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Tout savoir sur les cancers héréditaires !
Chaque année, plus de 18 millions de personnes reçoivent un diagnostic de cancer dans le monde. Actuellement, on considère que la genèse des cancers est de deux types : les cancers héréditaires et les cancers sporadiques. Dans cet article, professeur Metin Çakmakçı du Centre Médical Anadolu a mis en avant des précisions concernant les cancers héréditaires, expliquant explore les distinctions et les implications pour les patients et leurs familles.
Le cancer résulte de modifications dans une ou plusieurs cellules qui composent nos organes et tissus. Ces changements surviennent à l’intérieur des cellules, dans les gènes du noyau, qui déterminent leur comportement, leur multiplication et les protéines qu’elles produisent.
Lorsque des troubles ou des mutations apparaissent dans ces gènes, la cellule commence à se comporter différemment. Elle ne peut plus faire face aux substances nocives qui s’accumulent avec l’âge, ne parvient plus à se réparer et adopte un comportement incorrect.
Certaines cellules subissent des dommages irréparables au niveau de leur structure génétique et se transforment en cellules cancéreuses . Les mutations génétiques sont la cause de tous les cancers. Ces dommages peuvent résulter d’effets nocifs de l’environnement physique, comme des produits chimiques ou des radiations, des hormones, des virus, une alimentation inadéquate, ou simplement du vieillissement cellulaire.
Prolifération et évolution des cellules cancéreuses, un processus long et complexe ! Les cellules cancéreuses commencent à se multiplier de manière incontrôlable et plus rapide que la normale. En proliférant, elles peuvent pénétrer dans les tissus sains voisins et se détacher du tissu d’origine pour migrer vers d’autres tissus via le sang ou les canaux lymphatiques. Contrairement aux cellules saines, elles ne peuvent pas adhérer correctement aux nouveaux tissus, mais elles s’y installent et s’y multiplient.
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Les masses formées par cette prolifération sont des tumeurs, diagnostiquées comme cancer. Lorsque ces cellules prolifèrent à distance, elles forment des tumeurs secondaires, appelées métastases. Toutes les cellules cancéreuses contiennent plusieurs mutations génétiques nocives. Les étapes nécessaires, depuis ces mutations jusqu’à l’apparition de la tumeur, se déroulent généralement sur des années.
Les modifications génétiques dans le noyau cellulaire s’accumulent lentement, transformant finalement la cellule concernée en cellule cancéreuse. La majorité des cancers se développent de cette manière, débutant par des dommages dans une ou quelques cellules et apparaissant souvent à un âge plus avancé. Ainsi, le développement du cancer est un processus complexe et long, influencé par de multiples facteurs génétiques et environnementaux.
Comment se transmettent les cancers héréditaires ? Dans certains cas, une mutation génétique nocive pouvant causer le cancer est transmise de la mère ou du père au nouveau-né. Ainsi, l’enfant naît avec cette mutation et développe le cancer à un âge plus avancé. Ces cas sont appelés « cancers héréditaires » . À l’inverse, d’autres cancers, qui ne sont pas héréditaires et se développent au fil du temps, sont également d’origine génétique. Ils représentent environ 80 à 90 % des cancers et sont qualifiés de « cancers sporadiques » .
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D’ailleurs, il est important de noter qu’un parent porteur d’un gène endommagé pouvant causer le cancer a 50 % de chances de transmettre ce gène défectueux à son enfant, qu’il soit lui-même atteint ou pas.
Cancer héréditaire : quels sont les types les plus fréquents ? Le cancer est une maladie courante , et plusieurs membres d’une même famille peuvent en être atteints sans que cela indique nécessairement un cancer héréditaire. Toutefois, la répétition du même type de cancer (ou de cancers liés à des lésions génétiques similaires, comme ceux du sein et de l’ovaire) sur plusieurs générations ou chez plusieurs membres d’une même génération suggère un caractère héréditaire.
Les cancers héréditaires apparaissent souvent à un âge plus précoce, peuvent être plus agressifs et présentent des caractéristiques distinctes au microscope. Leur réponse au traitement et leur sensibilité à certains médicaments peuvent également différer.
