Hereditary Cancer in Clinical Practice最新文献

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The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code. 前瞻性Lynch综合征数据库:背景、设计、主要结果和完整的MySQL代码。
IF 1.7 4区 医学
Hereditary Cancer in Clinical Practice Pub Date : 2022-11-21 DOI: 10.1186/s13053-022-00243-z
Pål Møller
{"title":"The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code.","authors":"Pål Møller","doi":"10.1186/s13053-022-00243-z","DOIUrl":"https://doi.org/10.1186/s13053-022-00243-z","url":null,"abstract":"<p><p>A brief description of why and for which purposes the Prospective Lynch Syndrome Database was established, the principles and design, and the main classes of results are given. Data input is assumption-free input enabling validation of paradigms used to explain the results. The design is considering cancer/age as discrete events to occur or not in a time dimension in a closed room compliant with population genetic paradigms and last centuries developing paradigms of interpreting discrete events reflecting conditional and/or co-occurring stochastic probabilities. Which may be in contrast to the paradigm that any observed event has a cause. The results may indicate that some current paradigms on carcinogenesis should be reconsidered. The complete analytic code in MySQL© syntax together with a flowchart illustrating how the different pieces of codes interrelate are included as supplementary files, enabling third parties to use or modify the code to examine prospectively observed events in their own activities when referring to this report as the source.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":"37"},"PeriodicalIF":1.7,"publicationDate":"2022-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10327892","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}
引用次数: 3
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. 林奇综合征的结直肠癌发病率:前瞻性林奇综合征数据库与国际错配修复联盟的结果比较。
IF 2 4区 医学
Hereditary Cancer in Clinical Practice Pub Date : 2022-10-01 DOI: 10.1186/s13053-022-00241-1
Pål Møller, Toni Seppälä, James G Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J Rasmussen, Liselotte P van Hest, Luigi Ricciardiello, Maija R J Kohonen-Corish, Marjolijn J L Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N Zahary, N Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, Jane Figueiredo, Daniel D Buchanan, Stephen N Thibodeau, Sanne W Ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R Sampson, Mark A Jenkins
{"title":"Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.","authors":"Pål Møller, Toni Seppälä, James G Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J Rasmussen, Liselotte P van Hest, Luigi Ricciardiello, Maija R J Kohonen-Corish, Marjolijn J L Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N Zahary, N Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, Jane Figueiredo, Daniel D Buchanan, Stephen N Thibodeau, Sanne W Ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R Sampson, Mark A Jenkins","doi":"10.1186/s13053-022-00241-1","DOIUrl":"10.1186/s13053-022-00241-1","url":null,"abstract":"<p><strong>Objective: </strong>To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.</p><p><strong>Methods: </strong>CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands.</p><p><strong>Results: </strong>In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups.</p><p><strong>Conclusions: </strong>Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"20 1","pages":"36"},"PeriodicalIF":2.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918770","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}
引用次数: 0
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 在巴基斯坦的一个学术医疗中心,在疑似遗传性乳腺癌患者中使用靶向下一代测序小组和基因型-表型相关性的种系致病变异谱
IF 1.7 4区 医学
Hereditary Cancer in Clinical Practice Pub Date : 2022-06-16 DOI: 10.1186/s13053-022-00232-2
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
{"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}
引用次数: 5
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore 临床特征和基因检测结果怀疑遗传性周围神经鞘肿瘤在新加坡三级癌症机构
IF 1.7 4区 医学
Hereditary Cancer in Clinical Practice Pub Date : 2022-06-13 DOI: 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}
引用次数: 0
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
Hereditary Cancer in Clinical Practice 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.
{"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}
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
Hereditary Cancer in Clinical Practice 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
{"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}
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
Hereditary Cancer in Clinical Practice 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
{"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}
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
Hereditary Cancer in Clinical Practice 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
Hereditary Cancer in Clinical Practice Pub Date : 2022-04-15 DOI: 10.1186/s13053-022-00222-4
Hamad, Reem S., Ibrahim, Muntaser E.
{"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}
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
Hereditary Cancer in Clinical Practice 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.
{"title":"Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?","authors":"McCuaig, Jeanna M., Ferguson, Sarah E., Vicus, Danielle, Ott, Karen, Stockley, Tracy L., Kim, Raymond H., Metcalfe, Kelly A.","doi":"10.1186/s13053-022-00221-5","DOIUrl":"https://doi.org/10.1186/s13053-022-00221-5","url":null,"abstract":"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.","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"51 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138509841","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: 3
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