Hereditary Cancer in Clinical Practice最新文献

{"title":"Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland","authors":"Złowocka-Perłowska, Elżbieta, Tołoczko-Grabarek, Aleksandra, Narod, Steven A., Lubiński, Jan","doi":"10.1186/s13053-022-00220-6","DOIUrl":"https://doi.org/10.1186/s13053-022-00220-6","url":null,"abstract":"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.","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"53 4","pages":"13"},"PeriodicalIF":1.7,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138509787","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}

{"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}

{"title":"Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.","authors":"Alicja Ogrodniczak,&nbsp;Janusz Menkiszak,&nbsp;Jacek Gronwald,&nbsp;Joanna Tomiczek-Szwiec,&nbsp;Marek Szwiec,&nbsp;Cezary Cybulski,&nbsp;Tadeusz Dębniak,&nbsp;Tomasz Huzarski,&nbsp;Aleksandra Tołoczko-Grabarek,&nbsp;Tomasz Byrski,&nbsp;Katarzyna Białkowska,&nbsp;Karolina Prajzendanc,&nbsp;Piotr Baszuk,&nbsp;Jan Lubiński,&nbsp;Anna Jakubowska","doi":"10.1186/s13053-022-00218-0","DOIUrl":"https://doi.org/10.1186/s13053-022-00218-0","url":null,"abstract":"<p><strong>Background: </strong>There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs.</p><p><strong>Methods: </strong>The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-grade ovarian cancer, as well as the association of tested mutations with survival, was estimated.</p><p><strong>Results: </strong>The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival. Mutations in BRCA1 and PALB2 were associated with a high risk of ovarian cancer G1 (OR=8.53, p=0.005 and OR=7.03, p=0.03, respectively) and were related to worse all-cause survival for BRCA1 carriers (HR=4.73, 95%CI 1.45-15.43, p=0.01).</p><p><strong>Conclusions: </strong>Results suggest that CHEK2 (c.470T>C) may possibly play a role in the pathogenesis of BOT, but due to the low number of BOT patients, obtained results should be considered as preliminary. Larger more in-depth studies are required.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"11"},"PeriodicalIF":1.7,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8935754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40311014","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}

{"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}

{"title":"Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors","authors":"Zhang, Fan, Yu, Xiaohui, Wang, Xiaoli, Shao, Hua","doi":"10.1186/s13053-022-00216-2","DOIUrl":"https://doi.org/10.1186/s13053-022-00216-2","url":null,"abstract":"Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromosome 11q13. We found a Chinese woman who had a pancreatic tumor, parathyroid tumor, adrenal tumor, and suspicion of gastrinoma. The proband and her immediate family members underwent genetic detection. The results showed that two of the proband’s six relatives had the same variants as the proband, and her sister also had the typical symptoms of MEN1. However, the first- and second-time genetic detection results showed that they were homozygous variants, which did not conform to Mendelian inheritance laws. Multiplex ligation-dependent probe amplification (MLPA) was used to rule out homozygous variants caused by a deletion of gene fragments in the proband and her immediate family members. The MLPA results showed that the gene deletion was absent in the MEN1. The results from the third genetic detection (redesigned the primer) showed that they had a heterozygous variant. A new MEN1 germline variant [c.201delC (p.Ala68Profs*51)], which could induce MEN1, was found in this study. This newly identified germline variant could improve the identification of clinical phenotypes and the early diagnosis of MEN1. Clinician should consider the present of situation that intron variant causing detection error. Re-designing the primers close to the variant site for gene detection could avoid this situation.","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"52 4","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138509799","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}

