| Title |
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
|
|---|---|
| Published in |
Clinical Genetics, January 2016
|
| DOI | 10.1111/cge.12710 |
| Pubmed ID | |
| Authors |
N.J.H. van Os, N. Roeleveld, C.M.R. Weemaes, M.C.J. Jongmans, G.O. Janssens, A.M.R. Taylor, N. Hoogerbrugge, M.A.A.P. Willemsen |
| Abstract |
Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also carry a pathogenic ATM mutation. Female carriers of such a mutation have an increased risk of breast cancer. Other health risks for carriers are suspected, but have never been studied systematically. Consequently, evidence-based guidelines for carriers are not available yet. We systematically analyzed all literature and found that ATM mutation carriers have a reduced life expectancy due to mortality from cancer and ischemic heart diseases (RR 1.7, 95%CI 1.2-2.4) and an increased risk of developing cancer (RR 1.5, 95%CI 0.9-2.4), in particular breast cancer (RRwomen 3.0, 95%CI 2.1-4.5), and cancers of the digestive tract. Associations between ATM heterozygosity and other health risks have been suggested, but clear evidence is lacking. Based on these results, we propose that all female carriers 40-50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer. Furthermore, all carriers should be made aware of lifestyle factors that contribute to the development of cardiovascular diseases and diabetes. |
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 % |
|---|---|---|
| Argentina | 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 168 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | <1% |
| Italy | 1 | <1% |
| Unknown | 166 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 24 | 14% |
| Researcher | 23 | 14% |
| Other | 19 | 11% |
| Student > Ph. D. Student | 18 | 11% |
| Student > Bachelor | 14 | 8% |
| Other | 30 | 18% |
| Unknown | 40 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 47 | 28% |
| Biochemistry, Genetics and Molecular Biology | 35 | 21% |
| Agricultural and Biological Sciences | 17 | 10% |
| Nursing and Health Professions | 5 | 3% |
| Neuroscience | 5 | 3% |
| Other | 13 | 8% |
| Unknown | 46 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 13 March 2019.
All research outputs
#3,651,914
of 25,371,292 outputs
Outputs from Clinical Genetics
#192
of 2,634 outputs
Outputs of similar age
#60,460
of 407,493 outputs
Outputs of similar age from Clinical Genetics
#10
of 46 outputs
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