PDF(Pubmed)
Abstract：
Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC (BRCA1, BRCA2, PALB2, CDH1, PTEN, STK11 and TP53), and moderate-risk genes, i.e., a two to four times higher risk of BC (BARD1, CHEK2, RAD51C, RAD51D and ATM). Pathogenic germline variants (PGVs) in HBOC genes confer an absolute risk of BC that changes according to the gene considered. We illustrate and compare different BC risk estimation models, also describing their limitations. These models allow us to identify women eligible for genetic testing and possibly to offer surgical strategies for primary prevention, i.e., risk-reducing mastectomies and salpingo-oophorectomies.
摘要：
遗传性乳腺癌和卵巢癌（HBOC）综合征约占乳腺癌（BC）的10％。HBOC基因组包括两个高风险基因，即，4倍高的BC风险（BRCA1，BRCA2，PALB2，CDH1，PTEN，STK11和TP53），和中等风险的基因，即，BC的风险高2-4倍（BARD1，CHEK2，RAD51C，RAD51D和ATM)。HBOC基因中的致病性种系变体（PGV）赋予BC的绝对风险，该风险根据所考虑的基因而变化。我们说明和比较了不同的BC风险估计模型，也描述了他们的局限性。这些模型使我们能够确定有资格进行基因检测的女性，并可能提供一级预防的手术策略，即，降低风险的乳腺切除术和输卵管卵巢切除术。
