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Incidental genetic finding

Dhouha Bacha, Abir Chaabane, Fatma Khanche, Saloua Néchi, Hassen Touinsi, Emna Chelbi
Adrenal hemangioma is an uncommon benign vascular tumor that is often discovered incidentally. It has never been reported in association with familial adenomatous polyposis. We report a case of a 60-year old man with a history of familial adenomatous polyposis, in whom a huge retroperitoneal cyst of 18x17 cm was discovered during routine radiologic evaluation. Because of the impossibility of ruling out the presence of malignancy, surgical cystectomy was performed, associated to a scheduled total colectomy. Pathological examination revealed that the cyst corresponded to an adrenal cavernous hemangioma...
August 8, 2016: Clinics and Practice
Andrea Farkas Patenaude, Katherine A Schneider
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents...
October 3, 2016: Journal of Genetic Counseling
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
Paul L Auer, Alex P Reiner, Gao Wang, Hyun Min Kang, Goncalo R Abecasis, David Altshuler, Michael J Bamshad, Deborah A Nickerson, Russell P Tracy, Stephen S Rich, Suzanne M Leal
Massively parallel whole-genome sequencing (WGS) data have ushered in a new era in human genetics. These data are now being used to understand the role of rare variants in complex traits and to advance the goals of precision medicine. The technological and computing advances that have enabled us to generate WGS data on thousands of individuals have also outpaced our ability to perform analyses in scientifically and statistically rigorous and thoughtful ways. The past several years have witnessed the application of whole-exome sequencing (WES) to complex traits and diseases...
October 6, 2016: American Journal of Human Genetics
Emilia Niemiec, Pascal Borry, Wim Pinxten, Heidi Carmen Howard
Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs)...
October 5, 2016: Human Mutation
Richard Hollander, Geert Mortier, Koen van Hoeck
: Hyperkalemia in young children is a rare phenomenon and in many cases caused by hemolysis in the specimen due to difficulties in obtaining a sample. However, hyperkalemia can also be a sign of a rare Mendelian syndrome known as familial hyperkalemic hypertension or pseudohypoaldosteronism type II. This disease is characterized by hyperkalemia, hypertension, and mild hyperchloremic metabolic acidosis (with normal anion gap) despite normal glomerular filtration. Full recovery of these abnormalities with thiazide diuretics is essential not to miss the diagnosis of this syndrome...
September 17, 2016: European Journal of Pediatrics
Stella K Kang, Kayte Spector-Bagdady, Arthur L Caplan, R Scott Braithwaite
Incidental and secondary findings have become an important by-product of diagnostic testing, and their ramifications affect clinical care, research, and policy. Given parallels in the reporting and management of such findings on diagnostic imaging, radiologists may draw from ongoing discussions in medical genetics to rethink more patient-centered approaches to analogous clinical, ethical, and medicolegal dilemmas. Low-risk incidental findings in particular may be drivers of unnecessary testing, invasive procedures, and overtreatment, with associated financial, psychological, and clinical consequences...
August 25, 2016: Journal of the American College of Radiology: JACR
Joanna Lazier, Deborah Fruitman, Julie Lauzon, Francois Bernier, Bob Argiropoulos, Judy Chernos, Oana Caluseriu, Rebecca Simrose, Mary Ann Thomas
OBJECTIVES: To examine the diagnostic performance of array comparative genomic hybridization (CGH) for fetal cardiac anomalies in two medium-sized Canadian prenatal genetics clinics. METHODS: We prospectively recruited 22 pregnant women with fetal structural cardiac anomalies, normal rapid aneuploidy detection, and FISH for 22q11.2 testing for array CGH analysis. RESULTS: One case had an 8p deletion that was also visible on karyotype and included the GATA4 gene, which has been associated with congenital heart disease...
July 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M E van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
PURPOSE: Genome-wide sequencing of cell-free (cf)DNA of pregnant women aims to detect fetal chromosomal imbalances. Because the largest fraction of cfDNA consists of maternal rather than fetal DNA fragments, maternally derived copy-number variants (CNVs) are also measured. Despite their potential clinical relevance, current analyses do not interpret maternal CNVs. Here, we explore the accuracy and clinical value of maternal CNV analysis. METHODS: Noninvasive prenatal testing was performed by whole-genome shotgun sequencing on plasma samples...
September 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Elizabeth Quinlan-Jones, Mark D Kilby, Sheila Greenfield, Michael Parker, Dominic McMullan, Matthew E Hurles, Sarah C Hillman
OBJECTIVE: Focus groups were conducted with individuals involved in prenatal diagnosis to determine their opinions relating to whole exome sequencing in fetuses with structural anomalies. METHOD: Five representatives of patient groups/charities (PRGs) and eight clinical professionals (CPs) participated. Three focus groups occurred (the two groups separately and then combined). Framework analysis was performed to elicit themes. A thematic coding frame was identified based on emerging themes...