{"title":"Women's perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform.","authors":"Saima Ahmed,&nbsp;Emmanuelle Lévesque,&nbsp;Rosalind Garland,&nbsp;Bartha Knoppers,&nbsp;Michel Dorval,&nbsp;Jacques Simard,&nbsp;Carmen G Loiselle","doi":"10.1186/s13053-022-00214-4","DOIUrl":"https://doi.org/10.1186/s13053-022-00214-4","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer risk stratification categorizes a woman's potential risk of developing the disease as near-population, intermediate, or high. In accordance, screening and follow up for breast cancer can readily be tailored following risk assessment. Recent efforts have focussed on developing more accessible means to convey this information to women. This study sought to document the relevance of an informational e-platform developed for these purposes.</p><p><strong>Objective: </strong>To begin to assess a newly developed breast cancer risk stratification and decision support e-platform called PERSPECTIVE (PErsonalised Risk Stratification for Prevention and Early deteCTIon of breast cancer) among women who do not know their personal breast cancer risk (Phase 1). Changes (pre- and post- e-platform exposure) in knowledge of breast cancer risk and interest in undergoing genetic testing were assessed in addition to perceptions of platform usability and acceptability.</p><p><strong>Methods: </strong>Using a pre-post design, women (N = 156) of differing literacy and education levels, aged 30 to 60, with no previous breast cancer diagnosis were recruited from the general population and completed self-report e-questionnaires.</p><p><strong>Results: </strong>Mean e-platform viewing time was 18.67 min (SD 0.65) with the most frequently visited pages being breast cancer-related risk factors and risk assessment. Post-exposure, participants reported  significantly higher breast cancer-related knowledge (p < .001). Increases in knowledge relating to obesity, alcohol, breast density, menstruation, and the risk estimation process remained even when sociodemographic variables age and education were controlled. There were no significant changes in genetic testing interest post-exposure. Mean ratings for e-platform acceptability and usability were high: 26.19 out of 30 (SD 0.157) and 42.85 out of 50 (SD 0.267), respectively.</p><p><strong>Conclusions: </strong>An informative breast cancer risk stratification e-platform targeting healthy women in the general population can significantly increase knowledge as well as support decisions around breast cancer risk and assessment. Currently underway, Phase 2, called PERSPECTIVE, is seeking further content integration and broader implementation .</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"8"},"PeriodicalIF":1.7,"publicationDate":"2022-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39669816","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}

{"title":"Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system.","authors":"Kristin R Muessig,&nbsp;Jamilyn M Zepp,&nbsp;Erin Keast,&nbsp;Elizabeth E Shuster,&nbsp;Ana A Reyes,&nbsp;Briana Arnold,&nbsp;Chalinya Ingphakorn,&nbsp;Marian J Gilmore,&nbsp;Tia L Kauffman,&nbsp;Jessica Ezzell Hunter,&nbsp;Sarah Knerr,&nbsp;Heather S Feigelson,&nbsp;Katrina A B Goddard","doi":"10.1186/s13053-022-00213-5","DOIUrl":"https://doi.org/10.1186/s13053-022-00213-5","url":null,"abstract":"<p><strong>Background: </strong>A critical step in access to genetic testing for hereditary cancer syndromes is referral for genetic counseling to assess personal and family risk. Individuals meeting testing guidelines have the greatest need to be evaluated. However, referrals to genetics are underutilized in US patients with hereditary cancer syndromes, especially within traditionally underserved populations, including racial and ethnic minorities, low-income, and non-English speaking patients.</p><p><strong>Methods: </strong>We studied existing processes for referral to genetic evaluation and testing for hereditary cancer risk to identify areas of potential improvement in delivering these services, especially for traditionally underserved patients. We conducted a retrospective review of 820 referrals to the Kaiser Permanente Northwest (KPNW) genetics department containing diagnosis codes for hereditary cancer risk. We classified referrals as high- or low-quality based on whether sufficient information was provided to determine if patients met national practice guidelines for testing. Through chart abstraction, we also assessed consistency with practice guidelines, whether the referral resulted in a visit to the genetics department for evaluation, and clinical characteristics of patients receiving genetic testing.</p><p><strong>Results: </strong>Most referrals (n = 514, 63%) contained sufficient information to assess the appropriateness of referral; of those, 92% met practice guidelines for genetic testing. Half of referred patients (50%) were not offered genetic evaluation; only 31% received genetic testing. We identified several barriers to receiving genetic evaluation and testing, the biggest barrier being completion of a family history form sent to patients following the referral. Those with a referral consistent with testing guidelines, were more likely to receive genetic testing than those without (39% vs. 29%, respectively; p = 0.0058). Traditionally underserved patients were underrepresented in those receiving genetic evaluation and testing relative to the overall adult KPNW population.</p><p><strong>Conclusions: </strong>Process improvements are needed to increase access to genetic services to diagnose hereditary cancer syndromes prior to development of cancer.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"7"},"PeriodicalIF":1.7,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39783946","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}

