Application of Clinical Genetics最新文献

{"title":"Identification of a Novel Homozygous Mutation in <i>MTMR2</i> Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1.","authors":"Nan Du, Xiaolei Wang, Zhaohui Wang, Hongwei Liu, Hui Liu, Hongfang Duan, Shaozhi Zhao, Santasree Banerjee, Xinwen Zhang","doi":"10.2147/TACG.S448084","DOIUrl":"10.2147/TACG.S448084","url":null,"abstract":"<p><strong>Background: </strong>Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders involving peripheral nervous system. Charcot-Marie-Tooth disease 4B1 (CMT4B1) is a rare subtype of CMT. CMT4B1 is an axonal demyelinating polyneuropathy with an autosomal recessive mode of inheritance. Patients with CMT4B1 usually manifested with dysfunction of the motor and sensory systems which leads to gradual and progressive muscular weakness and atrophy, starting from the peroneal muscles and finally affecting the distal muscles. Germline mutations in <i>MTMR2</i> gene causes CMT4B1.</p><p><strong>Material and methods: </strong>In this study, we investigated a 4-year-old Chinese boy with gradual and progressive weakness and atrophy of both proximal and distal muscles. The proband's parents did not show any abnormalities. Whole-exome sequencing and Sanger sequencing were performed.</p><p><strong>Results: </strong>Whole-exome sequencing identified a novel homozygous nonsense mutation (c.118A>T; p.Lys40*) in exon 2 of <i>MTMR2</i> gene in the proband. This novel mutation leads to the formation of a truncated MTMR2 protein of 39 amino acids instead of the wild- type MTMR2 protein of 643 amino acids. This mutation is predicted to cause the complete loss of the PH-GRAM domain, phosphatase domain, coiled-coil domain, and PDZ-binding motif of the MTMR2 protein. Sanger sequencing revealed that the proband's parents carried the mutation in a heterozygous state. This mutation was absent in 100 healthy control individuals.</p><p><strong>Conclusion: </strong>This study reports the first mutation in <i>MTMR2</i> associated with CMT4B1 in a Chinese population. Our study also showed the importance of whole-exome sequencing in identifying candidate genes and disease-causing variants in patients with CMT4B1.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"71-84"},"PeriodicalIF":3.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues.","authors":"Zhen Xu, Na Liu, Lu Gao, Dongyi Yu","doi":"10.2147/TACG.S461674","DOIUrl":"10.2147/TACG.S461674","url":null,"abstract":"<p><strong>Background: </strong>The potential causes of miscarriage are very complex, including genetic, immune, infectious, and endocrine factors. 50%-60% of miscarriages are caused by chromosomal abnormalities. Chromosomal microarray analysis (CMA) is a key tool in this context, capable of detecting not only copy number variations (CNV) but also loss of heterozygosity (LOH). CMA has been used as a tool to investigate the genetic reasons for miscarriage.</p><p><strong>Methods: </strong>In our study, chromosomal microarray analysis (CMA) conducted 1220 miscarriage villous tissues. The results from this technology were used to identify the genetic reasons for miscarriage and evaluated strategies for subsequent pre-pregnancy planning.</p><p><strong>Results: </strong>Here, the abnormality rate of miscarriage was 56.07%(684/1220). The aneuploidy rate accounted for 81.14%(555/684), and was significantly higher in group >35-year-old age. The second most common genetic reason for miscarriage was polyploidy, accounting for 10.09%(69/684). Additionally, we discovered loss of heterozygosity (LOH) in a small percentage of cases, accounting for 2.20%(15/684) reason for miscarriage genetic reasons, due to the advantage of CMA can detect isodisomy (a kind of uniparental disomy). 45 cases (6.58%) with copy number variants, which due to the CMA can detect copy number variations.</p><p><strong>Conclusion: </strong>Our study indicated that miscarriage villous tissues should be performed genetic analysis, seek help from professional genetic counseling.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"85-93"},"PeriodicalIF":3.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.","authors":"Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai","doi":"10.2147/TACG.S465244","DOIUrl":"10.2147/TACG.S465244","url":null,"abstract":"<p><p>Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performed genetic diagnostics on a neonatal patient who presented with feeding difficulties, hypotonia, and an atrial septal defect. We utilized a combination of trio-whole exome sequencing and OGM for our analysis. The results revealed an unbalanced translocation between maternal chromosomes 4 and 6 in the proband, ogm[GRch38]t(4:6)(q35.2;q25.3), resulting in a 2.8 Mb deletion at the 4q35 terminal and a 10.2 Mb duplication at the 6q25 terminal. In summary, this study highlights how OGM, in conjunction with other genetic approaches, can unveil the genetic etiology of complex clinical syndromes. Neonatal patients often exhibit low specific phenotypes, underlining the significance of SV detection.