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La Génétique et les modes de transmission

C’est une maladie génétique transmise selon le mode récessif (sauf pour les très rares patients du groupe B) et très hétérogène : 13 gènes ont été identifiés jusqu’à présent. Le rôle des protéines correspondantes est encore mal connu.

Ces gènes sont appelés FANCA, FANCB, FANCC, FANCD1 (également connu sous le nom BRCA2 ce gène est impliqué dans les cancers du sein familiaux), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM et FANCN. Ils sont tous portés par des chromosomes autosomes, sauf le gène FANCB qui est porté par le chromosome X, expliquant pourquoi les patients de ce groupe sont tous des garçons ; c’est le seul groupe pour lequel la transmission est liée au sexe.

Le gène le plus souvent en cause est le gène FANCA impliqué chez deux-tiers des patients. Des mutations de FANCA, FANCC, FANCG ou FANCD2 sont retrouvées chez plus de 90% des patients. Les autres gènes sont très rarement en cause avec pour certains d’entre eux moins de 5 malades connus.

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