Cussenot Olivier, Cancel-Tassin Géraldine
AP-HP, hôpital Tenon, service d'urologie, CeRePP, GHU Est, 4, rue de la Chine, 75970 Paris cedex 20, France; UPMC université Paris 06, GRC n(o) 5, Oncotype-Uro, Paris, France; Hôpital de la Salpêtrière, CeRePP, Paris, France.
UPMC université Paris 06, GRC n(o) 5, Oncotype-Uro, Paris, France; Hôpital de la Salpêtrière, CeRePP, Paris, France.
Bull Cancer. 2015 Jan;102(1):53-6. doi: 10.1016/j.bulcan.2014.12.007. Epub 2014 Dec 29.
Genetic predisposition to prostate cancer rarely corresponds to a high penetrance Mendelian pattern of inheritance. These hereditary forms are specific entities for which mutations in the BRCA2 gene, the HOXB13 gene (variant G84E) or, to a lesser extent BRCA1 gene, must be researched. In contrast, the genetic component of the majority of prostate cancer is polygenic, involving an unfavorable combination of common genetic variants, resulting from a mixture of the genetic inheritance of the father and the mother. One hundred of these genetic susceptibility variants have now been identified and validated. The main phenotypic trait associated with hereditary predisposition is the younger age at onset, which warrants special monitoring in order to stay in the window of curability at diagnosis. The psychological impact of a family history of prostate cancer or breast cancer favors the establishment of a dedicated monitoring and procedures for early diagnosis.
前列腺癌的遗传易感性很少符合高外显率的孟德尔遗传模式。这些遗传形式是特定的实体,对于它们,必须研究BRCA2基因、HOXB13基因(G84E变体)的突变,或者在较小程度上研究BRCA1基因的突变。相比之下,大多数前列腺癌的遗传成分是多基因的,涉及常见遗传变异的不利组合,这是由父亲和母亲的遗传混合导致的。目前已经鉴定并验证了其中100种遗传易感性变体。与遗传易感性相关的主要表型特征是发病年龄较轻,这就需要进行特殊监测,以便在诊断时仍处于可治愈的窗口期。前列腺癌或乳腺癌家族史的心理影响有利于建立专门的监测和早期诊断程序。