Pub Date : 2022-08-19DOI: 10.1186/s13053-022-00236-y
Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita, Jamal Fekkak
Background: While the role of BRCA1/2 genes in familial breast and ovarian cancer is well established, their implication in the sporadic form of both cancers is still controversial. With the development of poly (ADP-ribose) polymerase (PARP) inhibitors, the exact relationship between BRCA1/2 genes and sporadic triple negative breast cancer/high grade serous carcinoma (TNBC/HGSC) needs to be further investigated. Therefore, we conducted a study in which we analyze BRCA1/2 point mutations and copy number alterations in Moroccan patients suffering from TNBC/HGSC.
Methods: To achieve our goal, we analyzed BRCA1/2 genes in the FFPE tissue blocks and blood samples of 65 TNBC/HGSC selected patients, using next generation sequencing technology.
Results: From the 65 successfully sequenced patients in our cohort, we detected five-point variants in six different patients, four variants were classified as pathogenic and one of unknown significance. Regarding copy number alterations we detected one copy number loss in BRCA1 gene and one copy number gain in BRCA2 gene. The genetic screening of BRCA1/2 genes using these patients' genomic DNA indicated that five harbored a germline genetic alteration. While three harbored a somatic genetic alteration. To the best of our knowledge, three-point variants detected in our study have never been reported before.
Conclusion: According to the results found in the present study, in a population without a family history of cancer, the possibility of a BRCA1/2 somatic pathogenic variant in high grade serous carcinoma is 7%. While for Triple negative breast cancer somatic point variants and copy number alterations seems to be a very rare genetic event.
{"title":"BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.","authors":"Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita, Jamal Fekkak","doi":"10.1186/s13053-022-00236-y","DOIUrl":"https://doi.org/10.1186/s13053-022-00236-y","url":null,"abstract":"<p><strong>Background: </strong>While the role of BRCA1/2 genes in familial breast and ovarian cancer is well established, their implication in the sporadic form of both cancers is still controversial. With the development of poly (ADP-ribose) polymerase (PARP) inhibitors, the exact relationship between BRCA1/2 genes and sporadic triple negative breast cancer/high grade serous carcinoma (TNBC/HGSC) needs to be further investigated. Therefore, we conducted a study in which we analyze BRCA1/2 point mutations and copy number alterations in Moroccan patients suffering from TNBC/HGSC.</p><p><strong>Methods: </strong>To achieve our goal, we analyzed BRCA1/2 genes in the FFPE tissue blocks and blood samples of 65 TNBC/HGSC selected patients, using next generation sequencing technology.</p><p><strong>Results: </strong>From the 65 successfully sequenced patients in our cohort, we detected five-point variants in six different patients, four variants were classified as pathogenic and one of unknown significance. Regarding copy number alterations we detected one copy number loss in BRCA1 gene and one copy number gain in BRCA2 gene. The genetic screening of BRCA1/2 genes using these patients' genomic DNA indicated that five harbored a germline genetic alteration. While three harbored a somatic genetic alteration. To the best of our knowledge, three-point variants detected in our study have never been reported before.</p><p><strong>Conclusion: </strong>According to the results found in the present study, in a population without a family history of cancer, the possibility of a BRCA1/2 somatic pathogenic variant in high grade serous carcinoma is 7%. While for Triple negative breast cancer somatic point variants and copy number alterations seems to be a very rare genetic event.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"29"},"PeriodicalIF":1.7,"publicationDate":"2022-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9389734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40709704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-27DOI: 10.1186/s13053-022-00224-2
Marek Olakowski, Łukasz Bułdak
Background: It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g., BRCA1/2, CDKN2A). The second is considered as familial pancreatic cancer, which is associated with several genetic factors responsible for the more common development of pancreatic cancer in certain families, but the precise single gene mutation has not been found.
Aim: This review summarizes the current state of knowledge regarding the risk of pancreatic cancer development in hereditary pancreatic cancer and familial pancreatic cancer patients. Furthermore, it gathers the latest recommendations from the three major organizations dealing with the prevention of pancreatic cancer in high-risk groups and explores recent guidelines of scientific societies on screening for pancreatic cancers in individuals at risk for hereditary or familial pancreatic cancer.
Conclusions: In order to improve patients' outcomes, authors of current guidelines recommend early and intensive screening in patients with pancreatic cancer resulting from genetic background. The screening should be performed in excellence centers. The scope, extent and cost-effectiveness of such interventions requires further studies.
