乳腺癌倾向性遗传变体与多焦点,多中心乳腺癌之间的关联
Mahtab Vasigh1, Ahmed Mohamed1, Lisa Jacobs1
1Department of Surgical Oncology, Johns Hopkins Medical Institute, Baltimore, MD, USA.
Annals of surgical oncology
|September 27, 2024
概括
乳腺癌基因的遗传变异不会增加多焦点或多中心 (MFMC) 疾病的可能性. 这一发现挑战了之前的假设,并可能影响早期乳腺癌患者的治疗决策,这些患者具有遗传倾向.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 癌症研究 癌症研究
背景情况:
- 在BRCA基因携带者中,由于对多焦点或多中心 (MFMC) 疾病的担忧,经常会避免进行乳腺保护性手术.
- 易患乳腺癌的遗传变异可能会影响瘤特征.
研究的目的:
- 为了比较乳腺癌患者中MFMC疾病的发病率,有和没有致病性遗传变异.
- 确定基因变异是否是早期乳腺癌中MFMC疾病的预测因素.
主要方法:
- 对282名新诊断乳腺癌患者进行遗传检测的回顾性研究 (2010-2021年).
- 患者被分为基因变异阳性或阴性组,不包括那些接受新辅助化疗或第四阶段癌症的患者.
- 病理特征,包括MFMC疾病 (定义为>1个恶性焦点>5毫米间隔),在各组之间进行了比较.
主要成果:
- 24%的患者检测出乳腺癌相关的遗传变异呈阳性.
- 变种携带者更年轻,更有可能患有侵入性导管癌,乳腺切除术和3级癌症.
- 在变种携带者 (28%) 和非携带者 (22%) 之间没有观察到MFMC疾病发病率的显著差异.
结论:
- 在遗传变异载体中,乳腺癌的多焦点或多中心性 (MFMC) 不比偶发性癌症更有可能.
- 积极的遗传变异状态不是这个队列中MFMC疾病的预测因素.
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