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Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews 识字适应,电子家族史评估遗传转诊在初级保健:从定性访谈患者用户的见解
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-06-10 DOI: 10.1186/s13053-022-00231-3
Mittendorf, Kathleen F., Lewis, Hannah S., Duenas, Devan M., Eubanks, Donna J., Gilmore, Marian J., Goddard, Katrina A. B., Joseph, Galen, Kauffman, Tia L., Kraft, Stephanie A., Lindberg, Nangel M., Reyes, Ana A., Shuster, Elizabeth, Syngal, Sapna, Ukaegbu, Chinedu, Zepp, Jamilyn M., Wilfond, Benjamin S., Porter, Kathryn M.
Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral – a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved patient populations recruited in the Cancer Health Assessments Reaching Many (CHARM) Study. Interview participants were recruited from a subpopulation of CHARM participants who experienced barriers to tool use in terms of spending a longer time to complete the tool, having incomplete attempts, and/or providing inaccurate family history in comparison to a genetic counselor-collected standard. We conducted semi-structured interviews with participants about barriers and facilitators to tool use and overall tool acceptability; interviews were recorded and professionally transcribed. Transcripts were coded based on a codebook developed using inductive techniques, and coded excerpts were reviewed to identify overarching themes related to barriers and facilitators to family history self-assessment and acceptability of the study tool. Interviewees endorsed the tool as easy to navigate and understand. However, they described barriers related to family history information, literacy and language, and certain tool functions. Participants offered concrete, easy-to-implement solutions to each barrier. Despite experience barriers to use of the tool, most participants indicated that electronic family history self-assessment was acceptable or preferable in comparison to clinician-collected family history. Even for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool. This study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018.
在初级保健中建议对遗传性癌症综合征进行风险评估,但很少收集足够详细的家族史来促进风险评估和转诊——这是一个障碍,对有医疗保健获取障碍的个人产生不成比例的影响。我们试图对一种适合读写能力的、面向患者的电子家族史工具进行定性评估,该工具开发用于癌症健康评估(CHARM)研究中招募的不同、服务不足的患者群体。访谈参与者是从CHARM参与者的亚群中招募的,这些参与者在工具使用方面经历了障碍,如花费更长的时间来完成工具,有不完整的尝试,和/或与遗传咨询师收集的标准相比,提供不准确的家族史。我们对参与者进行了半结构化访谈,了解工具使用的障碍和促进因素以及整体工具可接受性;采访被记录下来,并由专业人员转录。基于使用归纳技术开发的代码本对转录本进行编码,并对编码摘录进行审查,以确定与家族史自我评估和研究工具的可接受性相关的障碍和促进因素相关的总体主题。受访者认为该工具易于操作和理解。然而,他们描述了与家族史信息、识字和语言以及某些工具功能有关的障碍。与会者对每个障碍都提出了具体的、易于实施的解决方案。尽管使用该工具存在经验障碍,但大多数参与者表示,与临床收集的家族史相比,电子家族史自我评估是可接受的或更可取的。即使对于那些在工具使用方面有障碍的参与者,家族史自我评估也被认为是一种可接受的替代方法,而不是临床医生收集的家族史。所经历的障碍可以通过对目前的家族史工具进行微小的调整来克服。本研究是Cancer Health Assessments reach Many (CHARM)试验的一个子研究,ClinicalTrials.gov, NCT03426878。2018年2月8日注册
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引用次数: 1
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans 更正:什么时候突变不是突变:C .594- 2a >C剪接变体在一名携带另一个BRCA1反式突变的女性中的情况
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-05-30 DOI: 10.1186/s13053-022-00228-y
M. Wong-Brown, M. McPhillips, M. Gleeson, A. Spigelman, C. Meldrum, Susan Dooley, R. Scott
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引用次数: 0
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018 2013-2018年阿肯色州遗传性癌症风险基因检测的全州趋势和相关因素
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-05-23 DOI: 10.1186/s13053-022-00226-0
M. Acharya, K. Zorn, M. Simonson, M. Bimali, G. W. Moore, Cheng Peng, B. Martin
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引用次数: 0
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals 高收入国家普遍医疗保健的结直肠癌患者Lynch综合征检测:对澳大利亚七家医院当前实践和差距的回顾性研究
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-05-04 DOI: 10.1186/s13053-022-00225-1
J. Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, A. Morrow, Yoon-Jung Kang, E. He, Rebecca L. Venchiarutti, Leanna Titterton, Lucien Sankey, A. Pearn, C. Nichols, S. McKay, A. Hayward, N. Egoroff, A. Engel, P. Gibbs, A. Goodwin, M. Harris, J. Kench, N. Pachter, B. Parkinson, P. Pockney, A. Ragunathan, C. Smyth, M. Solomon, D. Steffens, J. Toh, Marina Wallace, K. Canfell, Anthony G. Gill, F. Macrae, Kathy Tucker, N. Taylor
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引用次数: 3
CMMRD caused by PMS1 mutation in a sudanese consanguineous family 苏丹近亲家族PMS1突变致CMMRD
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-04-15 DOI: 10.1186/s13053-022-00222-4
Hamad, Reem S., Ibrahim, Muntaser E.