{"title":"Current status of inherited pancreatic cancer.","authors":"Marek Olakowski, Łukasz Bułdak","doi":"10.1186/s13053-022-00224-2","DOIUrl":"https://doi.org/10.1186/s13053-022-00224-2","url":null,"abstract":"<p><strong>Background: </strong>It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g., BRCA1/2, CDKN2A). The second is considered as familial pancreatic cancer, which is associated with several genetic factors responsible for the more common development of pancreatic cancer in certain families, but the precise single gene mutation has not been found.</p><p><strong>Aim: </strong>This review summarizes the current state of knowledge regarding the risk of pancreatic cancer development in hereditary pancreatic cancer and familial pancreatic cancer patients. Furthermore, it gathers the latest recommendations from the three major organizations dealing with the prevention of pancreatic cancer in high-risk groups and explores recent guidelines of scientific societies on screening for pancreatic cancers in individuals at risk for hereditary or familial pancreatic cancer.</p><p><strong>Conclusions: </strong>In order to improve patients' outcomes, authors of current guidelines recommend early and intensive screening in patients with pancreatic cancer resulting from genetic background. The screening should be performed in excellence centers. The scope, extent and cost-effectiveness of such interventions requires further studies.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"26"},"PeriodicalIF":1.7,"publicationDate":"2022-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40405258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-22DOI: 10.1186/s13053-022-00229-x
Lindsay Carlsson, Emily Thain, Brittany Gillies, Kelly Metcalfe
Introduction: Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2), as well as moderate- and low-penetrance genes. Certain moderate and low penetrance genes are associated with limited data to inform cancer risk estimates and clinical management recommendations, which create new sources of genetic and clinical uncertainty for patients.
Purpose: The aim of this review is to evaluate the psychological and health behaviour outcomes associated with multi-gene panel testing for HBOC risk. The search was developed in collaboration with an Information Specialist (Princess Margaret Cancer Centre) and conducted in the following databases: MEDLINE, EMBASE, EMCare, PsycINFO, Epub Ahead of Publication.
Results: Similar to the BRCA1/2 literature, individuals with a pathogenic variant (PV) reported higher levels of testing-related concerns and cancer-specific distress, as well as higher uptake of prophylactic surgery in both affected and unaffected individuals compared to those with variant of uncertain significance (VUS) or negative result. A single study demonstrated that individuals with a PV in a moderate penetrance gene reported higher rates of cancer worry, genetic testing concerns and cancer-related distress when compared to women with high penetrance PV. Analysis of cancer screening and prevention outcomes based upon gene penetrance were limited to two studies, with conflicting findings.
Conclusion: The findings in this review emphasize the need for studies examining psychological and health behavior outcomes associated with panel testing to include between group differences based upon both variant pathogenicity and gene penetrance. Future studies evaluating the impact of gene penetrance on patient-reported and clinical outcomes will require large samples to be powered for these analyses given that a limited number of tested individuals are found to have a PV.
{"title":"Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.","authors":"Lindsay Carlsson, Emily Thain, Brittany Gillies, Kelly Metcalfe","doi":"10.1186/s13053-022-00229-x","DOIUrl":"https://doi.org/10.1186/s13053-022-00229-x","url":null,"abstract":"<p><strong>Introduction: </strong>Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2), as well as moderate- and low-penetrance genes. Certain moderate and low penetrance genes are associated with limited data to inform cancer risk estimates and clinical management recommendations, which create new sources of genetic and clinical uncertainty for patients.</p><p><strong>Purpose: </strong>The aim of this review is to evaluate the psychological and health behaviour outcomes associated with multi-gene panel testing for HBOC risk. The search was developed in collaboration with an Information Specialist (Princess Margaret Cancer Centre) and conducted in the following databases: MEDLINE, EMBASE, EMCare, PsycINFO, Epub Ahead of Publication.