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Hereditary Cancer in Clinical Practice

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https://www.readbyqxmd.com/read/30214643/polyglobulia-in-patients-with-hemangioblastomas-is-related-to-tumor-size-but-not-to-serum-erythropoietin
#1
Marie T Krüger, Jan-Helge Klingler, Cordula Jilg, Christine Steiert, Stefan Zschiedrich, Vera Van Velthoven, Sven Gläsker
Background: Hemangioblastomas are associated with elevated hemoglobin (Hb) levels (polyglobulia), which is associated with a higher risk for cerebral stroke, cardiac infarction and pulmonary embolism. The pathomechanism of polyglobulia remains unclear and different theories have been postulated. Among those are elevated serum erythropoietin (EPO) levels caused by secretion of the tumor or associated tumor cyst. Methods: To elucidate the pathomechanism, we systematically investigated the relation between polyglobulia, serum EPO level, size of the solid tumor and associated cyst in hemangioblastomas...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/30065793/cd36-a-plausible-modifier-of-disease-phenotype-in-familial-adenomatous-polyposis
#2
Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G Pockney, Rodney J Scott, Bente A Talseth-Palmer
Background: Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consistently suggested the role of modifier genes in determining disease phenotype, yet none have been substantiated in the human population. The mouse homologue of cluster of differentiation 36 ( CD36) has been proposed as a modifier of disease in the MIN mouse model of FAP...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29997716/a-qualitative-study-of-barriers-to-genetic-counseling-and-potential-for-mobile-technology-education-among-women-with-ovarian-cancer
#3
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A Geller
Background: National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and prevention options exist for at-risk family members. Despite these recommendations, uptake of genetic counselling and testing is low. The goal of this study was to identify barriers to and motivators for receipt of genetic counseling along with preferences regarding potential use of a mobile application to promote genetic counseling...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29928469/high-frequency-of-pathogenic-non-founder-germline-mutations-in-brca1-and-brca2-in-families-with-breast-and-ovarian-cancer-in-a-founder-population
#4
J Maksimenko, A Irmejs, G Trofimovičs, D Bērziņa, E Skuja, G Purkalne, E Miklaševičs, J Gardovskis
Background: Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significantly impact the medical management of patients. The aim of the study was to evaluate the rate of pathogenic mutations in the 26 breast and ovarian cancer susceptibility genes in patients who meet the criteria for BRCA1/2 testing and to compare the accuracy of different selection criteria for second-line testing in a founder population...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29760830/patient-and-provider-perspectives-on-adherence-to-and-care-coordination-of-lynch-syndrome-surveillance-recommendations-findings-from-qualitative-interviews
#5
Jennifer L Schneider, Katrina A B Goddard, Kristin R Muessig, James V Davis, Alan F Rope, Jessica E Hunter, Susan K Peterson, Louise S Acheson, Sapna Syngal, Georgia L Wiesner, Jacob A Reiss
Background: Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29760829/challenges-in-recruiting-african-american-women-for-a-breast-cancer-genetics-study
#6
Amanda J Compadre, Melinda E Simonson, Katy Gray, Gail Runnells, Susan Kadlubar, Kristin K Zorn
Background: African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in African-American women in Arkansas with a personal and/or family history of breast cancer. Women were tested for these mutations using a large panel of breast cancer susceptibility genes. In this analysis, we discuss the challenges encountered in recruiting African-American women from an existing biorepository to participate in this study...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29745381/retraction-note-to-the-brca2-variant-c-68-7-t-a-is-associated-with-breast-cancer
#7
Pål Møller, Eivind Hovig
[This retracts the article DOI: 10.1186/s13053-017-0080-y.].
