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Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways.
Int J Cancer
January 2025
Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
The genetic basis of nonsyndromic familial nonmedullary thyroid carcinoma (FNMTC) is still poorly understood, as the susceptibility genes identified so far only account for a small percentage of the genetic burden. Recently, germline mutations in DNA repair-related genes have been reported in cases with thyroid cancer. In order to clarify the genetic basis of FNMTC, 94 genes involved in hereditary cancer predisposition, including DNA repair genes, were analyzed in 48 probands from FNMTC families, through targeted next-generation sequencing (NGS).
View Article and Find Full Text PDFNovel truncating germline variant reinforces as a susceptibility gene for familial non-medullary thyroid cancer.
J Med Genet
September 2024
Endocrinology, ICMDM, Hospital Clinic de Barcelona, Barcelona, Spain.
Background: It has long been observed that there are families in which non-medullary thyroid cancer (NMTC) occurs, but few syndromes and genes have been described to date. Proteins in the shelterin complex have been implied in cancer. Here, we have studied shelterin genes in families affected by NMTC (FNMTC).
View Article and Find Full Text PDF[Research progress of nonsyndromic familial non-medullary thyroid carcinoma].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
June 2024
Department of Surgical Oncology, Affiliated Hospital of Qinghai University, Xining 810012, China.
Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.
Front Oncol
March 2024
Department of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Familial non-medullary thyroid carcinoma (FNMTC) is a type of thyroid cancer characterized by genetic susceptibility, representing approximately 5% of all non-medullary thyroid carcinomas. While some cases of FNMTC are associated with familial multi-organ tumor predisposition syndromes, the majority occur independently. The genetic mechanisms underlying non-syndromic FNMTC remain unclear.
View Article and Find Full Text PDFClinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
J Clin Endocrinol Metab
November 2024
Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Context: The underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predictive testing of family members and preventive clinical management.
Objective: Our objectives were to investigated the potential heritability in the largest childhood NMTC cohort that has been genotyped to date.
Methods: Nationwide retrospective cohort study in tertiary referral centers.
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