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"63-69"},"PeriodicalIF":3.1,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141198903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the <i>AR</i> Gene in Vietnam.","authors":"Nguyen Thanh Tung, Trieu Tien Sang, Tran Van Khoa, Nguyen Van Phong, Tran Hoang Phuong","doi":"10.2147/TACG.S457634","DOIUrl":"10.2147/TACG.S457634","url":null,"abstract":"<p><strong>Background: </strong>Androgen resistance syndrome or androgen insensitivity syndrome (AIS - Androgen Insensitivity Syndrome, OMIM 300068) is an X-linked recessive genetic syndrome causing disorders of sexual development in males. This disease is caused by mutations in the AR gene located on the X chromosome, which encodes the protein that structures the androgen receptor, with the role of receiving androgens. Mutation of the AR gene causes complete or partial loss of androgen receptor function, thereby androgen not being obtained and exerting its effect on target organs, resulting in abnormalities of the male reproductive system due to this organ system, differentiating towards feminization under the influence of estrogen. Disease prevention can be achieved by using pre-implantation genetic diagnosis, which enables couples carrying the mutation to have healthy offspring.</p><p><strong>Aim: </strong>To carry out preimplantation genetic diagnosis of androgen resistance syndrome.</p><p><strong>Methods: </strong>Sanger sequencing was used to detect the mutation in the blood samples of the couple, their son, and 01 embryo that were biopsied on the fifth day based on the findings of next-generation sequencing (NGS) of the affected son. We combined Sanger sequencing and linkage analysis using short tandem repeats (STR) to provide diagnostic results.</p><p><strong>Results: </strong>We performed preimplantation genetic diagnosis for AIS on an embryo from a couple who had previously had an affected son. Consequently, one healthy embryo was diagnosed without the variant NM_000044: c.796del (p.Asp266IlefsTer30).</p><p><strong>Conclusion: </strong>We report on a novel variant (NM_000044: c.796del (p.Asp266IlefsTer30)) in the AR gene discovered in Vietnam. The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of AIS but wish to have healthy children.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"47-56"},"PeriodicalIF":3.1,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.","authors":"Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa","doi":"10.2147/TACG.S438135","DOIUrl":"https://doi.org/10.2147/TACG.S438135","url":null,"abstract":"<p><p>Mutations in the lecithin-cholesterol acyltransferase (<i>LCAT</i>) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial <i>LCAT</i> deficiency (FLD) and Fish Eye Disease (FED). While both phenotypes are characterized by corneal opacities and different forms of dyslipidemia, such as low levels of high-density lipoprotein-cholesterol (HDL-C), FLD exhibits more severe clinical manifestations like splenomegaly, anemia, and renal failure. We describe the first clinically and genetically confirmed case of FLD in Colombia which corresponds to a 46-year-old woman with corneal opacity, hypothyroidism, and dyslipidemia, who does not have any manifestations of renal failure, with two pathogenic heterozygous missense variants in the <i>LCAT</i> gene: <i>LCAT</i> (NM_000229.2):c.803G>A (p.Arg268His) and <i>LCAT</i> (NM_000229.2):c.368G>C (p.Arg123Pro). In silico analysis of the mutations predicted the physicochemical properties of the mutated protein, causing instability and potentially decreased <i>LCAT</i> function. These compound mutations highlight the clinical heterogeneity of the phenotypes associated with <i>LCAT</i> gene mutations.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"23-32"},"PeriodicalIF":3.1,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10893891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139973903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function.","authors":"Kristine Andersen, Torben Hansen, Marit Eika Jørgensen, Ninna Senftleber","doi":"10.2147/TACG.S437484","DOIUrl":"10.2147/TACG.S437484","url":null,"abstract":"<p><strong>Background: </strong>Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is characterized by gastrointestinal symptoms such as stomachache, diarrhea, and weight loss when consuming sucrose, the most common dietary sugar. However, the awareness of the condition in the population and the healthcare system seems to be limited, potentially leading to a higher healthcare burden. Hence, we aimed to investigate whether HO-carriers visit the healthcare system more with gastrointestinal symptoms compared to the control groups by using registry data.