High prevalence of exon 8 G 533 C mutation in apparently sporadic medullary thyroid carcinoma in G reece

Self Cite

Section: Discussionsupporting

confidence: 84%

Medullary thyroid carcinoma: the influence of policy changing in clinical characteristics and disease progression

Alevizaki

Saltiki

Rentziou

et al. 2012

Self Cite

“…This mutation appears to be specific to the Mediterranean region (7,12) and has rarely been found in other series. Interestingly, the first …”

Section: Variability Of Mutations Spectrum In Different Ethnic Groupsmentioning

confidence: 65%

“…Mutations in exon 10 at codons 609, 611, 618, and 620 and in exon 11 at codon 634 (5) are the commonest among the familial cases accounting for 88-98% of the cases. Less frequently, mutations have been reported in the non-cysteine RET region such as at codon 804 in exon 14, codon 883 in exon 15, and codon 533 in exon 8 (6,7). Mutations at codon 918 in exon 16 are found in 95% of MEN2B patients and appear to be specific for this syndrome (5).…”

Section: Introductionmentioning

confidence: 99%

Genetic screening of patients with medullary thyroid cancer in a referral center in Greece during the past two decades

Papathoma

Garofalaki

et al. 2015

Objective: Mutations in the RET gene are responsible for hereditary medullary thyroid cancer (MTC) and may vary between ethnic groups. We report the spectrum of mutations detected in patients with MTC in a referral center in Greece. Patients and methods: Screening for RET mutations was performed in 313 subjects from 188 unrelated families: 51 patients had clinical suspicion for familial disease, 133 were apparently sporadic, four patients had only C cell hyperplasia, and 125 were family members. Exons 8, 10, 11, and 13-16 were screened. Results: A total of 58 individuals (30.85%) were RET mutations carriers, 120 (63.8%) were finally classified as sporadic, 13 apparently sporadic cases (9.8%) were identified with RET mutation: ten carried the exon 8 at codon 533 mutation (previously reported), two the exon 14 at codon 804 mutation, and one the exon 13 at codon 768 mutation. Six patients (3.19%) with clinical features of multiple endocrine neoplasia type 2A and negative for RET mutations were classified as 'unknown cause'. The mutations of hereditary cases were as follows: 21 cases (36.2%) in exon 8 codon 533, 19 (32.8%) in exon 11 codon 634, nine (15.5%) in exon 10, five (8.6%) in exon 16, three (5.2%) in exon 14 codon 804, and one in exon 13 codon 768 (1.7%). Conclusion:The spectrum of RET mutations in Greece differs from that in other populations and the prevalence of familial cases is higher. The exon 8 (Gly533Cys) mutation was the most prevalent in familial cases unlike other series, followed by exon 11 (codon 634) mutations which are the most frequent elsewhere. The wide application of genetic screening in MTC reveals new molecular defects and helps to characterize the spectrum of mutations in each ethnic group.

“…Before more data are forthcoming from other countries, exon 8 may need to be scanned in addition -not just in Greek patients presenting with apparently sporadic MTC, 7.8% (ten of 129) of whom may carry mutations in codon 533 (23).…”

Section: Implications For Ret Screening Programs In the New Milleniummentioning

confidence: 99%

Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium

Machens

Lorenz

Sekulla

et al. 2013

Objective: Twenty years ago, the groundbreaking discovery that rearranged during transfection (RET) mutations underlie multiple endocrine neoplasia 2 (MEN2) and familial medullary thyroid cancer (FMTC) ushered in the era of personalized medicine. MEN2-associated signs, taking time to manifest, can be subtle. This study sought to clarify to what extent conventional estimates of 1:200 000-500 000 underestimate the incidence of RET mutations in the population. Design: Included in this retrospective investigation were 333 RET carriers born between 1951 and 2000 and operated on at the largest German surgical referral center (286 carriers) or elsewhere (47 carriers). Methods: To estimate the incidence of RET mutations, the number of RET carriers born in Germany in five decades