Voici les mutations génétiques connues et les cancers qu’elles provoquent ! Les connaissances sur les mutations génétiques cancérigènes ont beaucoup progressé. Les mutations des gènes BRCA1 et BRCA2 sont parmi les mieux connues. D’autres gènes, tels que PALB2, ATM, CHEK2, PTEN, TP53, CDH1, STK11, NF1, MLH1, MSH2, MSH6, PMS2, EPCAM, et BRIP1, sont aussi identifiés, et leur nombre continue d’augmenter. Il existe des centaines de mutations différentes dans les seuls gènes BRCA1 et BRCA2, rendant la question plus complexe qu’elle n’y paraît.
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Les enfants qui héritent de ces gènes mutés de leurs parents ont un risque beaucoup plus élevé que la moyenne de développer un cancer plus tard dans leur vie. Ainsi, comprendre les différences entre cancers héréditaires et sporadiques est crucial pour une approche thérapeutique adaptée et pour mieux appréhender les risques liés aux mutations génétiques.
Pourquoi les tests génétiques ne sont pas réalisés pour tout le monde ? L’analyse du code génétique à l’intérieur des cellules et des expressions génétiques anormales est un processus complexe, long et coûteux, généralement effectué par des laboratoires privés. La technologie et les installations médicales actuelles ne permettent pas d’effectuer ces analyses sur tous les patients atteints de cancer ou leurs proches, car la probabilité d’obtenir un résultat significatif reste faible.
Prenons l’exemple d’une patiente atteinte d’un cancer du sein . Des tests génétiques doivent être envisagés si elle présente l’une des conditions suivantes :
Diagnostic avant 45 ans,
Cancer des deux seins,
Un ou plusieurs proches atteints de cancer du sein, des ovaires, du pancréas ou de la prostate,
Cancer du sein de type « triple négatif »,
Cancer du sein chez un homme ou un parent masculin atteint. Dans ces cas, une analyse génétique approfondie est nécessaire.
Cancer du sein : héritage et dépistage Environ 10 % des cancers du sein sont héréditaires , tandis que 90 % sont sporadiques. Ainsi, un dixième des patientes a hérité d’un gène endommagé à la naissance. Les gènes BRCA1 et BRCA2 sont souvent en cause. Dans les cas à forte probabilité d’hérédité, des panels génétiques élargis doivent être examinés, incluant d’autres gènes en plus des BRCA1 et BRCA2.
Les mutations peuvent être transmises par la mère ou le père, il est donc incorrect de n’interroger que le côté maternel. La plupart des cancers du sein étant sporadiques, l’absence d’antécédents familiaux ne garantit pas l’absence de risque.
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Les personnes présentant des mutations significatives dans leurs gènes BRCA ont une probabilité de 55 à 85 % de développer un cancer du sein . Pour cette raison, il est recommandé aux porteurs de subir :
Un examen des seins tous les six mois après 25 ans,
Une IRM des seins annuelle après 25 ans,
Une mammographie annuelle après 30 ans. Gestion du risque de cancer chez les porteurs de mutations BRCA : options et recommandations ! En l’absence de traitement génétique préventif , les médecins doivent discuter et recommander la mastectomie bilatérale (ablation des tissus mammaires) et la reconstruction mammaire avec prothèse aux personnes à risque. Si la personne ne souhaite pas de chirurgie, les traitements hormonaux peuvent réduire le risque sans l’éliminer.
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Les porteurs de mutations BRCA présentent aussi un risque élevé de cancer de l’ovaire. Par conséquent, les médecins recommandent de procéder à :
Un examen gynécologique annuel après 30 ans,
L’ablation chirurgicale des ovaires et des trompes entre 35 et 40 ans pour les mutations BRCA1, et entre 40 et 45 ans pour les mutations BRCA2. Aucun changement de nutrition ou de mode de vie n’a démontré de bénéfice notable contre ces types de cancers héréditaires . Les tests génétiques ciblés, la surveillance accrue et les interventions chirurgicales préventives restent les meilleures approches pour gérer le risque chez les individus porteurs de mutations génétiques.