title: Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family.
abstract: 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.
authors.affiliation: Diabetes & Endocrinology Center, Sichuan Academy of Medical Science, Sichuan Provincial People's Hospital, Chengdu 610072, China. shunyaol@yahoo.com.
authors.forename: Shunyao
authors.initials: S
authors.lastname: Liao
authors.forename: Wenzhong
authors.initials: W
authors.lastname: Song
authors.forename: Yunqiang
authors.initials: Y
authors.lastname: Liu
authors.forename: Shaoping
authors.initials: S
authors.lastname: Deng
authors.forename: Yaming
authors.initials: Y
authors.lastname: Liang
authors.forename: Zhenlin
authors.initials: Z
authors.lastname: Tang
authors.forename: Jiyuan
authors.initials: J
authors.lastname: Huang
authors.forename: Dandan
authors.initials: D
authors.lastname: Dong
authors.forename: Gang
authors.initials: G
authors.lastname: Xu