Authors’ reply to: Absence of the MA<i>P2K5</i> germline variants c.G961A and c.T1100C in a wide series of familial non‐medullary thyroid carcinoma Italian families. <i>International Journal of Cancer</i> 2019; in press

Ye, Feng; Gao, Hong‐Wei; Lin, Xiao; Ding, Hong; Huang, Zhouyang; Jiang, Yong; Cheng, Liang; Bu, Hong

doi:10.1002/ijc.32243

Cited by 3 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Additionally, a separate study targeting MAP2K5 DNA assays in Italian families did not yield any positive results ( 14 , 15 ).…”

Section: Identified Susceptibility Genes Associated With Fnmtcmentioning

confidence: 89%

“…However, it is important to note that the identified susceptibility genes, such as MAP2K5 (15q23) (13)(14)(15), HABP2 (10q25.3) (16- 25), and the 19q13.2 locus (TCO) (26-30), primarily exist within specific families and may not be universally applicable across different families. FNMTC exhibits strong genetic heterogeneity, with each family having its specific pathogenic genes.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer

Jiang,

Xia,

Han

et al. 2024

Front. Oncol.

View full text Add to dashboard Cite

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. Initial studies utilized SNP linkage analysis to identify susceptibility loci, including the 1q21 locus, 2q21 locus, and 4q32 locus, among others. Subsequent research employed more advanced techniques such as Genome-wide Association Study and Whole Exome Sequencing, leading to the discovery of genes such as IMMP2L, GALNTL4, WDR11-AS1, DUOX2, NOP53, MAP2K5, and others. But FNMTC exhibits strong genetic heterogeneity, with each family having its own pathogenic genes. This is the first article to provide a chromosomal landscape map of susceptibility genes associated with non-syndromic FNMTC and analyze their potential associations. It also presents a detailed summary of variant loci, characteristics, research methodologies, and validation results from different countries.

show abstract

“…Additionally, a separate study targeting MAP2K5 DNA assays in Italian families did not yield any positive results ( 14 , 15 ).…”

Section: Identified Susceptibility Genes Associated With Fnmtcmentioning

confidence: 89%

mentioning

confidence: 99%

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer

Jiang,

Xia,

Han

et al. 2024

Front. Oncol.

View full text Add to dashboard Cite

show abstract

“…Consequently, while the classic MEK1/2 –ERK1/2 activity is essential in the tumorigenesis of sporadic NMTC, its alternative pathway, MAP2K5 – ERK5 activation, is likely responsible for a subgroup of NS-FNMTC cases. The absence of these MAP2K5 germline variants in a series of 33 unrelated NS-FNMTC Italian families ( 92 ) has been attributed to different sensitivity of the techniques used (WES versus Ssq) and/or ethnic differences ( 93 ).…”

Section: Susceptibility Genes Associated With Ns-fnmtcmentioning

confidence: 99%

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys

et al. 2022

View full text Add to dashboard Cite

Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations implicated in hereditary follicular tumors are less well known. Since the genetic background of syndromic familial non-medullary carcinoma has been well established, here we review the pathogenesis of non-syndromic familial non-medullary carcinoma emphasizing those aspects that may be useful in clinical and pathological diagnosis. Non-syndromic familial non-medullary carcinoma has a complex and heterogeneous genetic basis involving several genes and loci with a monogenic or polygenic inheritance model. Most cases are papillary thyroid carcinoma (classic and follicular variant), usually accompanied by benign thyroid nodules (follicular thyroid adenoma and/or multinodular goiter). The possible diagnostic and prognostic usefulness of the changes in the expression and/or translocation of various proteins secondary to several mutations reported in this setting requires further confirmation. Given that non-syndromic familial non-medullary carcinoma and sporadic non-medullary thyroid carcinoma share the same morphology and somatic mutations, the same targeted therapies could be used at present, if necessary, until more specific targeted treatments become available.

show abstract

Identification of P21 (CDKN1A) Activated Kinase 4 as a Susceptibility Gene for Familial Non-Medullary Thyroid Carcinoma

Jiang,

Xia,

et al. 2024

Thyroid®

View full text Add to dashboard Cite

Authors’ reply to: Absence of the MAP2K5 germline variants c.G961A and c.T1100C in a wide series of familial non‐medullary thyroid carcinoma Italian families. International Journal of Cancer 2019; in press

Cited by 3 publications

References 10 publications

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys

Identification of P21 (CDKN1A) Activated Kinase 4 as a Susceptibility Gene for Familial Non-Medullary Thyroid Carcinoma

Contact Info

Product

Resources

About