| Title |
Analysis of KLLN as a high-penetrance breast cancer predisposition gene
|
|---|---|
| Published in |
Breast Cancer Research and Treatment, May 2012
|
| DOI | 10.1007/s10549-012-2088-3 |
| Pubmed ID | |
| Authors |
Ella R. Thompson, Kylie L. Gorringe, David Y. H. Choong, Diana M. Eccles, kConFab, Gillian Mitchell, Ian G. Campbell |
| Abstract |
KLLN is a p53 target gene with DNA binding function and represents a highly plausible candidate breast cancer predisposition gene. We screened for predisposing variants in 860 high-risk breast cancer families using high resolution melt analysis. A germline c.339_340delAG variant predicted to cause premature termination of the protein after 57 alternative amino acid residues was identified in 3/860 families who tested negative for BRCA1 and BRCA2 mutations and in 1/84 sporadic breast cancer cases. However, the variant was also detected in 2/182 families with known BRCA1 or BRCA2 mutations and in 2/464 non-cancer controls. Furthermore, loss of the mutant allele was detected in 2/2 breast tumors. Our data suggest that pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 17% |
| Other | 2 | 11% |
| Student > Doctoral Student | 2 | 11% |
| Librarian | 1 | 6% |
| Professor | 1 | 6% |
| Other | 3 | 17% |
| Unknown | 6 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 28% |
| Biochemistry, Genetics and Molecular Biology | 3 | 17% |
| Agricultural and Biological Sciences | 1 | 6% |
| Linguistics | 1 | 6% |
| Chemistry | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 6 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 May 2012.
All research outputs
#15,243,549
of 22,665,794 outputs
Outputs from Breast Cancer Research and Treatment
#3,262
of 4,615 outputs
Outputs of similar age
#104,070
of 163,463 outputs
Outputs of similar age from Breast Cancer Research and Treatment
#36
of 45 outputs
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