{"title":"\"It was an important part of my treatment\": a qualitative study of Norwegian breast Cancer patients' experiences with mainstreamed genetic testing.","authors":"Nina Strømsvik,&nbsp;Pernilla Olsson,&nbsp;Berit Gravdehaug,&nbsp;Hilde Lurås,&nbsp;Ellen Schlichting,&nbsp;Kjersti Jørgensen,&nbsp;Teresia Wangensteen,&nbsp;Tone Vamre,&nbsp;Cecilie Heramb,&nbsp;Lovise Mæhle,&nbsp;Eli Marie Grindedal","doi":"10.1186/s13053-022-00212-6","DOIUrl":"https://doi.org/10.1186/s13053-022-00212-6","url":null,"abstract":"<p><strong>Background: </strong>In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic variant or have a family history of cancer. This practice is termed \"mainstreamed genetic testing\". The aim of this study was to learn about patients' experience of this healthcare service.</p><p><strong>Methods: </strong>Qualitative in-depth interviews were conducted with 22 breast cancer patients who had been diagnosed during the first half of 2016 or 2017 at one regional and one university hospital and who had been offered testing by their treating physician. A six-phase thematic approach was used to analyse the data.</p><p><strong>Results: </strong>The participants had varied experiences of how and when testing was offered. Three main themes emerged from the analysis: 1. informational and communicational needs and challenges during a chaotic time, 2. the value of genetic testing and 3. the importance of standardised routines for mainstreamed genetic testing.</p><p><strong>Conclusions: </strong>Despite the shock of their diagnosis and the varying experiences they had in respect of how and when testing was offered, all of the participants emphasised that genetic testing had been an important part of their diagnosis and treatment. Our results indicate that there is a need for continuous collaboration between geneticists, surgeons, oncologists and laboratory specialists in order to establish simple and robust routines so as to ensure that all eligible breast cancer patients are offered testing at a point when the test result can have an impact on treatment.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"6"},"PeriodicalIF":1.7,"publicationDate":"2022-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39891917","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}

{"title":"Progress of HOTAIR-microRNA in hepatocellular carcinoma.","authors":"Bing-Rong Wang,&nbsp;Dong-Xia Chu,&nbsp;Mei-Yu Cheng,&nbsp;Yu Jin,&nbsp;Hao-Ge Luo,&nbsp;Na Li","doi":"10.1186/s13053-022-00210-8","DOIUrl":"https://doi.org/10.1186/s13053-022-00210-8","url":null,"abstract":"<p><p>The Hox transcript antisense intergenic RNA (HOTAIR) has been identified as a tumor gene, and its expression in HCC is significantly increased. HOTAIR is associated with the proliferation, invasion, metastasis and poor prognosis of HCC. In addition, HOTAIR can also regulate the expression and function of microRNA by recruiting the polycomb repressive complex 2 (PRC2) and competitive adsorption, thus promoting the occurrence and development of HCC. In this review, we discussed the two mechanisms of HOTAIR regulating miRNA through direct binding miRNA and indirect regulation, and emphasized the role of HOTAIR in HCC through miRNA, explained the regulatory pathway of HOTAIR-miRNA-mRNA and introduced the role of this pathway in HCC proliferation, drug resistance, invasion and metastasis.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"4"},"PeriodicalIF":1.7,"publicationDate":"2022-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8800341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39869598","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}

{"title":"Pregnancy after breast cancer in BRCA1/2 mutation carriers.","authors":"Jelena Maksimenko,&nbsp;Arvīds Irmejs,&nbsp;Jānis Gardovskis","doi":"10.1186/s13053-022-00209-1","DOIUrl":"https://doi.org/10.1186/s13053-022-00209-1","url":null,"abstract":"<p><strong>Background: </strong>Often young women affected with BRCA1/2 positive breast cancer have not finished or even not started their childbearing before the onset of the disease. The aim of our mini-review is to summarize state of art knowledge on pregnancy after breast cancer in BRCA1/2 carriers.</p><p><strong>Methods: </strong>A broad review of the literature was conducted using MEDLINE (via PubMed) for relevant articles published. This review summarizes the impact of different cytotoxic agents on a fertility, fertility preservation, maternal and fetal prognosis after pregnancy in breast cancer survivors with BRCA1/2.</p><p><strong>Conclusion: </strong>According to the existing literature evidence pregnancy after therapy for breast cancer in BRCA carriers is safe for the mother and offspring, but patients' needs, oncofertility counseling and fertility-sparing strategy should be carefully planned before starting the cytotoxic treatment.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"3"},"PeriodicalIF":1.7,"publicationDate":"2022-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8781048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39846913","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}