</p><p><strong>Results: </strong>Similar to the BRCA1/2 literature, individuals with a pathogenic variant (PV) reported higher levels of testing-related concerns and cancer-specific distress, as well as higher uptake of prophylactic surgery in both affected and unaffected individuals compared to those with variant of uncertain significance (VUS) or negative result. A single study demonstrated that individuals with a PV in a moderate penetrance gene reported higher rates of cancer worry, genetic testing concerns and cancer-related distress when compared to women with high penetrance PV. Analysis of cancer screening and prevention outcomes based upon gene penetrance were limited to two studies, with conflicting findings.</p><p><strong>Conclusion: </strong>The findings in this review emphasize the need for studies examining psychological and health behavior outcomes associated with panel testing to include between group differences based upon both variant pathogenicity and gene penetrance. Future studies evaluating the impact of gene penetrance on patient-reported and clinical outcomes will require large samples to be powered for these analyses given that a limited number of tested individuals are found to have a PV.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"25"},"PeriodicalIF":1.7,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9215075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40210813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5–10% of total cases. However, in Low Middle-Income Countries (LMICs), the population-specific risk of HBC in different ethnicities and the correlation with certain clinical characteristics remain unexplored. Retrospective chart review of patients who visited the HBC clinic and proceeded with multi-gene panel testing from May 2017 to April 2020. Descriptive and inferential statistics were used to analyze clinical characteristics of patients. Fisher’s exact, Pearson’s chi-squared tests and Logistic regression analysis were used for categorical variables and Wilcoxon rank-sum test were used for quantitative variables. For comparison between two independent groups, Mann-Whitney test was performed. Results were considered significant at a p value of < 0.05. Out of 273 patients, 22% tested positive, 37% had a VUS and 41% had a negative genetic test result. Fifty-five percent of the positive patients had pathogenic variants in either BRCA1 or BRCA2, while the remaining positive results were attributed to other genes. Patients with a positive result had a younger age at diagnosis compared to those having a VUS and a negative result; median age 37.5 years, IQR (Interquartile range) (31.5–48). Additionally, patients with triple negative breast cancer (TNBC) were almost 3 times more likely to have a positive result (OR = 2.79, CI = 1.42–5.48 p = 0.003). Of all patients with positive results, 25% of patients had a negative family history of breast and/or related cancers. In our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations. The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other than BRCA1/2, and that our test positivity rate would have only been 12.8% if only BRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase.
乳腺癌是妇女中最常见的恶性肿瘤，每年影响150多万妇女，是全球妇女与癌症有关的死亡人数最多的。遗传性乳腺癌(HBC)是乳腺癌的一个重要亚型，占总病例的5-10%。然而，在中低收入国家(LMICs)，不同种族的人群特异性HBC风险及其与某些临床特征的相关性仍未得到研究。2017年5月至2020年4月到HBC诊所就诊并进行多基因面板检测的患者回顾性图表回顾。采用描述性统计和推断性统计分析患者的临床特征。分类变量采用Fisher精确检验、Pearson卡方检验和Logistic回归分析，定量变量采用Wilcoxon秩和检验。两独立组间比较采用Mann-Whitney检验。p值< 0.05时认为结果显著。在273名患者中，22%的检测结果呈阳性，37%的人患有VUS, 41%的人基因检测结果为阴性。55%的阳性患者有BRCA1或BRCA2的致病变异，而其余的阳性结果归因于其他基因。与VUS阳性结果的患者相比，VUS阳性结果的患者在诊断时年龄更小;中位年龄37.5岁，IQR(四分位数间距)(31.5-48)。此外，三阴性乳腺癌(TNBC)患者的阳性结果几乎是三倍(OR = 2.79, CI = 1.42-5.48 p = 0.003)。在所有阳性结果的患者中，25%的患者有乳腺癌和/或相关癌症的阴性家族史。在我们的HBC诊所中，我们观察到我们的阳性结果率是相当的，但在其他人群中报道的范围的高端。事实上，几乎一半的患者在BRCA1/2以外的基因中具有致病性或可能致病性变异，并且如果只进行BRCA1/2检测，我们的检测阳性率仅为12.8%，这突出了扩展的多基因面板检测的重要性。随着数据库的扩展和协议驱动的转诊在全国范围内进行，我们对人群中HBC遗传结构的了解将继续增加。
{"title":"Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan","authors":"Akbar, Fizza, Siddiqui, Zahraa, Waheed, Muhammad Talha, Ehsan, Lubaina, Ali, Syed Ibaad, Wiquar, Hajra, Valimohammed, Azmina Tajuddin, Khan, Shaista, Vohra, Lubna, Zeeshan, Sana, Rashid, Yasmin, Moosajee, Munira, Jabbar, Adnan Abdul, Zahir, Muhammad Nauman, Zahid, Naila, Soomro, Rufina, Ullah, Najeeb Niamat, Ahmad, Imran, Haider, Ghulam, Ansari, Uzair, Rizvi, Arjumand, Mehboobali, Arif, Sattar, Abida, Kirmani, Salman","doi":"10.1186/s13053-022-00232-2","DOIUrl":"https://doi.org/10.1186/s13053-022-00232-2","url":null,"abstract":"Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5–10% of total cases. However, in Low Middle-Income Countries (LMICs), the population-specific risk of HBC in different ethnicities and the correlation with certain clinical characteristics remain unexplored. Retrospective chart review of patients who visited the HBC clinic and proceeded with multi-gene panel testing from May 