October 2016: Prenatal Diagnosis
Jonathan Mayes, Nigel Heaton
Hepatic angiomyolipoma is an extremely rare benign hamartomatous lesion. Situs inversus totalis is a genetic condition occurring in 0.01% of the population. Following the kidney, the liver is the second most common site of angiomyolipoma. No consensus on the treatment of hepatic angiomyolipoma has been reached. However, the majority of these tumours are managed conservatively. Situs inversus totalis presents difficulties for procedures and is most commonly an incidental finding. These two conditions have not previously been reported and no genetic link has been established between them...
2016: Case Reports in Hepatology
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
Nina Tan, Laura M Amendola, Julianne M O'Daniel, Amber Burt, Martha J Horike-Pyne, Lacey Boshe, Gail E Henderson, Christine Rini, Myra I Roche, Fuki M Hisama, Wylie Burke, Benjamin Wilfond, Gail P Jarvik
PURPOSE: There is debate within the genetics community about the optimal term to describe genetic variants unrelated to the test indication but potentially important for health. Given the lack of consensus and the importance of adopting terminology that promotes effective clinical communication, we sought the opinion of clinical genetics patients. METHODS: Surveys and focus groups with two patient populations were conducted. Eighty-eight survey participants were asked to rank four terms according to how well each describes results unrelated to the test indication: incidental findings, secondary findings, additional findings, and ancillary findings...
August 4, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
H Filipová, M Procházka, R Vrtěl
UNLABELLED: Tuberous sclerosis is a disease with an autosomal dominant pattern of inheritance which is characterized by the development of benign tumours in many tissues and organs. Clinical signs are extremely variable, causing mutations in the gene TSC1 or TSC2. Complex formed by the products of the TSC genes regulates cell growth and proliferation by inhibition of mTORC1 signalling. Early diagnosis of TSC is very important to plan appropriate perinatal care. Using ultrasound and eventually MRI it is possible in the prenatal period to capture the following major features of tuberous sclerosis: cardiac rhabdomyo-ma, subependymal nodules, cortical tubers and renal angiomyolipomas...
April 2016: Ceská Gynekologie
Michael J Strong, Eugene Blanchard, Zhen Lin, Cindy A Morris, Melody Baddoo, Christopher M Taylor, Marcus L Ware, Erik K Flemington
Next generation sequencing (NGS) can globally interrogate the genetic composition of biological samples in an unbiased yet sensitive manner. The objective of this study was to utilize the capabilities of NGS to investigate the reported association between glioblastoma multiforme (GBM) and human cytomegalovirus (HCMV). A large-scale comprehensive virome assessment was performed on publicly available sequencing datasets from the Cancer Genome Atlas (TCGA), including RNA-seq datasets from primary GBM (n = 157), recurrent GBM (n = 13), low-grade gliomas (n = 514), recurrent low-grade gliomas (n = 17), and normal brain (n = 5), and whole genome sequencing (WGS) datasets from primary GBM (n = 51), recurrent GBM (n = 10), and normal matched blood samples (n = 20)...
2016: Acta Neuropathologica Communications
C L Bishop, K A Strong, D P Dimmock
Genome wide sequencing is an emerging clinical tool that may provide information on genetic variants that are not directly related to the patient's primary disorder. These incidental findings (IFs) may include information about conditions that can be treated and may also indicate conditions for which treatments are not currently available. Data is currently limited regarding what IFs an individual would want to disclose. This study reports on 305 individual choices for return of IFs that were completed at the Medical College of Wisconsin's clinical sequencing laboratory...
July 8, 2016: Clinical Genetics
Maya Sabatello, Paul S Appelbaum
Whole genome and exome sequencing (WGS/WES) techniques raise hope for a new scale of diagnosis, prevention, and prediction of genetic conditions, and improved care for children. For these hopes to materialize, extensive genomic research with children will be needed. However, the use of WGS/WES in pediatric research settings raises considerable challenges for families, researchers, and policy development. In particular, the possibility that these techniques will generate genetic findings unrelated to the primary goal of sequencing has stirred intense debate about whether, which, how, and when these secondary or incidental findings (SFs) should be returned to parents and minors...
June 2016: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
Shinji Kosugi
Handling of personal genome information is one of the most important current ethical issues in the era of next generation sequencer which is technically progressing at a furious speed, making it 100,000 times faster in only in five years. The author picked up topics of(1) research and clinical guidelines of handling of human genome information, (2) incidental and secondary findings of next generation sequencer in clinical exome and genome sequencing, and (3) so-called direct-to-consumer genetic testing services...
June 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
Holly Emms, Ioanna Tsirou, Treena Cranston, Stylianos Tsagarakis, Ashley B Grossman
Bilateral adrenal macronodular hyperplasia (BMAH) is a rare form of Cushing's syndrome characterised by the presence of bilateral secretory adrenal nodules and hypercortisolism. Familial studies support a genetic basis for BMAH, and the disease has been linked to mutations in ARMC5, a gene shown to have a tumour suppressor-like action in the development of adrenal nodules. This study aimed to investigate whether ARMC5 mutations play a role in the development of incidentally discovered bilateral adrenal nodules...
September 2016: Endocrine
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