A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
一个有三个兄弟姐妹的近亲家庭表现出不同的早期儿童癌症。父母DNA的全外显子组测序显示,hPMS1中存在有害的移码突变,这是首次报道的与CMMRD表型相关的突变。
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引用次数: 0
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think? 高级别浆液性卵巢癌的反射性BRCA1和BRCA2肿瘤基因检测:临床医生简化,但患者怎么想?
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-04-13 DOI: 10.1186/s13053-022-00221-5
McCuaig, Jeanna M., Ferguson, Sarah E., Vicus, Danielle, Ott, Karen, Stockley, Tracy L., Kim, Raymond H., Metcalfe, Kelly A.
Reflex (automatic) BRCA1 and BRCA2 (BRCA1/2) genetic testing of tumour tissue is being completed for all newly diagnosed high-grade serous ovarian cancer (HGSOC) in the province of Ontario, Canada. The objective of this study was to measure the psychological impact of tumour genetic testing among individuals with a new diagnosis of HGSOC. Participants had a new diagnosis of HGSOC and received reflex BRCA1/2 tumour genetic testing as a component of their care. Eligible individuals were recruited from two oncology centres in Toronto, Canada. One week after disclosure of tumour genetic test results, consenting participants were asked to complete a questionnaire that measured cancer-related distress, dispositional optimism, knowledge of hereditary breast/ovarian cancer, recall of tumour genetic test results, satisfaction, and the psychological impact of receiving tumour genetic test results. The Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire was used to measure the psychological impact of tumour genetic testing. 76 individuals completed the study survey; 13 said they did not receive their tumour test results. Of the remaining 63 participants, the average MICRA score was 26.8 (SD = 16.3). Higher total MICRA scores were seen among those with children (p = 0.02), who received treatment with primary surgery (p = 0.02), and had higher reported cancer-related distress (p < 0.001). Higher dispositional optimism (p < 0.001) and increasing age (p = 0.03) were associated with lower total MICRA scores. Most (83.5%) participants reported being satisfied/highly satisfied with having tumour testing completed; however, 40.8% could not accurately recall their tumor test results. This study is the first to assess psychological outcomes following reflex BRCA1/2 tumour genetic testing in women newly diagnosed with HGSOC. Increased dispositional optimism provided a protective effect, while increased cancer-related distress increased the psychological impact of tumour genetic testing. Educational resources are needed to help increase patient understanding and recall of tumour results, particularly when tumour genetic testing includes analysis of genes that may have implications for hereditary cancer risk. Additional research is required to better understand the patient experience of reflex tumour genetic testing.
