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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

The pedigrees of the breast cancer cases with germline mutations in CHEK2 (individuals harbouring the mutation are arrowed). The trees have been altered to preserve anonymity, but not alter the meaning of the report.
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Related In: Results  -  Collection


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fig1: The pedigrees of the breast cancer cases with germline mutations in CHEK2 (individuals harbouring the mutation are arrowed). The trees have been altered to preserve anonymity, but not alter the meaning of the report.

Mentions: The full coding sequence of CHEK2 was screened for mutations in all 68 patients. Six sequence variants were identified. Figure 1Figure 1


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)

The pedigrees of the breast cancer cases with germline mutations in CHEK2 (individuals harbouring the mutation are arrowed). The trees have been altered to preserve anonymity, but not alter the meaning of the report.
© Copyright Policy
Related In: Results  -  Collection

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

fig1: The pedigrees of the breast cancer cases with germline mutations in CHEK2 (individuals harbouring the mutation are arrowed). The trees have been altered to preserve anonymity, but not alter the meaning of the report.
Mentions: The full coding sequence of CHEK2 was screened for mutations in all 68 patients. Six sequence variants were identified. Figure 1Figure 1

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