</p><p><strong>Methods: </strong>We performed a case-control study identifying cases and controls using genotype information from the 1999-2001 and 2005-2010 Greenlandic health population cohorts. The cases were defined as HO LoF <i>SI</i>-carriers and controls were defined as non-carriers and were matched (1:1) on sex, age, place of residence, and European genetic admixture. We used electronic medical records to assess the number of electronic medical record contacts (EMRc) related to gastrointestinal symptoms and the number of gastrointestinal-related diagnostic procedures.</p><p><strong>Results: </strong>A total of 80 HO-carriers and 80 non-carriers were included. The HO-carriers had 19% more EMRc related to gastrointestinal symptoms (IRR, 1.19, 95% CI [1.02;1.40], p=0.02) and had a 41% higher incidence of gastrointestinal related diagnostic procedures compared to controls (IRR, 1.41, 95% CI [1.05-1.92], p=0.02). Only one HO-carrier was aware of the condition according to the electronic medical records.</p><p><strong>Conclusion: </strong>HO-carriers of the LoF <i>SI-</i>variant had both significantly more gastrointestinal-related EMRc and significantly more diagnostic procedures conducted due to gastrointestinal symptoms. Only one HO-carrier was aware of the condition. Given the high prevalence of HO-carriers in the Greenlandic population, we anticipate that diagnosing more patients with CSID and providing dietary advice could potentially reduce symptom burden and healthcare visits among HO-carriers.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"17 ","pages":"15-21"},"PeriodicalIF":3.1,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10849137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139703636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation.","authors":"Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky","doi":"10.2147/TACG.S438957","DOIUrl":"10.2147/TACG.S438957","url":null,"abstract":"<p><strong>Introduction: </strong>Sudden cardiac death (SCD) is a serious threat. In individuals under the age of 35 years sudden arrhythmic death is the most frequent cause. In younger persons, genetically determined cardiac diseases (eg, cardiomyopathies and ion-channel diseases) account for an important proportion of these cases.</p><p><strong>Methods: </strong>We investigated the case of a 23-year-old male with SCD, specific ECG changes and left ventricular hypertrophy. Family history was significant for SCD in the paternal line. A precise analysis was performed by an international multidisciplinary expert panel including autopsy of the index patient's heart, molecular autopsy, whole-exome sequencing, analysis of the pedigree and examination of available family members.</p><p><strong>Results: </strong>Three cases of SCD were reported in paternal relatives. The index patient exhibited specific ECG changes (ST-depression), which were also found in five paternal relatives and the brother of the index patient. Post-mortem analysis of the heart yielded mild idiopathic concentric hypertrophy without myocardial disarray. The genetic analysis of the index patient showed two nucleotide variations in two different genes (<i>ANK2: c.11791G>A, MYO18B: c.3761G>A</i>), which were also expressed in five relatives. Two family members had showed all indicators of the inherited syndrome including distinct ECG changes and genetic changes.</p><p><strong>Conclusion: </strong>We describe a distinct inheritable syndrome causing SCD, characterized by specific ECG changes and mutations of <i>ANK2</i> and <i>MYO18</i>. As far as we know this is the first description of this syndrome.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"233-239"},"PeriodicalIF":3.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139038005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population.","authors":"Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana","doi":"10.2147/TACG.S435016","DOIUrl":"10.2147/TACG.S435016","url":null,"abstract":"<p><strong>Introduction: </strong>Vitiligo is an acquired depigmenting skin disorder due to the loss of melanocyte function in the epidermis and hair follicles. The pathogenesis of vitiligo is multifactorial, with genetics being a predisposing factor. Previous studies had varying results regarding whether or not polymorphisms of vitamin D receptor (<i>VDR</i>) gene are associated with the risk of vitiligo in specific populations. This study investigated the association between three frequently analyzed <i>VDR</i> gene polymorphisms (<i>ApaI, BsmI, TaqI</i>) and susceptibility to vitiligo in Indonesian population.</p><p><strong>Methods: </strong>Thirty-four vitiligo patients and 34 age- and sex-matched healthy subjects aged ≥18 years old were recruited in the Dermatology and Venereology Outpatient Clinic of Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Genomic deoxyribonucleic acid (DNA) was extracted from the peripheral blood using a DNA isolation kit. <i>VDR</i> gene polymorphisms (<i>ApaI, BsmI, and TaqI</i>) were investigated using the polymerase chain reaction-restriction-fragment length polymorphism method. The differences of genotype distributions and allele frequencies were statistically compared between case and control groups using Chi-square test.