在加拿大安大略省,所有新诊断的高级别浆液性卵巢癌(HGSOC)正在完成肿瘤组织反射(自动)BRCA1和BRCA2 (BRCA1/2)基因检测。本研究的目的是测量肿瘤基因检测对新诊断为HGSOC的个体的心理影响。参与者有新的HGSOC诊断,并接受反射BRCA1/2肿瘤基因检测作为其护理的一部分。从加拿大多伦多的两个肿瘤中心招募符合条件的个体。在肿瘤基因检测结果公布一周后,同意的参与者被要求完成一份调查问卷,包括癌症相关的痛苦、性格乐观、遗传性乳腺癌/卵巢癌的知识、肿瘤基因检测结果的回忆、满意度和接受肿瘤基因检测结果的心理影响。癌症风险评估的多维影响(MICRA)问卷用于测量肿瘤基因检测的心理影响。76人完成了研究调查;13人说他们没有收到肿瘤检查结果。在其余63名参与者中,平均MICRA得分为26.8 (SD = 16.3)。有孩子的患者(p = 0.02)、接受初级手术治疗的患者(p = 0.02)和报告的癌症相关痛苦较高的患者(p < 0.001)的总MICRA评分较高。较高的性格乐观(p < 0.001)和年龄的增加(p = 0.03)与较低的总MICRA得分相关。大多数(83.5%)参与者报告对完成肿瘤检测感到满意/非常满意;然而,40.8%的人不能准确地回忆起他们的肿瘤检查结果。这项研究首次评估了新诊断为HGSOC的女性进行反射性BRCA1/2肿瘤基因检测后的心理结果。增加的性格乐观提供了保护作用,而增加的癌症相关的痛苦增加了肿瘤基因检测的心理影响。需要教育资源来帮助提高患者对肿瘤结果的理解和回忆,特别是当肿瘤基因检测包括可能与遗传性癌症风险相关的基因分析时。需要进一步的研究来更好地了解反射性肿瘤基因检测的患者体验。
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引用次数: 3
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation 描述骨保护素作为BRCA1突变女性乳腺癌风险标记物的作用
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-04-13 DOI: 10.1186/s13053-022-00223-3
Park, Sarah Sohyun, Uzelac, Aleksandra, Kotsopoulos, Joanne
Women with a pathogenic germline mutation in the BRCA1 gene face a very high lifetime risk of developing breast cancer, estimated at 72% by age 80. Prophylactic bilateral mastectomy is the only effective way to lower their risk; however, most women with a mutation opt for intensive screening with annual MRI and mammography. Given that the BRCA1 gene was identified over 20 years ago, there is a need to identify a novel non-surgical approach to hereditary breast cancer prevention. Here, we provide a review of the emerging preclinical and epidemiologic evidence implicating the dysregulation of progesterone-mediated receptor activator of nuclear factor κB (RANK) signaling in the pathogenesis of BRCA1-associated breast cancer. Experimental studies have demonstrated that RANK inhibition suppresses Brca1-mammary tumorigenesis, suggesting a potential target for prevention. Data from studies conducted among women with a BRCA1 mutation further support this pathway in BRCA1-associated breast cancer development. Progesterone-containing (but not estrogen-alone) hormone replacement therapy is associated with an increased risk of breast cancer in women with a BRCA1 mutation. Furthermore, BRCA1 mutation carriers have significantly lower levels of circulating osteoprotegerin (OPG), the decoy receptor for RANK-ligand (RANKL) and thus endogenous inhibitor of RANK signaling. OPG levels may be associated with the risk of disease, suggesting a role of this protein as a potential biomarker of breast cancer risk. This may improve upon current risk prediction models, stratifying women at the highest risk of developing the disease, and further identify those who may be targets for anti-RANKL chemoprevention. Collectively, the evidence supports therapeutic inhibition of the RANK pathway for the primary prevention of BRCA1-associated breast cancer, which may generate unique prevention strategies (without prophylactic surgery) and enhance quality of life.
携带BRCA1基因致病种系突变的女性一生中患乳腺癌的风险非常高,到80岁时患乳腺癌的风险估计为72%。预防性双侧乳房切除术是降低风险的唯一有效途径;然而,大多数携带突变基因的女性选择每年进行核磁共振成像和乳房x光检查。鉴于BRCA1基因早在20多年前就被发现,有必要确定一种新的非手术方法来预防遗传性乳腺癌。在这里,我们提供了新的临床前和流行病学证据,提示孕激素介导的核因子κB受体激活因子(RANK)信号通路失调在brca1相关乳腺癌的发病机制中。实验研究表明,RANK抑制可以抑制brca1 -乳腺肿瘤的发生,这提示了预防brca1的潜在靶点。在携带BRCA1突变的女性中进行的研究数据进一步支持了这一途径在BRCA1相关乳腺癌发展中的作用。含有黄体酮(但不单独含有雌激素)的激素替代疗法与BRCA1突变女性患乳腺癌的风险增加有关。此外,BRCA1突变携带者的循环骨保护素(OPG)水平显著降低,OPG是RANK配体的诱饵受体(RANKL),因此是RANK信号的内源性抑制剂。OPG水平可能与疾病风险相关,表明该蛋白作为乳腺癌风险的潜在生物标志物的作用。这可能会改进目前的风险预测模型,对患病风险最高的妇女进行分层,并进一步确定那些可能成为抗rankl化学预防目标的妇女。总的来说,这些证据支持通过抑制RANK通路对brca1相关乳腺癌进行一级预防,这可能产生独特的预防策略(无需预防性手术)并提高生活质量。
