ECE2024 Eposter Presentations Endocrine-Related Cancer (90 abstracts)
Germline mutation in the CHEK2 gene in papillary thyroid cancer and the coexistence of other cancers
Danuta Gąsior-Perczak 1,2 , Artur Kowalik 3,4 , Paweł Macek 1,5 , Janusz Kopczyński 6 , Krzysztof Gruszczyński 3 , Iwona Palyga 1,2 , Agnieszka Walczyk 1,2 , Piotr Przybycień 2 , Monika Siołek 7 , Stanislaw Gozdz 1,8 & Aldona Kowalska 1,9
1Jan Kochanowski University, Collegium Medicum, Kielce, Poland; 2Holycross Cancer Center, Endocrinology Clinic, Kielce, Poland; 3Holycross Cancer Center, Department of Molecular Diagnostics, Kielce, Poland; 4Jan Kochanowski University, Division of Medical Biology, Institute of Biology, Kielce, Poland; 5Holycross Cancer Center, Department of Epidemiology and Cancer Control, Kielce, Poland; 6Holycross Cancer Center, Surgical Pathology, Kielce, Poland; 7Holycross Cancer Center, Genetic Clinic, Kielce, Poland; 8Holycross Cancer Center, Clinical Oncology, Kielce, Poland; 9Kielce, Endocrinology Clinic, Kielce, Poland
Introduction: The CHEK2 gene is involved in DNA repair. Germline mutations in the CHEK2 gene impair this mechanism, increasing the risk of various cancers, including papillary thyroid cancer (PTC). There are four different mutation variants in the CHEK2 gene in the Polish population: three truncating mutations (1100delC, IVS2+1G>A and del53950) and one missense mutation (I157T).
Material: The study included 1,547 PTC patients (1,358 women and 189 men) treated in single center, median age 50 years (range 15-85).
Method: DNA samples from peripheral blood and CHEK2 mutation genotyping was performed using TaqMan PCR (I157T) or allele-specific PCR and chip electrophoresis (IVS2 + 1G > A del5395, and 1100delC). Detected mutations (I157T, IVS2 + 1G > A, and 1100delC) were confirmed by Sanger sequencing. The patient’s age, CHEK2 mutation type and co-occurrence of other cancers were assessed.
Results: A mutation in the CHEK2 gene was found in 240 (15.5%). The dominant mutation in the CHEK2 gene was the missense mutation I157T, found in 189 (12.3%), while the truncating mutation (IVS2+1G>A, del5395, 1100delC) was found in 44 (2.8%). The co-occurrence of two mutations was found in 7 (0.4%) patients. No mutations in the CHEK2 gene were detected in 1,307 (84.5%) patients. The age of patients with a CHEK2 mutation at the time of diagnosis ranged from 18 to 76 (mean age 51 years), compared to the age of patients without the mutation - 15 to 85 (mean age 50 years). Other cancers were found in 33/240 (13.8%) patients with CHEK2 mutations compared to 158/1307 (12.1%) patients without CHEK2 mutations. The difference was not statistically significant (P=0.4721) The most common malignant tumor in women was breast cancer (n=49, 30.8%), including 36 (27.9%) without the CHEK2 mutation, 10 (40.0%) with the I157T missense mutation and 3 (60.0%) with truncating mutation. There was a significant difference (P=0.0416) in the incidence of breast cancer in patients with and without the CHEK2 (any) mutation. The proportion of women with breast cancer with a CHEK2 mutation (any) was almost twice as high 13 (6.0%) compared to women with breast cancer without a CHEK2 mutation 36 (3.2%).
Conclusions: 1. Mutations in the CHEK2 gene occur in 15.5% of PTC patients. 2. The occurrence of mutations in the CHEK2 gene in PTC patients is associated with a higher risk of breast cancer in women, especially in the case of truncating mutation (60%), the most common in the case of del5395.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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