大量乳腺癌发生在家族背景之中，有些是由已知遗传基因突变导致的，这些基因主要与DNA修复有关；有些是由具有乳腺和/或卵巢癌强烈家族史的人患上的，但其基因机制尚不清楚。这些癌症与散发病例不同，早发性更普遍，多灶性增多，并且与特定的乳腺癌组织学和表型亚型有关。此外，由于失去BRCA1，BRCA2，PALB2和CHEK2功能而显示同源重组缺陷的肿瘤已被证明对基于铂的化疗药物和PARP抑制剂具有特别敏感性。虽然关于风险分层和遗传易感性已经进行了大量研究和数据积累，但在这种乳腺癌亚组中，有关相关预后和预测生物标记物的数据较少。以下内容是关于男性和女性家族性乳腺癌中这些生物标志物的审查，然而前者的数据尤为稀缺。

Large numbers of breast cancers arise within a familial context, either with known inherited germline mutations largely within DNA repair genes, or with a strong family history of breast and/or ovarian cancer, with unknown genetic underlying mechanisms. These cancers appear to be different to sporadic cases, with earlier age of onset, increased multifocality and with association with specific breast cancer histological and phenotypic subtypes. Furthermore, tumours showing homologous recombination deficiency, due to loss of BRCA1, BRCA2, PALB2 and CHEK2 function, have been shown to be especially sensitive to platinum-based chemotherapeutics and PARP inhibition. While there is extensive research and data accrued on risk stratification and genetic predisposition, there are few data pertaining to relevant prognostic and predictive biomarkers within this breast cancer subgroup. The following is a review of such biomarkers in male and female familial breast cancer, although the data for the former are particularly sparse.