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。     

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。     

手术治疗单一局部复发或远处转移病灶乳腺癌的临床观察

探索手术治疗单一局部复发或唯一远处转移病灶乳腺癌的临床价值。收集2006年6月至2013年6月湖南省人民医院乳甲外科收治的64例局部复发或术后远处转移乳腺癌患者,其中28例为单发病灶病例。根据是否采取了包含手术的综合治疗,将其分为手术组与非手术组。回顾性分析两组的临床资料和随访数据,分析手术治疗局部复发或远处转移乳腺癌有无临床意义。结果28例都采取了含化疗的综合治疗,8例局部单发病灶与9例远处单一脏器转移病例进行了手术治疗。手术组的局部缓解率与控制率明显优于非手术组,均为100％。两组无进展生存时间（PFS）和总生存时间（（）S）比较,手术组明显长于非手术组;但在单一远处脏器转移手术组中0S没有优势。2年生存率方面手术组与非手术组比较有统计学意义。对于术后单一局部复发病灶或唯一远处脏器转移的乳腺癌患者,采取含手术的综合治疗方案能带来明显的PFS优势,若有手术机会和条件成熟,手术仍是不应放弃的有效治疗方法。     

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。     

Mental health consequences of weight cycling in the first-year post-treatment for breast cancer

Objectives: Weight cycling is linked with advanced breast cancer diagnosis, increased risk of cancer reoccurrence and cancer-related mortality. While women treated for breast cancer report challenges with navigating their post-treatment body shape and weight, the effects of weight cycling on body image and mental health have not been elucidated. This study examined associations between weight changes and weight cycling on psychological health (i.e. weight-related guilt, shame and depressive symptoms) among women in the first-year post-treatment.

Design and Outcome Measures: Self-reported assessments of pre-cancer weight cycling, post-treatment weight-related guilt, shame and depressive symptoms, and objective assessments of weight were assessed in a longitudinal sample of 173 women treated for breast cancer (M_age = 55.01 ± 10.96 years).

Results: Based on findings from multilevel models, women experienced the most weight-related shame when their weight was heavier than their personal average. Additionally, heavier weight was associated with worse psychological health, particularly for women with a history of stable (vs. cycling) weight pre-cancer.

Conclusions: Weight cycling pre-cancer and post-treatment weight change have important implications for psychological well-being. Due to the potential psychological consequences associated with a history of weight cycling, targeted strategies are needed to improve overall health outcomes for women’s survivorship after breast cancer.