Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family

BMC Endocrine Disorders

Gang Xu⁵  Dandan Dong⁵  Jiyuan Huang⁴  Zhenlin Tang⁴  Yaming Liang¹  Shaoping Deng²  Yunqiang Liu³  Wenzhong Song⁴  Shunyao Liao¹ 

[1] Diabetes & Endocrinology Center, Sichuan Academy of Medical Science, Sichuan Provincial People’s Hospital, Chengdu 610072, China;Department of Surgery, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA;Department of Medical Genetics and Division of Morbid Genomics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, China;Department of Thyroid Disease & Nuclear Medicine, Sichuan Academy of Medical Science, Sichuan Provincial People’s Hospital, Chengdu 610072, China;Department of Pathology, Sichuan Academy of Medical Science, Sichuan Provincial People’s Hospital, Chengdu 610072, China

关键词: Risk alleles;    Genetic association;    Mutational analysis;    Multinodular goiter syndrome;    Familial papillary thyroid carcinomas;   

Others  :  1085555
DOI  :  10.1186/1472-6823-13-48

 received in 2013-06-04, accepted in 2013-10-17,  发布年份 2013

【 摘 要 】

Background

Familial papillary thyroid cancer (fPTC) is recognized as a distinct entity only recently and no fPTC predisposing genes have been identified. Several potential regions and susceptibility loci for sporadic PTC have been reported. We aimed to evaluate the role of the reported susceptibility loci and potential risk genomic region in a Chinese familial multinodular goiter (fMNG) with PTC family.

Methods

We sequenced the related risk genomic regions and analyzed the known PTC susceptibility loci in the Chinese family members who consented to join the study. These loci included (1) the point mutations of the BRAF and RET; (2) the possible susceptibility loci to sporadic PTC; and (3) the suggested potential fMNG syndrome with PTC risk region.

Results

The members showed no mutations in the common susceptible BRAF and RET genomic region, although contained several different heterozygous alleles in the RET introns. All the members were homozygous for PTC risk alleles of rs966423 (C) at chromosome 2q35, rs2910164 (C) at chromosome 5q24 and rs2439302 (G) at chromosome 8p12; while carried no risk allele of rs4733616 (T) at chromosome 8q24, rs965513 (A) or rs1867277 (A) at chromosome 9q22 which were associated with radiation-related PTC. The frequency of the risk allele of rs944289 (T) but not that of rs116909374 (T) at chromosome 14q13 was increased in the MNG or PTC family members.

Conclusions

Our work provided additional evidence to the genetic predisposition to a Chinese familial form of MNG with PTC. The family members carried quite a few risk alleles found in sporadic PTC; particularly, homozygous rs944289 (T) at chromosome 14q13 which was previously shown to be linked to a form of fMNG with PTC. Moreover, the genetic determinants of radiation-related PTC were not presented in this family.

【 授权许可】

   
2013 Liao et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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