Evidence map›Paper›PMID 21829373›Full record

ArticlePLoS genetics2011

Genetic anticipation is associated with telomere shortening in hereditary breast cancer.

Beatriz Martinez-Delgado, Kira Yanowsky, Lucia Inglada-Perez, Samuel Domingo, Miguel Urioste, Ana Osorio, Javier Benitez

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed
6.6field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

49 citing papers in PubMed, 93 citations in OpenAlex.

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  10. Role of telomere shortening in anticipation of inflammatory bowel disease.World journal of gastrointestinal pharmacology and therapeutics · 2020
    Article
  11. The Importance of Telomere Shortening for Atherosclerosis and Mortality.Journal of cardiovascular development and disease · 2020
    Review
  12. Prediagnostic Leukocyte Telomere Length and Pancreatic Cancer Survival.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Beatriz Martinez-DelgadoHuman Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. bmartinez@cnio.es
Kira Yanowsky
Lucia Inglada-Perez
Samuel Domingo
Miguel Urioste
Ana Osorio
Javier Benitez
Centre for Biomedical Network Research on Rare Diseases · ESSpanish National Cancer Research Centre · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

There is increasing evidence suggesting that short telomeres and subsequent genomic instability contribute to malignant transformation. Telomere shortening has been described as a mechanism to explain genetic anticipation in dyskeratosis congenita and Li-Fraumeni syndrome. Since genetic anticipation has been observed in familial breast cancer, we aimed to study telomere length in familial breast cancer patients and hypothesized that genetic defects causing this disease would affect telomere maintenance resulting in shortened telomeres. Here, we first investigated age anticipation in mother-daughter pairs with breast cancer in 623 breast cancer families, classified as BRCA1, BRCA2, and BRCAX. Moreover, we analyzed telomere length in DNA from peripheral blood leukocytes by quantitative PCR in a set of 198 hereditary breast cancer patients, and compared them with 267 control samples and 71 sporadic breast cancer patients. Changes in telomere length in mother-daughter pairs from breast cancer families and controls were also evaluated to address differences through generations. We demonstrated that short telomeres characterize hereditary but not sporadic breast cancer. We have defined a group of BRCAX families with short telomeres, suggesting that telomere maintenance genes might be susceptibility genes for breast cancer. Significantly, we described that progressive telomere shortening is associated with earlier onset of breast cancer in successive generations of affected families. Our results provide evidence that telomere shortening is associated with earlier age of cancer onset in successive generations, suggesting that it might be a mechanism of genetic anticipation in hereditary breast cancer.

Indexed as

Anticipation, GeneticAdolescentAdultAgedAge of OnsetBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleHeterozygoteHumansMiddle AgedMutationPedigreeTelomere ShorteningYoung AdultBRCA1 ProteinBRCA2 Protein

Identifiers

PMID21829373
PMCPMC3145621
OpenAlexW2059971620

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.