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• W2621244404 endingPage "e0178776" @default.
• W2621244404 startingPage "e0178776" @default.
• W2621244404 abstract "Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59) while only 42.4% (25/59) of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9%) of tumors screened. There were 3 cases (5.1%) in which no mutations could be detected and germline mutations were detected in 19.5% (8/41) of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59) of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and asymptomatic family members carrying low-penetrance, germline mosaicism or heritable unilateral mutational phenotypes." @default.
• W2621244404 created "2017-06-09" @default.
• W2621244404 creator A5004834609 @default.
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• W2621244404 creator A5075253342 @default.
• W2621244404 creator A5085282656 @default.
• W2621244404 date "2017-06-02" @default.
• W2621244404 modified "2023-10-16" @default.
• W2621244404 title "Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling" @default.
• W2621244404 cites W1266459132 @default.
• W2621244404 cites W1501112269 @default.
• W2621244404 cites W1528584527 @default.
• W2621244404 cites W1573010771 @default.
• W2621244404 cites W1732253485 @default.
• W2621244404 cites W1802167741 @default.
• W2621244404 cites W1814300263 @default.
• W2621244404 cites W1883670734 @default.
• W2621244404 cites W1934958779 @default.
• W2621244404 cites W1952042575 @default.
• W2621244404 cites W1965792767 @default.
• W2621244404 cites W1965906281 @default.
• W2621244404 cites W1966706827 @default.
• W2621244404 cites W1977525445 @default.
• W2621244404 cites W1981792973 @default.
• W2621244404 cites W1982452892 @default.
• W2621244404 cites W1984536924 @default.
• W2621244404 cites W1985528716 @default.
• W2621244404 cites W1991036828 @default.
• W2621244404 cites W1996321918 @default.
• W2621244404 cites W1998939223 @default.
• W2621244404 cites W2014582974 @default.
• W2621244404 cites W2017593200 @default.
• W2621244404 cites W2021118284 @default.
• W2621244404 cites W2023506901 @default.
• W2621244404 cites W2026362568 @default.
• W2621244404 cites W2026996045 @default.
• W2621244404 cites W2032066998 @default.
• W2621244404 cites W2035203629 @default.
• W2621244404 cites W2036523261 @default.
• W2621244404 cites W2041597883 @default.
• W2621244404 cites W2046598182 @default.
• W2621244404 cites W2047586634 @default.
• W2621244404 cites W2049133549 @default.
• W2621244404 cites W2050231965 @default.
• W2621244404 cites W2054665634 @default.
• W2621244404 cites W2055770610 @default.
• W2621244404 cites W2063044256 @default.
• W2621244404 cites W2064956622 @default.
• W2621244404 cites W2071193398 @default.
• W2621244404 cites W2071863877 @default.
• W2621244404 cites W2078218951 @default.
• W2621244404 cites W2078502768 @default.
• W2621244404 cites W2078801384 @default.
• W2621244404 cites W2082115255 @default.
• W2621244404 cites W2085902087 @default.
• W2621244404 cites W2091916337 @default.
• W2621244404 cites W2093905016 @default.
• W2621244404 cites W2096025553 @default.
• W2621244404 cites W2101376056 @default.
• W2621244404 cites W2117929216 @default.
• W2621244404 cites W2118094114 @default.
• W2621244404 cites W2120463449 @default.
• W2621244404 cites W2122129374 @default.
• W2621244404 cites W2124821411 @default.
• W2621244404 cites W2125757419 @default.
• W2621244404 cites W2128129575 @default.
• W2621244404 cites W2134890602 @default.
• W2621244404 cites W2137690953 @default.
• W2621244404 cites W2141242773 @default.
• W2621244404 cites W2141680498 @default.
• W2621244404 cites W2145002321 @default.
• W2621244404 cites W2146366182 @default.
• W2621244404 cites W2148430299 @default.
• W2621244404 cites W2148523790 @default.
• W2621244404 cites W2159498354 @default.
• W2621244404 cites W2162139554 @default.
• W2621244404 cites W2163449369 @default.
• W2621244404 cites W2165981075 @default.
• W2621244404 cites W2189465456 @default.
• W2621244404 cites W2233202955 @default.
• W2621244404 cites W2288914183 @default.
• W2621244404 cites W2343865241 @default.
• W2621244404 cites W2343996088 @default.
• W2621244404 cites W2395623505 @default.
• W2621244404 cites W2396934638 @default.
• W2621244404 cites W2408557296 @default.
• W2621244404 cites W2409177390 @default.
• W2621244404 cites W4211146114 @default.
• W2621244404 cites W4247124180 @default.
• W2621244404 cites W4248043920 @default.
• W2621244404 cites W86409836 @default.
• W2621244404 doi "https://doi.org/10.1371/journal.pone.0178776" @default.
• W2621244404 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5456385" @default.
• W2621244404 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28575107" @default.
• W2621244404 hasPublicationYear "2017" @default.
• W2621244404 type Work @default.

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