| Title |
Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes
|
|---|---|
| Published in |
Nature Communications, October 2017
|
| DOI | 10.1038/s41467-017-00921-w |
| Pubmed ID | |
| Authors |
Nadeem Riaz, Pedro Blecua, Raymond S. Lim, Ronglai Shen, Daniel S. Higginson, Nils Weinhold, Larry Norton, Britta Weigelt, Simon N. Powell, Jorge S. Reis-Filho |
| Abstract |
BRCA1 and BRCA2 are involved in homologous recombination (HR) DNA repair and are germ-line cancer pre-disposition genes that result in a syndrome of hereditary breast and ovarian cancer (HBOC). Whether germ-line or somatic alterations in these genes or other members of the HR pathway and if mono- or bi-allelic alterations of HR-related genes have a phenotypic impact on other cancers remains to be fully elucidated. Here, we perform a pan-cancer analysis of The Cancer Genome Atlas (TCGA) data set and observe that bi-allelic pathogenic alterations in homologous recombination (HR) DNA repair-related genes are prevalent across many malignancies. These bi-allelic alterations often associate with genomic features of HR deficiency. Further, in ovarian, breast and prostate cancers, bi-allelic alterations are mutually exclusive of each other. The combination of these two properties facilitates reclassification of variants of unknown significance affecting DNA repair genes, and may help personalize HR directed therapies in the clinic.Germline mutations in homologous recombination (HR) DNA repair genes are linked to breast and ovarian cancer. Here, the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other cancer types and associated with genomic features of HR deficiency, expanding the potential use of HR-directed therapies. |
X Demographics
The data shown below were collected from the profiles of 85 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 33 | 39% |
| United Kingdom | 8 | 9% |
| Spain | 4 | 5% |
| France | 3 | 4% |
| Finland | 2 | 2% |
| Australia | 2 | 2% |
| China | 2 | 2% |
| Guinea | 1 | 1% |
| Canada | 1 | 1% |
| Other | 4 | 5% |
| Unknown | 25 | 29% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 42 | 49% |
| Members of the public | 35 | 41% |
| Science communicators (journalists, bloggers, editors) | 4 | 5% |
| Practitioners (doctors, other healthcare professionals) | 4 | 5% |
Mendeley readers
The data shown below were compiled from readership statistics for 214 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 214 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 50 | 23% |
| Student > Ph. D. Student | 47 | 22% |
| Student > Master | 16 | 7% |
| Student > Doctoral Student | 11 | 5% |
| Other | 11 | 5% |
| Other | 26 | 12% |
| Unknown | 53 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 61 | 29% |
| Agricultural and Biological Sciences | 34 | 16% |
| Medicine and Dentistry | 33 | 15% |
| Computer Science | 9 | 4% |
| Pharmacology, Toxicology and Pharmaceutical Science | 4 | 2% |
| Other | 13 | 6% |
| Unknown | 60 | 28% |
Attention Score in Context
This research output has an Altmetric Attention Score of 47. 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 17 February 2019.
All research outputs
#914,532
of 25,736,439 outputs
Outputs from Nature Communications
#15,161
of 58,275 outputs
Outputs of similar age
#18,801
of 334,644 outputs
Outputs of similar age from Nature Communications
#419
of 1,364 outputs
Altmetric has tracked 25,736,439 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 58,275 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.4. This one has gotten more attention than average, scoring higher than 73% of its peers.
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