Fabian Pavel, Nenutil Rudolf
Cesk Patol. 2016 Fall;52(4):206-209.
Inherited mutations in BRCA1 and BRCA2 genes represent the most important cause of hereditary breast cancer. This highly penetrating familial cancer syndrome, including also the onset of ovarian cancer and other malignancies at relatively low age, represents a substantial medical problem. The affected families should be managed actively. When compared to spontaneous tumors, the breast carcinomas in BRCA1 mutation carriers exhibit a relatively different, despite non-specific, phenotype (often triple negative, medullary features) arousing suspicion of hereditary background. In the contrary, the distribution of phenotypes of breast carcinomas in BRCA2 carriers is similar to distribution in the non-affected population. The lymphocytic lobulitis is observed significantly more often in non-cancerous breast tissue of BRCA1/2 mutation carriers, but again, this feature is not specific.
BRCA1和BRCA2基因的遗传性突变是遗传性乳腺癌的最重要原因。这种具有高度外显率的家族性癌症综合征，还包括在相对年轻时发生卵巢癌和其他恶性肿瘤，是一个重大的医学问题。应对受影响的家庭进行积极管理。与自发性肿瘤相比，BRCA1突变携带者的乳腺癌表现出相对不同的（尽管是非特异性的）表型（通常为三阴性、髓样特征），这引发了对遗传背景的怀疑。相反，BRCA2携带者中乳腺癌的表型分布与非受影响人群中的分布相似。在BRCA1/2突变携带者的非癌性乳腺组织中，淋巴细胞性小叶炎的观察频率明显更高，但同样，这一特征也不具有特异性。
