并非所有的乳腺癌都可遗传，体细胞基因突变引起的乳腺癌通常不遗传，生殖细胞基因突变引起的乳腺癌才有可能遗传，此类乳腺癌即遗传性乳腺癌，此类基因即乳腺癌易感基因。
4月3日，美国临床肿瘤学会《临床肿瘤学杂志》在线发表哈佛大学贝斯以色列和新英格兰女执事医疗中心、梅奥医学中心、密歇根大学、纽约纪念医院斯隆凯特林癌症中心、德克萨斯大学MD安德森癌症中心、凯斯西储大学、罗文大学库珀医学院MD安德森癌症中心、耶鲁大学、乔治城大学、德克萨斯大学圣安东尼奥健康科学中心、华盛顿大学、奥罗拉医疗集团、阿利根尼医疗集团、美国临床肿瘤学会、博蒙特医疗集团起草的美国临床肿瘤学会、美国放射肿瘤学会、美国外科肿瘤学会遗传性乳腺癌管理指南。
美国临床肿瘤学会、美国放射肿瘤学会、美国外科肿瘤学会首先召集专家小组，对9月26日发表的文献进行系统回顾。结果，58篇文献符合入选标准，为局部治疗推荐意见提供了证据基础；6项随机对照研究符合入选标准，为全身治疗推荐意见提供了证据基础。随后，专家小组通过正式共识表决流程，制定了遗传性乳腺癌管理指南，主要推荐意见如下：
新诊断乳腺癌且BRCA基因突变患者可以考虑保乳治疗，新发乳腺癌的局部控制与非携带者相似。
对侧乳腺癌风险较高（尤其对于年轻女性）以及新发同侧乳腺癌风险较高的患者，有必要考虑双侧乳房切除术。
中等风险基因突变患者应该进行保乳治疗。
对于有指征进行乳房切除术的BRCA或中度外显基因突变女性，保留乳头的乳房切除术是合理的方法。
无证据表明BRCA基因突变携带者的放疗可增加毒性反应或对侧乳腺癌事件。
对于ATM基因突变携带者不应放弃放疗。
对于生殖细胞TP53基因突变患者，建议进行乳房切除术；放疗无指征，除非对于局部区域复发风险明显患者。
铂类药物与紫杉类药物相比，更被推荐用于治疗晚期乳腺癌BRCA基因突变携带者。
对于术后辅助或术前新辅助治疗，数据不支持将铂类常规加入蒽环类和紫杉类化疗方案。
多腺苷二磷酸核糖聚合酶PARP抑制剂（奥拉帕利、他拉唑帕利）与非铂类单药化疗相比，更适合治疗晚期乳腺癌BRCA基因突变携带者。
现有数据不足以推荐PARP抑制剂用于早期或中度外显基因突变携带者。
对此，美国乳腺外科医师学会和美国肿瘤外科学会《肿瘤外科学报》在线发表弗吉尼亚联邦大学梅西癌症中心、佛罗里达大学医学院奥兰多癌症中心的述评：遗传性乳腺癌的管理。
J Clin Oncol. Apr 3. [Epub ahead of print]
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D.
Beth Israel Deaconess Medical Center, Boston, MA; Mayo Clinic, Rochester, MN; Rogel Cancer Center, University of Michigan, Ann Arbor, MI; Memorial Sloan Kettering Cancer Center, New York, NY; The University of Texas MD Anderson Cancer Center, Houston, TX; Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH; MD Anderson-Cooper University Hospital, Camden, NJ; Vall d'Hebron University Hospital, Barcelona, Spain; Yale Cancer Center, New Haven, CT; Georgetown University, Washington, DC; University of Texas Health Science Center at San Antonio, San Antonio, TX; FORCE, Washington, DC; University of Washington, Seattle, WA; Advocate Aurora Health, Milwaukee, WI; Allegheny Health Network, Pittsburgh, PA; American Society of Clinical Oncology, Alexandria, VA; Beaumont Health, Royal Oak, MI.
PURPOSE: To develop recommendations for management of patients with breast cancer (BC) with germline mutations in BC susceptibility genes.
METHODS: The American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology convened an Expert Panel to develop recommendations based on a systematic review of the literature and a formal consensus process.
RESULTS: Fifty-eight articles met eligibility criteria and formed the evidentiary basis for the local therapy recommendations; six randomized controlled trials of systemic therapy met eligibility criteria.
RECOMMENDATIONS: Patients with newly diagnosed BC and BRCA1/2 mutations may be considered for breast-conserving therapy (BCT), with local control of the index cancer similar to that of noncarriers. The significant risk of a contralateral BC (CBC), especially in young women, and the higher risk of new cancers in the ipsilateral breast warrant discussion of bilateral mastectomy. Patients with mutations in moderate-risk genes should be offered BCT. For women with mutations in BRCA1/2 or moderate-penetrance genes who are eligible for mastectomy, nipple-sparing mastectomy is a reasonable approach. There is no evidence of increased toxicity or CBC events from radiation exposure in BRCA1/2 carriers. Radiation therapy should not be withheld in ATM carriers. For patients with germline TP53 mutations, mastectomy is advised; radiation therapy is contraindicated except in those with significant risk of locoregional recurrence. Platinum agents are recommended versus taxanes to treat advanced BC in BRCA carriers. In the adjuvant/neoadjuvant setting, data do not support the routine addition of platinum to anthracycline- and taxane-based chemotherapy. Poly (ADP-ribose) polymerase (PARP) inhibitors (olaparib and talazoparib) are preferable to nonplatinum single-agent chemotherapy for treatment of advanced BC in BRCA1/2 carriers. Data are insufficient to recommend PARP inhibitor use in the early setting or in moderate-penetrance carriers.
PMID: 32243226
DOI: 10.1200/JCO.20.00299
Ann Surg Oncol. Apr 3. [Epub ahead of print]
Management of Hereditary Breast Cancer: ASCO, ASTRO, and SSO Guideline.
Kandace P. McGuire, Eleftherios P. Mamounas.
VCU Massey Cancer Center, Richmond, VA, USA; Orlando Health UF Health Cancer Center, Orlando, FL, USA.
DOI: 10.1245/s10434-020-08396-8
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