For example，Lynch syndrome was identified in 2%-4% of patients with CRC using micro-satellite instability (MSI) or DNA mismatch repair (MMR) protein immunohistochemistry (IHC) tumor testing in preselected patients for germline MMR gene testing. However, there is few of clinical characteristics or germline gene mutation data from Chinese population. With the advent of next-generation sequencing (NGS), genetic testing for hereditary CRC has shifted from phenotype-specific single gene assessment to broad panels providing simultaneous assessment of multiple genes implicated in various hereditary cancer syndromes. This study plans to screen and establish a database of 500 consecutive newly diagnosed patients with CRC using multigene panel testing based on Next-Generation Sequencing. The purpose of this study is to:

1. Determine the prevalence of hereditary colorectal cancer and spectrum of germline cancer gene mutation among Chinese population.
2. Evaluate the cost-effectiveness and optimize the design of multigene panel testing.
3. Establish a statewide screening model for hereditary colorectal cancer.

Eligibility criteria: Inclusion Criteria:

1. Newly diagnosed with colorectal adenocarcinoma (all stages) patients. For individuals who are old than 70 years old should meet the revised Bethesda Guidelines or polyposis syndromes testing criteria.
2. Agree to provide related information.

Exclusion Criteria:

1. Individuals who are under the age of 18.
2. Individuals who refuse to test.

Primary outcomes:
measure: The incidence of hereditary colorectal cancer
timeFrame: 3 months
Secondary outcomes:
measure: cost-effect for hereditary colorectal cancer screening
timeFrame: 3 months
Other outcomes:
Locations:
city: Guangzhou
country: China
facility: 651 Dongfeng Road East
state: Guangdong
Study officials:
affiliation: Sun Yat-sen University
name: Ding Peirong, MD
role: STUDY_DIRECTOR
References:
citation: Jiang W, Li L, Ke CF, Wang W, Xiao BY, Kong LH, Tang JH, Li Y, Wu XD, Hu Y, Guo WH, Wang SZ, Wan DS, Xu RH, Pan ZZ, Ding PR. Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel. J Med Genet. 2022 Apr;59(4):370-376. doi: 10.1136/jmedgenet-2020-107230. Epub 2021 Feb 9.