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CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.

Sodha N, Bullock S, Taylor R, Mitchell G, Guertl-Lackner B, Williams RD, Bevan S, Bishop K, McGuire S, Houlston RS, Eeles RA - Br. J. Cancer (2002)

Bottom Line: Five of these individuals were found to harbour germline variants in CHEK2.These two missense variants reside within the Forkhead-associated domain of CHEK2, which is important for the function of the expressed protein.Microdissected tumours with a germline mutation showed loss of the mutant allele suggesting a mechanism for tumorigenesis other than a loss of the wild type allele.

View Article: PubMed Central - PubMed

Affiliation: Royal Marsden NHS Trust, Downs Road, Sutton, Surrey SM2 5PT, UK. nayanta@icr.ac.uk

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Related in: MedlinePlus

Genescans of the microsatellite marker D22S275. (A–C) Germline DNA of individuals with the 1100delC variant (D) tumour DNA of case D11 (E) germline DNA of case G11 who harbours the variant Arg117Gly and (F) tumour DNA of G11. There is a loss of heterozygosity in tumour DNA from both the cases.
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fig3: Genescans of the microsatellite marker D22S275. (A–C) Germline DNA of individuals with the 1100delC variant (D) tumour DNA of case D11 (E) germline DNA of case G11 who harbours the variant Arg117Gly and (F) tumour DNA of G11. There is a loss of heterozygosity in tumour DNA from both the cases.

Mentions: Figure 3Figure 3


CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.

Sodha N, Bullock S, Taylor R, Mitchell G, Guertl-Lackner B, Williams RD, Bevan S, Bishop K, McGuire S, Houlston RS, Eeles RA - Br. J. Cancer (2002)

Genescans of the microsatellite marker D22S275. (A–C) Germline DNA of individuals with the 1100delC variant (D) tumour DNA of case D11 (E) germline DNA of case G11 who harbours the variant Arg117Gly and (F) tumour DNA of G11. There is a loss of heterozygosity in tumour DNA from both the cases.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2376278&req=5

fig3: Genescans of the microsatellite marker D22S275. (A–C) Germline DNA of individuals with the 1100delC variant (D) tumour DNA of case D11 (E) germline DNA of case G11 who harbours the variant Arg117Gly and (F) tumour DNA of G11. There is a loss of heterozygosity in tumour DNA from both the cases.
Mentions: Figure 3Figure 3

Bottom Line: Five of these individuals were found to harbour germline variants in CHEK2.These two missense variants reside within the Forkhead-associated domain of CHEK2, which is important for the function of the expressed protein.Microdissected tumours with a germline mutation showed loss of the mutant allele suggesting a mechanism for tumorigenesis other than a loss of the wild type allele.

View Article: PubMed Central - PubMed

Affiliation: Royal Marsden NHS Trust, Downs Road, Sutton, Surrey SM2 5PT, UK. nayanta@icr.ac.uk

Show MeSH
Related in: MedlinePlus