Matches in SemOpenAlex for { <https://semopenalex.org/work/W2011454310> ?p ?o ?g. }
- W2011454310 endingPage "254" @default.
- W2011454310 startingPage "245" @default.
- W2011454310 abstract "Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9." @default.
- W2011454310 created "2016-06-24" @default.
- W2011454310 creator A5005124800 @default.
- W2011454310 creator A5007424429 @default.
- W2011454310 creator A5010741320 @default.
- W2011454310 creator A5012180508 @default.
- W2011454310 creator A5020831595 @default.
- W2011454310 creator A5023667273 @default.
- W2011454310 creator A5030032251 @default.
- W2011454310 creator A5030770731 @default.
- W2011454310 creator A5033960029 @default.
- W2011454310 creator A5034433124 @default.
- W2011454310 creator A5034544816 @default.
- W2011454310 creator A5048819576 @default.
- W2011454310 creator A5049975246 @default.
- W2011454310 creator A5050357869 @default.
- W2011454310 creator A5051077025 @default.
- W2011454310 creator A5052691363 @default.
- W2011454310 creator A5053217861 @default.
- W2011454310 creator A5061298063 @default.
- W2011454310 creator A5065121702 @default.
- W2011454310 creator A5066619883 @default.
- W2011454310 creator A5066787545 @default.
- W2011454310 creator A5067884425 @default.
- W2011454310 creator A5069259708 @default.
- W2011454310 creator A5069576740 @default.
- W2011454310 creator A5071686356 @default.
- W2011454310 creator A5072103440 @default.
- W2011454310 creator A5077211212 @default.
- W2011454310 creator A5081984561 @default.
- W2011454310 creator A5083110534 @default.
- W2011454310 creator A5087299465 @default.
- W2011454310 creator A5088917644 @default.
- W2011454310 creator A5090508414 @default.
- W2011454310 date "2010-12-17" @default.
- W2011454310 modified "2023-10-14" @default.
- W2011454310 title "Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)" @default.
- W2011454310 cites W1520580849 @default.
- W2011454310 cites W1538930506 @default.
- W2011454310 cites W1964020724 @default.
- W2011454310 cites W1964029491 @default.
- W2011454310 cites W1969823090 @default.
- W2011454310 cites W1978828082 @default.
- W2011454310 cites W1980565357 @default.
- W2011454310 cites W1984342015 @default.
- W2011454310 cites W1987506447 @default.
- W2011454310 cites W1993748871 @default.
- W2011454310 cites W2007420407 @default.
- W2011454310 cites W2007920489 @default.
- W2011454310 cites W2016742004 @default.
- W2011454310 cites W2020375248 @default.
- W2011454310 cites W2021331419 @default.
- W2011454310 cites W2026057304 @default.
- W2011454310 cites W2031787399 @default.
- W2011454310 cites W2057276264 @default.
- W2011454310 cites W2058986664 @default.
- W2011454310 cites W2064867939 @default.
- W2011454310 cites W2068942465 @default.
- W2011454310 cites W2072038834 @default.
- W2011454310 cites W2072573412 @default.
- W2011454310 cites W2080926014 @default.
- W2011454310 cites W2081086168 @default.
- W2011454310 cites W2091917085 @default.
- W2011454310 cites W2096857955 @default.
- W2011454310 cites W2098913221 @default.
- W2011454310 cites W2104743461 @default.
- W2011454310 cites W2115495329 @default.
- W2011454310 cites W2121858421 @default.
- W2011454310 cites W2122573338 @default.
- W2011454310 cites W2128300793 @default.
- W2011454310 cites W2130551481 @default.
- W2011454310 cites W2135814865 @default.
- W2011454310 cites W2140338936 @default.
- W2011454310 cites W2145297551 @default.
- W2011454310 cites W2145366285 @default.
- W2011454310 cites W2146030548 @default.
- W2011454310 cites W2147248889 @default.
- W2011454310 cites W2151625832 @default.
- W2011454310 cites W2156163096 @default.
- W2011454310 cites W2156286678 @default.
- W2011454310 cites W2156707124 @default.
- W2011454310 cites W2158149329 @default.
- W2011454310 cites W2160191936 @default.
- W2011454310 cites W2163830096 @default.
- W2011454310 cites W2164373103 @default.
- W2011454310 doi "https://doi.org/10.1007/s10689-010-9408-8" @default.
- W2011454310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3100490" @default.
- W2011454310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21165777" @default.
- W2011454310 hasPublicationYear "2010" @default.
- W2011454310 type Work @default.
- W2011454310 sameAs 2011454310 @default.
- W2011454310 citedByCount "20" @default.
- W2011454310 countsByYear W20114543102012 @default.
- W2011454310 countsByYear W20114543102013 @default.
- W2011454310 countsByYear W20114543102014 @default.
- W2011454310 countsByYear W20114543102016 @default.
- W2011454310 countsByYear W20114543102018 @default.
- W2011454310 countsByYear W20114543102019 @default.