Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

Differences in Individual Approaches: Communication in the Familial Breast Cancer Consultation and the Effect on Patient Outcomes

This multicenter study aimed to assess (i) whether individual clinical geneticists and genetic counselors vary in their communication skills and (ii) whether this variation in communication impacts on patient outcomes, such as anxiety, depression, genetics knowledge, and satisfaction. One hundred and fifty women from high-risk breast cancer families attending their first genetic counseling consultation completed pre and post-consultation self-report questionnaires. The consultations were audiotaped and transcribed verbatim. Univariate analyses showed highly significant differences between individual clinical geneticists and genetic counselors in: facilitating understanding (p 0.001); facilitating active involvement (p 0.001); facilitating partnership building (p = 0.003); addressing emotional concerns (p 0.001); and discussing prophylactic mastectomy (p = 0.017). Multivariate linear regressions showed that this variation in communication resulted in a greater change in patients depression 4 weeks after the counseling session (p = 0.017). These findings suggest clinical geneticists and genetic counselors have achieved some standardization in communicating information, but showed diversity in their facilitation skills. Communication skills may be a useful area to explore further in this field.     

应用分子靶向治疗的时机选择

分子靶向药物的出现显示出肿瘤治疗传统模式的重要进展。与传统放疗、化疗相比,分子靶向治疗因其特异性高、不良反应轻微,在恶性肿瘤个体化治疗中扮演重要角色。十五年来,分子靶向药物的出现,给肿瘤的治疗模式带来重大改变,也给临床医生带来新的挑战。准确把握分子靶向药物应用时机,获得最大临床效果,已成为肿瘤治疗领域关注热点。本文就非小细胞肺癌、消化系统肿瘤、乳腺癌、肾癌治疗中分子靶向药物如何选择应用时机进行阐述。     

微流控分析芯片在循环肿瘤细胞检测中的运用

随着人们对于肿瘤性疾病的发生、发展、转移机制的进一步探索,循环肿瘤细胞（CTCs）逐渐进入人们视野,其应用价值日益体现,可用于肿瘤性疾病的早期诊断及治疗效果的监测,尤其是对于早期肿瘤的诊断具有独特优势。其富集技术及检测方法也在发生着日新月异的变化。近年来,微流控分析芯片技术运用于 CTCs 的富集及检测,具有高丰度、高富集度、高活性及不需要对样本进行预处理等优点使得人们聚焦于此技术,本文对微流控分析芯片在 CTCs 检测中的运用做简要综述。     

晚期乳腺癌原发灶局部处理的若干问题

乳腺癌仍然是严重威胁女性健康的重大疾病。每年新发乳腺癌患者中约有6％为Ⅳ期乳腺癌,而这类患者5年生存率小于20％,局部处理（外科、放疗）可以根除局部病灶及微小转移灶,以延缓或者缓解症状,但是否可以带来生存获益尚无定论。本文对Ⅳ期乳腺癌原发灶的局部处理等方面的若干问题作一综述。     

原发灶切除在转移性乳腺癌治疗中的地位

无论是国内还是世界其他国家,乳腺癌近年来已成为女性常患恶性肿瘤之首。早期乳腺癌通过手术、化疗、放疗及内分泌治疗等综合治疗后可以达到长期生存。然而对于晚期乳腺癌,特别是伴有远处转移的乳腺癌,疗效却不尽如人意。对于转移性乳腺癌,目前治疗优先选择毒性尽可能小的全身系统性治疗方案;而对于需要缓解症状或避免即将发生并发症（如皮肤溃疡、出血、真菌感染以及疼痛等）的情况可于全身治疗后行相应手术。然而对于转移性乳腺癌是否手术切除原发灶以及是否可从手术中获益,仍然充满争议。     

三阴性乳腺癌两个新辅助化疗疗效比较

分析多西他赛联合卡铂方案在三阴性乳腺癌新辅助化疗中的疗效及不良反应。分析2010年03月～2013年09月我院收治的84例TNBC患者临床资料,分析对比多西他赛联合卡铂（TP）方案与吡柔比星、氟尿嘧啶、环磷酰胺（CAF）方案新辅助化疗疗效及不良反应。TP组患者的有效率（RR）优于CAF组,P＜0．05。两组患者的药物不良反应无明显差异,P＞0．05。多西他赛联合卡铂方案用于三阴性乳腺癌新辅助化疗,疗效确切,耐受性良好。     

乳腺癌患者“创伤后成长”的研究进展

近年来,乳腺癌的发病率不断上升,乳腺癌已逐渐成为危害女性健康的首位恶性肿瘤。手术给患者的身心带来很大伤害,但研究者发现,在与乳腺癌这一疾病做斗争的过程中患者会产生一种正向的心理变化,这就是积极心理学领域研究的创伤后成长。本文从创伤后成长内涵、国内外研究现状、测量工具、影响因素、干预方法等几方面对乳腺癌创伤后成长研究现状进行文献综述,为乳腺癌患者心理护理提供依据。     

应当重视肿瘤微环境中外因的研究

长期以来,肿瘤学的几乎所有研究一直在关注肿瘤细胞本身,从哲学角度看这无疑是正确的。肿瘤细胞是肿瘤事件发生发展的内因。近年研究表明,肿瘤的外因,即肿瘤微环境中的非肿瘤细胞及其产物,对肿瘤的发生发展起着十分重要的作用。肿瘤微环境的外因,通过作用于内因选择了更具抵抗性的肿瘤细胞,促进了肿瘤的进展与转移。因此,重视肿瘤微环境的外因研究,对肿瘤治疗学将会开辟以外因为靶点干预的新思路。