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29719582/platinum-based-neoadjuvant-chemotherapy-in-brca1-positive-breast-cancer-a-retrospective-cohort-analysis-and-literature-review
#8
Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne, Janis Gardovskis
Background: There is increasing evidence of high platinum sensitivity in BRCA -associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based chemotherapy for BRCA1-positive breast cancer in a neoadjuvant setting. Methods: A retrospective study was performed by obtaining information from patient files. The results were compared with the available data from a literature review. Results: Twelve female patients with BRCA1 gene mutations who had stage I to III breast cancers were eligible for evaluation...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29541281/cdkn2a-founder-mutation-in-pancreatic-ductal-adenocarcinoma-patients-without-cutaneous-features-of-familial-atypical-multiple-mole-melanoma-fammm-syndrome
#9
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29492181/frequency-of-brca1-and-brca2-causative-founder-variants-in-ovarian-cancer-patients-in-south-east-poland
#10
Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A Narod, Jacek Gronwald
Background: Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Methods: We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29371908/genetic-variants-of-prospectively-demonstrated-phenocopies-in-brca1-2-kindreds
#11
Mev Dominguez-Valentin, D Gareth R Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Background: In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic BRCA1/2 variant ( path_BRCA1 or path_BRCA2 )...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29339979/-brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#12
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Background: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2 , have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29312473/central-nervous-system-gadolinium-accumulation-in-patients-undergoing-periodical-contrast-mri-screening-for-hereditary-tumor-syndromes
#13
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläsker
Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29308099/evaluation-of-a-27-gene-inherited-cancer-panel-across-630-consecutive-patients-referred-for-testing-in-a-clinical-diagnostic-laboratory
#14
Sabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M Okamoto, Geraldine McDowell, Melissa A Hayden, Narasimhan Nagan
Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#15
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia ( BRAF , KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29158857/the-brca2-variant-c-68-7-t-a-is-associated-with-breast-cancer
#16
Pål Møller, Eivind Hovig
Background: BRCA2 c.68-7T>A has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic BRCA2 variants. The pathogenicity of the variant is discussed. Methods: The outpatient genetic clinic at The Norwegian Radium Hospital, part of Oslo University Hospital, has invited breast cancer kindreds for genetic examinations and prospective follow-up of high risk patients since 1988...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29093764/clinical-and-genetic-characterization-of-hereditary-breast-cancer-in-a-chinese-population
#17
Wenjing Jian, Kang Shao, Qi Qin, Xiaohong Wang, Shufen Song, Xianming Wang
Background: Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29046738/colorectal-cancer-incidence-in-path_mlh1-carriers-subjected-to-different-follow-up-protocols-a-prospective-lynch-syndrome-database-report
#18
Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M Frayling, John-Paul Plazzer, Julian R Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller
BACKGROUND: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1 ) despite follow-up with colonoscopy including polypectomy. METHODS: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy ( n  = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently ( n  = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29026449/emotional-impact-on-the-results-of-brca1-and-brca2-genetic-test-an-observational-retrospective-study
#19
Sara Mella, Barbara Muzzatti, Riccardo Dolcetti, Maria Antonietta Annunziata
BACKGROUND: BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history and major socio-demographic variables. METHODS: The study, an observational retrospective one, involved 91 women, evaluated 1 month after receiving their results...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29021870/the-potential-role-of-mirnas-in-therapy-of-breast-and-ovarian-cancers-associated-with-brca1-mutation
#20
REVIEW
Agnieszka Strumidło, Sylwia Skiba, Rodney J Scott, Jan Lubiński
Germline variants within BRCA1 or BRCA2 genes account for approximately 25% of familial aggregations of breast-ovarian cancers. Low or no expression of BRCA1 in breast and ovarian cancers is associated with a good clinical response to treatment with platinum therapies and PARP1 inhibitors. Recent studies demonstrated that microRNAs - small non-coding RNAs, involved in the control of gene expression, can decrease BRCA1 expression by targeting the 3'UTR region of the gene. This article reviews reported relationships between various miRNAs, such as miRNA-9, miRNA-146a, miRNA-182 miRNA-218, miRNA-638 and the response to cytostatic drugs, mainly to platins and PARP1 inhbitors, for the treatment of breast and ovarian cancer associated with BRCA1 mutations...
2017: Hereditary Cancer in Clinical Practice
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