Matches in SemOpenAlex for { <https://semopenalex.org/work/W2564033609> ?p ?o ?g. }
- W2564033609 abstract "Li-Fraumeni syndrome (LFS) is a highly penetrant familial cancer syndrome associated with inherited germline mutations in TP53. However, a causative gene has not been identified in ~25% of LFS and many LFS-like families. In this work we aim to discover possible candidate genes that contribute to the highly penetrant cancer predisposition observed in these families. We designed an ultra high-resolution CGH array to interrogate genes implicated in cancer. We detected alterations in genes such as MSH2 and PTCH1 which were successfully validated by qPCR. This also led to the detection of a novel substitution in a family by sequencing of PTCH1. Upon further investigation, we found that the proband harbouring the MSH2 deletion belongs to a kindred that satisfies the criteria for Lynch syndrome. Both the methodology and the results of this study can be expanded upon in the future to hopefully identify additional causative genes in LFS.%%%%M.Sc." @default.
- W2564033609 created "2017-01-06" @default.
- W2564033609 creator A5017880913 @default.
- W2564033609 date "2014-11-01" @default.
- W2564033609 modified "2023-09-26" @default.
- W2564033609 title "Identification of Cancer Susceptibility Loci by High-resolution Cancer Gene Microarray Analysis" @default.
- W2564033609 cites W1491186834 @default.
- W2564033609 cites W1513040434 @default.
- W2564033609 cites W1515727599 @default.
- W2564033609 cites W1526548658 @default.
- W2564033609 cites W1550564711 @default.
- W2564033609 cites W1558366281 @default.
- W2564033609 cites W1677141414 @default.
- W2564033609 cites W176506177 @default.
- W2564033609 cites W1798017247 @default.
- W2564033609 cites W1874768599 @default.
- W2564033609 cites W1903612054 @default.
- W2564033609 cites W1937607074 @default.
- W2564033609 cites W1964013868 @default.
- W2564033609 cites W1966176339 @default.
- W2564033609 cites W1966955143 @default.
- W2564033609 cites W1967285173 @default.
- W2564033609 cites W1967746532 @default.
- W2564033609 cites W1969044026 @default.
- W2564033609 cites W1972254989 @default.
- W2564033609 cites W1972543680 @default.
- W2564033609 cites W1975435917 @default.
- W2564033609 cites W1976884749 @default.
- W2564033609 cites W1977279428 @default.
- W2564033609 cites W1978518304 @default.
- W2564033609 cites W1978883726 @default.
- W2564033609 cites W1979685702 @default.
- W2564033609 cites W1980740976 @default.
- W2564033609 cites W1983430515 @default.
- W2564033609 cites W1985764154 @default.
- W2564033609 cites W1986076152 @default.
- W2564033609 cites W1986179131 @default.
- W2564033609 cites W1988756673 @default.
- W2564033609 cites W1989706143 @default.
- W2564033609 cites W1990143243 @default.
- W2564033609 cites W1991483235 @default.
- W2564033609 cites W1993864973 @default.
- W2564033609 cites W1995130016 @default.
- W2564033609 cites W1996813579 @default.
- W2564033609 cites W1997073961 @default.
- W2564033609 cites W2001471795 @default.
- W2564033609 cites W2004637409 @default.
- W2564033609 cites W2004706142 @default.
- W2564033609 cites W2005125669 @default.
- W2564033609 cites W2007023752 @default.
- W2564033609 cites W2007364430 @default.
- W2564033609 cites W2010378709 @default.
- W2564033609 cites W2010732143 @default.
- W2564033609 cites W2010787018 @default.
- W2564033609 cites W2012711829 @default.
- W2564033609 cites W2013919595 @default.
- W2564033609 cites W2014563476 @default.
- W2564033609 cites W2014606320 @default.
- W2564033609 cites W2018338006 @default.
- W2564033609 cites W2021714239 @default.
- W2564033609 cites W2023598285 @default.
- W2564033609 cites W2024996523 @default.
- W2564033609 cites W2025785990 @default.
- W2564033609 cites W2030931871 @default.
- W2564033609 cites W2031377991 @default.
- W2564033609 cites W2032235622 @default.
- W2564033609 cites W2033613174 @default.
- W2564033609 cites W2034526956 @default.
- W2564033609 cites W2034882416 @default.
- W2564033609 cites W2034979835 @default.
- W2564033609 cites W2036193202 @default.
- W2564033609 cites W2037736355 @default.
- W2564033609 cites W2038047957 @default.
- W2564033609 cites W2039538969 @default.
- W2564033609 cites W2041975075 @default.
- W2564033609 cites W2044352858 @default.
- W2564033609 cites W2045086385 @default.
- W2564033609 cites W2045849681 @default.
- W2564033609 cites W2046081435 @default.
- W2564033609 cites W2046410291 @default.
- W2564033609 cites W2046661986 @default.
- W2564033609 cites W2047043963 @default.
- W2564033609 cites W2049727086 @default.
- W2564033609 cites W2052202220 @default.
- W2564033609 cites W2053833990 @default.
- W2564033609 cites W2054549064 @default.
- W2564033609 cites W2055785460 @default.
- W2564033609 cites W2056001048 @default.
- W2564033609 cites W2056516604 @default.
- W2564033609 cites W2057805403 @default.
- W2564033609 cites W2057965100 @default.
- W2564033609 cites W2058005740 @default.
- W2564033609 cites W2059971620 @default.
- W2564033609 cites W2060559393 @default.
- W2564033609 cites W2061204651 @default.
- W2564033609 cites W2061680337 @default.
- W2564033609 cites W2061831714 @default.
- W2564033609 cites W2062716963 @default.
- W2564033609 cites W2063382533 @default.
- W2564033609 cites W2068135682 @default.