Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.
1/5 보강
Familial non-medullary thyroid cancer (FNMTC) is a well-differentiated thyroid cancer (DTC) of follicular cell origin in two or more first-degree relatives.
APA
Majdalani P, Yoel U, et al. (2023). Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.. International journal of molecular sciences, 24(9). https://doi.org/10.3390/ijms24098233
MLA
Majdalani P, et al.. "Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.." International journal of molecular sciences, vol. 24, no. 9, 2023.
PMID
37175943 ↗
Abstract 한글 요약
Familial non-medullary thyroid cancer (FNMTC) is a well-differentiated thyroid cancer (DTC) of follicular cell origin in two or more first-degree relatives. Patients typically demonstrate an autosomal dominant inheritance pattern with incomplete penetrance. While known genes and chromosomal loci account for some FNMTC, the molecular basis for most FNMTC remains elusive. To identify the variation(s) causing FNMTC in an extended consanguineous family consisting of 16 papillary thyroid carcinoma (PTC) cases, we performed whole exome sequence (WES) analysis of six family patients. We demonstrated an association of , , and genes with FNMTC. The variations in these genes may affect the structures of their encoded proteins and, thus, their function. The most promising causative gene is which has high expression in the thyroid, and its protein-protein interactions (PPIs) suggest predisposition of PTC through ARHGEF28-SQSTM1-TP53 or ARHGEF28-PTCSC2-FOXE1-TP53 associations. Using DNA from a patient's thyroid malignant tissue, we analyzed the possible cooperation of somatic variations with these genes. We revealed two somatic heterozygote variations in and genes known to implicate thyroid cancer. Thus, the predisposition by the germline variations and a second hit by somatic variations could lead to the progression to PTC.
🏷️ 키워드 / MeSH 📖 같은 키워드 OA만
- Humans
- Thyroid Cancer
- Papillary
- Consanguinity
- Genetic Predisposition to Disease
- Thyroid Neoplasms
- Neoplastic Syndromes
- Hereditary
- X-ray Repair Cross Complementing Protein 1
- ARHGEF28
- FBXW10
- HRAS
- SLC47A1
- XRCC1
- familial non-medullary thyroid cancer (FNMTC)
- papillary thyroid carcinoma (PTC)
- protein–protein interactions (PPIs)
- whole exome sequence (WES)
🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
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