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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

Partial sequences of exon 10 and exon 2 of CHEK2. (A) wild type reverse sequence of exon 10 (B) germline reverse sequence of exon 10 from case D11 (C) reverse sequence of exon 10 from tumour DNA from case D11 (D) wild type forward sequence of exon 2 (E) germline forward sequence of exon 2 from case G11 (F) forward sequence of exon 2 from tumour DNA from case G11. The wild type allele is retained and there is a low level signal of the mutant allele in both the sequences of tumour DNA in (C) and (F) (arrowed).
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fig2: Partial sequences of exon 10 and exon 2 of CHEK2. (A) wild type reverse sequence of exon 10 (B) germline reverse sequence of exon 10 from case D11 (C) reverse sequence of exon 10 from tumour DNA from case D11 (D) wild type forward sequence of exon 2 (E) germline forward sequence of exon 2 from case G11 (F) forward sequence of exon 2 from tumour DNA from case G11. The wild type allele is retained and there is a low level signal of the mutant allele in both the sequences of tumour DNA in (C) and (F) (arrowed).

Mentions: Paraffin embedded tissue was available from the two patients with the 1100delC variant (B9 and D11) and the patient with the Arg117Gly variant (G11). Analysis of tumour DNA from B9 showed no evidence of allelic imbalance by sequencing. Sequencing of relevant exons from tumour DNA from D11 and G11, however, showed that the mutant allele was lost and the wild type allele retained (Figure 2Figure 2


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)

Partial sequences of exon 10 and exon 2 of CHEK2. (A) wild type reverse sequence of exon 10 (B) germline reverse sequence of exon 10 from case D11 (C) reverse sequence of exon 10 from tumour DNA from case D11 (D) wild type forward sequence of exon 2 (E) germline forward sequence of exon 2 from case G11 (F) forward sequence of exon 2 from tumour DNA from case G11. The wild type allele is retained and there is a low level signal of the mutant allele in both the sequences of tumour DNA in (C) and (F) (arrowed).
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Related In: Results  -  Collection

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

fig2: Partial sequences of exon 10 and exon 2 of CHEK2. (A) wild type reverse sequence of exon 10 (B) germline reverse sequence of exon 10 from case D11 (C) reverse sequence of exon 10 from tumour DNA from case D11 (D) wild type forward sequence of exon 2 (E) germline forward sequence of exon 2 from case G11 (F) forward sequence of exon 2 from tumour DNA from case G11. The wild type allele is retained and there is a low level signal of the mutant allele in both the sequences of tumour DNA in (C) and (F) (arrowed).
Mentions: Paraffin embedded tissue was available from the two patients with the 1100delC variant (B9 and D11) and the patient with the Arg117Gly variant (G11). Analysis of tumour DNA from B9 showed no evidence of allelic imbalance by sequencing. Sequencing of relevant exons from tumour DNA from D11 and G11, however, showed that the mutant allele was lost and the wild type allele retained (Figure 2Figure 2

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