</p><p><strong>Results: </strong><i>VDR</i> gene polymorphisms were identified in 68 participants, consisting of Aa (n = 14), aa (n = 20), Bb (n = 15), bb (n = 19), and TT (n = 34) genotypes in the case group. In the control group, Aa (n = 6), aa (n = 28), Bb (n = 17), bb (n = 17), and TT (n = 34) genotypes were identified. However, only subjects with <i>ApaI</i> Aa genotype polymorphism had a 3.267-fold increased risk of developing vitiligo.</p><p><strong>Conclusion: </strong>This study showed that <i>ApaI</i> Aa genotype polymorphism of the <i>VDR</i> gene increases the risk of vitiligo in Indonesian population.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"225-232"},"PeriodicalIF":3.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139038006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations.","authors":"Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan","doi":"10.2147/TACG.S434470","DOIUrl":"10.2147/TACG.S434470","url":null,"abstract":"<p><strong>Background: </strong>Hemophilia cannot be diagnosed in most laboratories of economically less-developed countries leading to high mortality and morbidity rates.</p><p><strong>Aim: </strong>A diagnostic tool was established ranging from bleeding assessment and a simple bedside test of mixing venous clotting time (VCT) to comprehensive DNA analysis for patients with hemophilia.</p><p><strong>Methods: </strong>Patients with known (n=80) and suspected hemophilia (n=14) were included. Their bleeding symptoms were initially evaluated using verified translated-Thai ISTH bleeding assessment tool. Then, blood samples were drawn using a two-syringe technique, 2 mL each was placed in three tubes, for the mixing VCT and citrate blood was kept for coagulogram and coagulation factor assay. Finally, DNA analysis was determined.</p><p><strong>Results: </strong>A total of 94 patients with hemophilia (A68, B26) defined as severe (A 57, B 17), moderate (A 7, B 5), and mild degrees (A 4, B 4) with the mean (SD) age of 14.0 (11.7) years and 24 normal controls aged 25.5 (4.5), were enrolled in the study. The mean (SD) bleeding score of patients with hemophilia was 13.5 (5.5), which did not significantly differ between patients with hemophilia A and B. The mixing venous clotting time offered the presumptive diagnosis of hemophilia A and B, which were subsequently confirmed by the prolonged APTT, low FVIII:C and FIX:C and mutations on the factor VIII and IX genes.</p><p><strong>Conclusion: </strong>A diagnostic tool for bleeding assessment, mixing venous clotting time, coagulogram, coagulation factor assay, and DNA analysis for patients with hemophilia has been established in the existing health-care system.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"215-223"},"PeriodicalIF":3.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138499681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics.","authors":"Bastien Grandjean, Amina Scherz, Manuela Rabaglio","doi":"10.2147/TACG.S410261","DOIUrl":"10.2147/TACG.S410261","url":null,"abstract":"<p><strong>Introduction: </strong>Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, other oncogenetic centers have reported an increase in consultations. We conducted a retrospective review of the oncogenetic consultations at our center to evaluate the presence and the consequences of a potential \"Angelina Jolie effect\" and to characterize this patient population over a decade.</p><p><strong>Methods: </strong>All initial oncogenetic consultations between 2005 and 2015 were collected, using electronic records. Demographics, cancer type, testing, and mutation results, as well as consultation rates, were recorded. The yearly trends were analyzed using Joinpoint regression analysis (JPA).</p><p><strong>Results: </strong>In total, 823 patient cases were included, mostly women (84%), half of them with a positive personal cancer history. A hereditary breast and ovarian cancer (HBOC) risk was the main reason for consultation (72%). Moreover, 22% of patients had a previously detected familial mutation. Two-thirds underwent testing, which yielded a positive test result in 31% of the cases. According to JPA, the consultation rate increased throughout the decade, with a significant upward trend from 2013. Rates of testing and positive results remained stable over time. Most patients (86%) fulfilled the referral criteria of published guidelines.</p><p><strong>Discussion: </strong>At our center, we found retrospectively a disproportionate growth in the referral rate for HBOC cases compared to other oncological cases after the year 2013, but overall, no change in testing rates was detected.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"205-213"},"PeriodicalIF":2.6,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107592447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}