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Biomedical

Advanced adenomas may be a red flag for hereditary cancer syndromes

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Swati G. Patel,

Swati G. Patel

NULL


Heather Hampel,

Heather Hampel

NULL


Derek Smith,

Derek Smith

NULL


Dexiang Gao,

Dexiang Gao

NULL


Myles Cockburn,

Myles Cockburn

NULL


Fay Kastrinos

Fay Kastrinos

NULL


  Peer Reviewed

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© attribution CC-BY

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512 Views

Added on

2024-10-03

Doi: http://dx.doi.org/10.1186/s13053-020-00164-9

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
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Abstract

Background: 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of cancer. Aim: Describe the prevalence of hereditary cancer syndromes among patients with advanced colorectal polyps. Methods: We performed a single center retrospective review from 2015 to 2019 of patients who underwent germline genetic testing with indication for testing listed as colorectal polyp. We excluded patients with a personal history of CRC and those with ≥10 cumulative polyps. We collected patient demographics, polyp characteristics, family history data and genetic testing results from the medical record. Discrete variables were reported as frequency and percentages and continuous variables reported as mean with range. Results: A total of 42 patients underwent genetic testing due to a personal history of advanced adenoma. 17% of patients met current genetic testing criteria. All patients underwent multi-gene panel testing. Two patients (4.8%) had a germline pathogenic mutation (one in MLH1 and one in CHEK2). The patient with an MLH1 mutation met current criteria for genetic testing (PREMM5 score 5.8), however the patient with the CHEK2 mutation did not. Both mutation carriers had a personal history of synchronous or metachronous advanced adenomas. 38% had a variant of uncertain significance.

Conclusions: 5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation in MLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary cancer syndromes. Keywords: Colorectal cancer, Colorectal polyps, Adenomas, Genetic testing, Lynch syndrome

Key Questions

What are advanced adenomas?

Advanced adenomas are precancerous polyps in the colon that exhibit high-risk features, such as significant size, villous architecture, or high-grade dysplasia.

Why are advanced adenomas considered a potential red flag for hereditary cancer syndromes?

The study found that 5% of patients with advanced adenomas had a pathogenic germline mutation in a cancer predisposition gene, highlighting their possible connection to hereditary cancer syndromes.

What is the significance of genetic testing for patients with advanced adenomas?

Genetic testing can help identify individuals at risk for hereditary cancer syndromes, even without a strong personal or family history of cancer, enabling early interventions and preventive strategies.

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ARTICLE USAGE


Article usage: Oct-2024 to May-2025
Show by month Manuscript Video Summary
2025 May 104 104
2025 April 70 70
2025 March 64 64
2025 February 53 53
2025 January 99 99
2024 December 36 36
2024 November 45 45
2024 October 41 41
Total 512 512
Show by month Manuscript Video Summary
2025 May 104 104
2025 April 70 70
2025 March 64 64
2025 February 53 53
2025 January 99 99
2024 December 36 36
2024 November 45 45
2024 October 41 41
Total 512 512
Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health
copyright icon

© attribution CC-BY

  • 0

rating
512 Views

Added on

2024-10-03

Doi: http://dx.doi.org/10.1186/s13053-020-00164-9

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health

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