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引用次数: 3
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland 波兰生殖系BRCA1和BRCA2突变与膀胱癌或肾癌的风险
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-04-08 DOI: 10.1186/s13053-022-00220-6
Złowocka-Perłowska, Elżbieta, Tołoczko-Grabarek, Aleksandra, Narod, Steven A., Lubiński, Jan
The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C5972T) mutations in bladder and kidney cancer patients from Poland. We genotyped 1028 patients with bladder cancer and 688 cases with kidney cancer and two control groups. A BRCA1 mutation (all variants combined) was detected in peripheral blood leukocytes in 5 out of 1028 (0.5%) bladder cases and in 17 of 4000 controls (0.4%) (odds ratio [OR], (OR = 1.1; 95% CI 0.42–3.11; p = 1.0). Among 688 unselected kidney cancer cases a BRCA1 mutations was reported in three patients (0.4%) (OR = 1.0; 95% CI 0.29–3.51; p = 1.0). The mutation C5972T in BRCA2 was observed in 54 bladder cancer patients (5.2%) and in 159 of 2791 healthy controls (5.7%) (OR = 0.9; 95% CI 0.66–1.26; p = 0.6). Fifty kidney cancer cases carried a BRCA2 mutation (7.3%) (OR = 1.3; 95% CI 0.93–1.80; p = 0.1). In conclusion, we found no difference in the prevalence of BRCA1 and BRCA2 founder mutations between cases and healthy controls. The mutations BRCA1 and BRCA2 seem not to play a role in bladder and kidney cancer development in Polish patients.
BRCA1和BRCA2基因在膀胱和肾脏肿瘤发生中的作用尚不清楚。我们的目标是确定波兰膀胱癌和肾癌患者中特定始创突变基因BRCA1 (5328 insC, C61G和4153 delA)和BRCA2 (C5972T)突变的患病率。我们对1028例膀胱癌患者和688例肾癌患者以及两个对照组进行了基因分型。1028例膀胱患者中有5例(0.5%)外周血白细胞检测到BRCA1突变(所有变异组合),4000例对照中有17例(0.4%)(优势比[OR], (OR = 1.1;95% ci 0.42-3.11;p = 1.0)。在688例未选择的肾癌病例中,有3例(0.4%)报告了BRCA1突变(OR = 1.0;95% ci 0.29-3.51;p = 1.0)。在54例膀胱癌患者(5.2%)和2791名健康对照者(5.7%)中观察到BRCA2突变C5972T (OR = 0.9;95% ci 0.66-1.26;p = 0.6)。50例肾癌患者携带BRCA2突变(7.3%)(OR = 1.3;95% ci 0.93-1.80;p = 0.1)。总之,我们发现病例和健康对照之间BRCA1和BRCA2创始人突变的患病率没有差异。突变BRCA1和BRCA2似乎在波兰患者的膀胱癌和肾癌发展中不起作用。
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引用次数: 2
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland 波兰东南部卵巢癌症患者BRCA1和BRCA2突变频率
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-04-05 DOI: 10.1186/s13053-022-00219-z
A. Jasiewicz, H. Rudnicka, W. Kluźniak, Wojciech Gronwald, T. Kluz, C. Cybulski, A. Jakubowska, J. Lubiński, J. Gronwald
{"title":"Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland","authors":"A. Jasiewicz, H. Rudnicka, W. Kluźniak, Wojciech Gronwald, T. Kluz, C. Cybulski, A. Jakubowska, J. Lubiński, J. Gronwald","doi":"10.1186/s13053-022-00219-z","DOIUrl":"https://doi.org/10.1186/s13053-022-00219-z","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44866374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic susceptibility to hereditary non-medullary thyroid cancer 遗传性非髓样甲状腺癌的遗传易感性
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2022-03-07 DOI: 10.1186/s13053-022-00215-3
Tina Kamani, Parsa Charkhchi, A. Zahedi, M. Akbari
{"title":"Genetic susceptibility to hereditary non-medullary thyroid cancer","authors":"Tina Kamani, Parsa Charkhchi, A. Zahedi, M. Akbari","doi":"10.1186/s13053-022-00215-3","DOIUrl":"https://doi.org/10.1186/s13053-022-00215-3","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65766707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
期刊
Hereditary Cancer in Clinical Practice
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