PDF(Pubmed)
Abstract：
Breast cancer continues to be the most common cancer diagnosed among women worldwide. Family history of breast cancer is frequently encountered, and 5-15% of patients may carry inherited pathogenic germline variants, identification of which can be helpful for both; patients themselves and their unaffected close relatives. The availability and affordability of molecular diagnostics, like next generation sequencing (NGS), had resulted in wider adoption of such technologies to detect pathogenic variants of cancer-predisposing genes. International guidelines had recently broadened the indications for germline genetic testing to include much more patients, and also expanded the testing to include multi-gene panels, while some professional societies are calling for universal testing of all newly diagnosed patients with breast cancer, regardless of their age, personal or family history. The risk of experiencing a contralateral breast cancer (CBC) or ipsilateral recurrence, is well known. Such risk is highest with variants like BRCA1 and BRCA2, but less well-studied with other less common variants. The optimal local therapy for women with BRCA-associated breast cancer remains controversial, but tends to be aggressive and may involve bilateral mastectomies, which may not have any survival advantage. Additionally, surgical management of unaffected women, known to carry a pathogenic cancer-predisposing gene, may vary from surveillance to bilateral mastectomies, too. The oncological safety, and the higher satisfaction of unaffected women and patients with new surgical techniques, like the skin-sparing (SSM) and nipple-sparing (NSM) mastectomies, eased up the process of counselling. In this review, we address the oncological safety of less aggressive surgical options for both; patients and unaffected carriers.
摘要：
乳腺癌仍然是全世界女性中最常见的癌症。经常遇到乳腺癌家族史，5-15%的患者可能携带遗传性致病性种系变异，对两者都有帮助；患者自己和他们未受影响的近亲。分子诊断的可用性和可负担性，像下一代测序（NGS），导致更广泛地采用这种技术来检测癌症易感基因的致病变异。国际指南最近扩大了种系基因检测的适应症，包括更多的患者，并扩大了测试范围，包括多基因小组，虽然一些专业协会呼吁对所有新诊断的乳腺癌患者进行普遍检测，不管他们的年龄,个人或家族史。经历对侧乳腺癌（CBC）或同侧复发的风险，是众所周知的。这种风险在BRCA1和BRCA2等变体中最高，但在其他不太常见的变体中研究较少。BRCA相关乳腺癌女性的最佳局部治疗仍存在争议，但往往是侵略性的，可能涉及双侧乳房切除术，这可能没有任何生存优势。此外,未受影响的妇女的手术管理，已知携带致病性癌症易感基因，从监视到双侧乳房切除术可能有所不同，也是。肿瘤的安全性，未受影响的妇女和患者对新手术技术的满意度更高，比如保留皮肤(SSM)和保留乳头(NSM)乳房切除术，放松了咨询的过程。在这次审查中,我们讨论了对于患者和未受影响的携带者,较不积极的手术选择的肿瘤安全性.
