小孙夫妇来到仁济北院优生与遗传咨询门诊，医生告诉他们，此变异评级为致病性，与家族性乳腺癌——卵巢癌易感性1型相关，变异携带者早发乳腺癌或卵巢癌的风险增加，建议小孙关注相关身体症状及体检肿瘤标记物检测报告等，并加强相关专科随访。该变异遵循常染色体显性遗传，子代有50%的概率遗传到小孙的BRCA1变异，并有肿瘤高发的风险。

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