2017 to April 2020. Descriptive and inferential statistics were used to analyze clinical characteristics of patients. Fisher’s exact, Pearson’s chi-squared tests and Logistic regression analysis were used for categorical variables and Wilcoxon rank-sum test were used for quantitative variables. For comparison between two independent groups, Mann-Whitney test was performed. Results were considered significant at a p value of < 0.05. Out of 273 patients, 22% tested positive, 37% had a VUS and 41% had a negative genetic test result. Fifty-five percent of the positive patients had pathogenic variants in either BRCA1 or BRCA2, while the remaining positive results were attributed to other genes. Patients with a positive result had a younger age at diagnosis compared to those having a VUS and a negative result; median age 37.5 years, IQR (Interquartile range) (31.5–48). Additionally, patients with triple negative breast cancer (TNBC) were almost 3 times more likely to have a positive result (OR = 2.79, CI = 1.42–5.48 p = 0.003). Of all patients with positive results, 25% of patients had a negative family history of breast and/or related cancers. In our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations. The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other than BRCA1/2, and that our test positivity rate would have only been 12.8% if only BRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase.","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"243 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138529474","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}
Pub Date : 2022-06-13DOI: 10.1186/s13053-022-00230-4
J. Loh, P. Ong, D. Goh, M. Puhaindran, B. Vellayappan, S. Ow, Gloria Chan, Soo-Chin Lee
{"title":"Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore","authors":"J. Loh, P. Ong, D. Goh, M. Puhaindran, B. Vellayappan, S. Ow, Gloria Chan, Soo-Chin Lee","doi":"10.1186/s13053-022-00230-4","DOIUrl":"https://doi.org/10.1186/s13053-022-00230-4","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65767050","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}
Pub Date : 2022-06-10DOI: 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
{"title":"Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews","authors":"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.","doi":"10.1186/s13053-022-00231-3","DOIUrl":"https://doi.org/10.1186/s13053-022-00231-3","url":null,"abstract":"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.\u0000","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"243 1","pages":"22"},"PeriodicalIF":1.7,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138529471","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}
Pub Date : 2022-05-30DOI: 10.1186/s13053-022-00228-y
M. Wong-Brown, M. McPhillips, M. Gleeson, A. Spigelman, C. Meldrum, Susan Dooley, R. Scott
{"title":"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","authors":"M. Wong-Brown, M. McPhillips, M. Gleeson, A. Spigelman, C. Meldrum, Susan Dooley, R. Scott","doi":"10.1186/s13053-022-00228-y","DOIUrl":"https://doi.org/10.1186/s13053-022-00228-y","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47711112","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}
Pub Date : 2022-05-23DOI: 10.1186/s13053-022-00226-0
M. Acharya, K. Zorn, M. Simonson, M. Bimali, G. W. Moore, Cheng Peng, B. Martin
{"title":"Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018","authors":"M. Acharya, K. Zorn, M. Simonson, M. Bimali, G. W. Moore, Cheng Peng, B. Martin","doi":"10.1186/s13053-022-00226-0","DOIUrl":"https://doi.org/10.1186/s13053-022-00226-0","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65767023","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}
Pub Date : 2022-05-04DOI: 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
{"title":"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","authors":"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","doi":"10.1186/s13053-022-00225-1","DOIUrl":"https://doi.org/10.1186/s13053-022-00225-1","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65766784","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}
Pub Date : 2022-04-15DOI: 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.
{"title":"CMMRD caused by PMS1 mutation in a sudanese consanguineous family","authors":"Hamad, Reem S., Ibrahim, Muntaser E.","doi":"10.1186/s13053-022-00222-4","DOIUrl":"https://doi.org/10.1186/s13053-022-00222-4","url":null,"abstract":"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.","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"243 1","pages":"16"},"PeriodicalIF":1.7,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138529470","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}
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