Cancer is undoubtedly one of the greatest risks in the Ataxia Telangiectasia, in fact, second to lung infections.

About ¼ of people with AT develop cancer, the risk increasing with age.

The incidence of cancer is also higher in families of patients with AT.



"Cancer" includes a large number of diseases that are sometimes expressed in a visible way: skin, growing tumors ..., but not always: cancer affecting blood cells by the bone marrow in an organ (lung, bone) before symptoms appear. But they all have some common points:

The video above shows the formation of a cancerous tumor that can not grow beyond a certain size (1mm) without recruiting its own network of blood vessels to provide nutrients to cancer cells for their development: this is angiogenesis. It shows also how the metastases are spread in the body by the bloodstream.
  • Everyone is not equal in front of cancer: development of cancer depends on the genetic material of each individual. This explains the hereditary factor and the presence in families of a single type of cancer.
  • Environment and exposure to risk factors are also highly contributory factors (cigarettes, pollutants, radiation ...).
  • On a "healthy" subject, the development of cancer can take decades. The progressive weakening of the body's defenses can explain it.
  • All cancers are degeneration of cells that are not recognized as such by the immune system and thus can proliferate, increasingly altering the functioning of the body.

Process in AT

In the chapter "The ATM gene", it has been described the process which, during the cell cycle, allows in the body of patients with AT the multiplication of abnormal cells after double-strand breaks in DNA.

This corresponds perfectly to the definition of a cancer and explains the cancer cases observed among them: stomach, brain, ovaries, skin, liver, larynx, lung and parotid gland (the largest of the salivary glands).

In the vast majority of cases, cancers in patients with AT are leukemia ou des lymphoma, cancers of the immune system.


Cancers in families of children with AT

A heterozygote is a healthy carrier of a defective allele (an individual has two alleles, ie two copies of each gene). We, parents of children with ataxia telangiectasia, are heterozygous for a mutation in the ATM gene.

By the late 80s, researchers note that heterozygotes for mutations in ATM (parents, aunts and uncles, grandfathers, grandmothers, cousins, etc ...) have abnormally high cancer rates, breast cancer being the highest. But every study on the subject has its share of inaccuracies and their results do not get to a clear idea.

For this reason, in June 2003, a team of INSERM led by Prof. Dominique Stoppa-Lyonnet launches a study in France, as part of a large-scale international study on breast cancer and over a significant period of several years. This study is called CoF-AT



In summary, it is clear that one of the major and logical consequences of the lack of ATM protein is a very strong predisposition (X 1000) of AT children with cancer and especially those of the immune system.

We parents can do something for once just by preserving factors known to promote these conditions.

Of course, the sensitivity of people with AT to commonly used techniques in the fight against cancer, chemotherapy and radiotherapy, limits potential treatments. But it does not mean that treating cancer is impossible, far from that.

In reality, these treatments do not satisfy the researchers because they are not specific enough and cause damage to healthy parts of the body which is already weakened by the cancer itself, even if it is less and less true with new treatments. It's almost as if to catch a criminal for sure, the police fired into the crowd.

Many other more accurate ways are being considered (see Research), such as with stem cells, genetically modified viruses, nanoparticles ...

And since our children are hypersensitive to cancer, since the ATM gene is central to certain cancer process, then it is interesting for the research against cancer and by extension, against Ataxia Telangiectasia.

L' AT, c'est quoi?

L'ataxie télangiectasie (AT) est une maladie rare, neurodégénérative et immunodépressive, maladie héréditaire qui affecte de nombreuses parties du corps et provoque de graves incapacités... SUITE

La recherche

La recherche sur le gène ATM en France et dans le monde. Comment combattre une maladie comme l'ataxie télangiectasie? Les projets scientifiques d'AT Europe.


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Etudes ouvertes aux familles


La base de données française tenue par le CEREDIH, partenaire privilégié d'ATEurope, renferme probablement les données médicales les plus complètes au monde et toutes les mutations génétiques des personnes françaises atteintes d'AT. Parlez-en à vos médecins!

La base de données française


Dans le cadre de la recherche d'un lien entre cancer du sein et gène ATM, l'étude CoF-AT de l'institut Curie rassemble des données sur les femmes hétérozygotes pour ce gène, c'est-à-dire porteuses saines d'une copie déficiente du gène comme peuvent l'être les mamans des enfants atteints d'AT et d'autres membres de leur famille. Faites-vous connaître!

Étude CoF-AT
l'institut Curie

Global AT family data project

ATCP aux USA vient de mettre en place une base de données mondiale liée à l'AT. Complémentaire de celle du CEREDIH, elle permet aux familles concernées de transmettre des données qui n'étaient pas recueillies jusque là, comme les imageries de type IRM ou scanner ou des informations liées aux aptitudes, au comportement ou encore à l'alimentation, etc. Parallèlement, un programme de recueil de 500 génomes complets est mis en place. Vous pouvez participer!

La base mondiale des autres données

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