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• W2918584873 abstract "We greatly appreciate the interest of Italian counterparts, Cirello and colleagues, in our recent research reporting of MAP2K5 variants c.G961A and c.T1100C (p. A321T and p.M367T) as susceptibility loci for familial non-medullary thyroid carcinoma (FNMTC).1, 2 As noted by the authors, they screened for the exact variants of MAP2K5 c.G961A and c.T1100C in their 33 unrelated FNMTC Italian families, each kindred including two or more first- or second-degree biologically related non-medullary thyroid carcinoma on 86 familial members.1 It seems counterintuitive that MAP2K5 c.G961A and c.T1100C were neither checked in the 74 affected nor in the 12 nonaffected family members.1 However, with the rapid improvement of sequencing technology, it is feasible to acquire mass DNA sequence information; for example, whole genome sequence or whole genome sequence.3, 4 With the extensive application of next generation sequencing, increasing numbers of dispersed mutation sites crossing whole regions within one gene were quite common in a variety tumors (e.g., BRCA1/2 for familial breast cancer or ovary cancer; MLH1, MSH2, MSH6, and PMS2 for Lynch syndrome; APC for familial adenomatous polyposis) with plenty of rare susceptibility gene variants.5-8 In fact, compared to familial medullary thyroid carcinoma, of whom the susceptibility gene is mainly focused on RET gene, the mechanism of FNMTC is not extensively investigated.9 Previously, several candidate loci and genes were reported as susceptibility genes for FNMTC but most were at low frequency, for example, MNG1(14q32), thyroid carcinoma with oxyphilia (19p13.2), fPTC/papillary renal neoplasia (1q21), NMTC1 (2q21), FTEN (8p23.1-p22), telomere-telomerase complex, SRRM2, and panel of APC L292F/A2778S, BRAF D22N, MSH6 G355S, and A36V.9, 10 The unveiled reports suggest that instead of high-frequency or hotspot mutations on several genes or several hotspot mutation sites, the susceptibility genes for FNMTC are more likely to contain plenty of genes at dispersed loci. The susceptibility loci we previously reported were found in two families. The MAP2K5 c.G961A was found in three first-degree relatives within one kindred, and the MAP2K5 c.T1100C was found in two first-degree relatives in another kindred.2 The mutation site is identical and repeatable within the same family, though we did not observe repeating site crossing different families within the same gene MAP2K5. Also we noted that in Cirello's letter, they screened MAP2K5 c.G961A and c.T1100C variants by polymerase chain reaction (PCR) and direct Sanger sequencing in 33 families consisting of 74 affected and 12 nonaffected family members.1 Although the direct Sanger sequencing is a matured technology and widely applied for gene mutation calling, it is a little bit vague, only reading a very short fragment (e.g., no longer than 1,000 bp). High-throughput sequencing, such as next generation sequencing, might be better platform for confirming susceptibility genes in a different study. Finally, we should also point out that the frequency of discovered susceptibility genes in Chinese population might not be as the same as in Italian population, especially for low-frequency or rare mutation variants, due to the ethnicity issue. Other familial-related cancers (e.g., familial breast cancer, familial ovary cancer, Lynch Syndrome, and familial adenomatous polyposis) are similar. Taking breast cancer, for example, unlike in the Caucasian population, plenty of novel mutation sites were identified in familial breast cancer in the Chinese population. Also, the Chinese population was found with a relative predominance of BRCA2 mutations (58%), suggesting different breast cancer biology compared to the Western population.5 Overall, we agree with the interpretation of Cirello and colleagues, that careful replication studies in different populations should be performed to assess the possible association between FNMTC risk and gene variants. As sequencing technology rapidly progresses, it may be warranted for pathologists and scientists to consider rare mutations as well as low-frequency loci crossing different populations. Further study of the MAP2K5 loci in other populations, as well as its clinical and biological significance, is still needed. The authors declare no conflicts of interest." @default.
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• W2918584873 date "2019-03-19" @default.
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• W2918584873 title "Authors’ reply to: Absence of the MA P2K5 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" @default.
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• W2918584873 doi "https://doi.org/10.1002/ijc.32243" @default.
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