SavedAdd your journal

Journals / Turkish Journal of Medical Sciences / 2020 / Cilt: 50 - Sayı: 4

Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study

Haktan Bağış ERDEM
Taha BAHSİ
Pages
1015–1021
Publication Date
2020-08-01
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Point mutation screening in the families of patients with mutations will be able to identify individuals at risk in a cost-effective manner.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Background/aim: Quarter of colorectal cancer patients have a family history and 6% of these comprise hereditary cancer syndromes.
📊
Key Findings & Data:For developing national health strategies for genetic screening, it is crucial to determine the spectrum of damaging alterations in causative genes and to describe frequent founder mutations.
💡
Conclusion & Impact:Point mutation screening in the families of patients with mutations will be able to identify individuals at risk in a cost-effective manner.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Colorectal cancer · genetics · hereditary cancer

Abstract

Background/aim: Quarter of colorectal cancer patients have a family history and 6% of these comprise hereditary cancer syndromes. For developing national health strategies for genetic screening, it is crucial to determine the spectrum of damaging alterations in causative genes and to describe frequent founder mutations. Materials and methods: One hundred and thirty six unrelated colorectal cancer cases were investigated. Qiagen large hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for sequencing. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight QCITM Analyze software and Sophia DDM software. Results: Of 136 patients, 11 8% were found to carry a pathogenic and 2 1.4% were found to carry a likely pathogenic mutation. Altogether, 12 different pathogenic and likely pathogenic mutations were detected. Conclusion: This study is the first study in Turkish colorectal cancer patients using next-generation sequencing. Point mutation screening in the families of patients with mutations will be able to identify individuals at risk in a cost-effective manner.

🔖

Cite This Article

ERDEM, H. B., BAHSİ, T. (2020). Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study. Turkish Journal of Medical Sciences, Cilt: 50 - Sayı: 4, 1015–1021. https://ajindex.com/articles/113191

References (13)

  1. Gültekin M, Boztaş G. Türkiye kanser istatistikleri. Sağlık Bakanlığı, Türkiye Halk Sağlığı Kurumu 2014; pp. 43 (in Turkish)
  2. Vasen HF, Tomlinson I, Castells A. Clinical management of hereditary colorectal cancer syndromes. Nature Reviews Gastroenterology & Hepatology 2015; 12 (2): 88
  3. Sinicrope FA. Lynch syndrome-associated colorectal cancer. New England Journal of Medicine 2018; 379 (8): 764-773
  4. Beiner ME, Rosen B, Fyles A, Harley I, Pal T et al. Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2. Cancer Epidemiology and Prevention Biomarkers 2006; 15 (9): 1636-1640
  5. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. The American Journal of Gastroenterology 2015; 110 (2): 223
  6. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66 (3): 589-600
  7. Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. The Journal of the American Medical Association 2012; 308 (5): 485-492
  8. Nielsen M, Morreau H, Vasen HF, Hes FJ. MUTYH-associated polyposis (MAP). Critical Reviews in Oncology/Hematology 2011; 79 (1): 1-16
  9. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJA, Gittelsohn AM et al. Increased risk of cancer in the Peutz– Jeghers syndrome. New England Journal of Medicine 1987; 316 (24): 1511-1514
  10. Calva‐Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen‐Haidle J et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clinical Genetics 2009; 75 (1): 79-85
  11. Li J, Yen C, Liaw D, Podsypanina K, Bose S et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997; 275 (5308): 1943-1947. 12. van Gool IC, Bosse T, Church DN. POLE proofreading mutation, immune response and prognosis in endometrial cancer. Oncoimmunology 2016; 5 (3): e1072675
  12. Rohlin A, Eiengård F, Lundstam U, Zagoras T, Nilsson S et al. GREM 1 and POLE variants in hereditary colorectal cancer syndromes. Genes, Chromosomes and Cancer 2016; 55 (1): 95-106
  13. LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S et al. A clinical guide to hereditary cancer panel testing: evaluation of gene-