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Hereditary genetic susceptibility to cancer

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https://www.readbyqxmd.com/read/28545429/awareness-knowledge-perceptions-and-attitudes-towards-genetic-testing-for-cancer-risk-among-ethnic-minority-groups-a-systematic-review
#1
Katie E J Hann, Madeleine Freeman, Lindsay Fraser, Jo Waller, Saskia C Sanderson, Belinda Rahman, Lucy Side, Sue Gessler, Anne Lanceley
BACKGROUND: Genetic testing for risk of hereditary cancer can help patients to make important decisions about prevention or early detection. US and UK studies show that people from ethnic minority groups are less likely to receive genetic testing. It is important to understand various groups' awareness of genetic testing and its acceptability to avoid further disparities in health care. This review aims to identify and detail awareness, knowledge, perceptions, and attitudes towards genetic counselling/testing for cancer risk prediction in ethnic minority groups...
May 25, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28400895/melanoma-and-basal-cell-carcinoma-in-the-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-an-expansion-of-the-oncologic-spectrum
#2
Lacy L Sommer, Rhonda E Schnur, Warren R Heymann
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported. MAIN OBSERVATIONS: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC. CONCLUSIONS: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28384794/clinical-characterization-of-the-pheochromocytoma-and-paraganglioma-susceptibility-genes-sdha-tmem127-max-and-sdhaf2-for-gene-informed-prevention
#3
Birke Bausch, Francesca Schiavi, Ying Ni, Jenny Welander, Attila Patocs, Joanne Ngeow, Ulrich Wellner, Angelica Malinoc, Elisa Taschin, Giovanni Barbon, Virginia Lanza, Peter Söderkvist, Adam Stenman, Catharina Larsson, Fredrika Svahn, Jin-Lian Chen, Jessica Marquard, Merav Fraenkel, Martin A Walter, Mariola Peczkowska, Aleksander Prejbisz, Barbara Jarzab, Kornelia Hasse-Lazar, Stephan Petersenn, Lars C Moeller, Almuth Meyer, Nicole Reisch, Arnold Trupka, Christoph Brase, Matthias Galiano, Simon F Preuss, Pingling Kwok, Nikoletta Lendvai, Gani Berisha, Özer Makay, Carsten C Boedeker, Georges Weryha, Karoly Racz, Andrzej Januszewicz, Martin K Walz, Oliver Gimm, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann
Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. Objective: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes...
April 6, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28355428/health-disparities-and-triple-negative-breast-cancer-in-african-american-women-a-review
#4
Lisa A Newman, Linda M Kaljee
Importance: Variation in cancer incidence and outcome has well-documented correlations with racial/ethnic identity. In the United States, the possible genetic and ancestral hereditary explanations for these associations are confounded by socioeconomic, cultural, and lifestyle patterns. Differences in the breast cancer burden of African American compared with European/white American women represent one of the most notable examples of disparities in oncology related to racial/ethnic identity...
May 1, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#5
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28257035/rnase-l-suppresses-androgen-receptor-signaling-cell-migration-and-matrix-metalloproteinase-activity-in-prostate-cancer-cells
#6
Shubham Dayal, Jun Zhou, Praveen Manivannan, Mohammad Adnan Siddiqui, Omaima Farid Ahmad, Matthew Clark, Sahezeel Awadia, Rafael Garcia-Mata, Lirim Shemshedini, Krishnamurthy Malathi
The interferon antiviral pathways and prostate cancer genetics converge on a regulated endoribonuclease, RNase L. Positional cloning and linkage studies mapped Hereditary Prostate Cancer 1 (HPC1) to RNASEL. To date, there is no correlation of viral infections with prostate cancer, suggesting that RNase L may play additional roles in tumor suppression. Here, we demonstrate a role of RNase L as a suppressor of androgen receptor (AR) signaling, cell migration and matrix metalloproteinase activity. Using RNase L mutants, we show that its nucleolytic activity is dispensable for both AR signaling and migration...
March 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28243543/development-and-validation-of-a-36-gene-sequencing-assay-for-hereditary-cancer-risk-assessment
#7
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
https://www.readbyqxmd.com/read/28223667/-molecular-diagnosis-and-treatment-of-hboc-syndrome
#8
Yoshio Miki
Hereditary breast and ovarian cancer(HBOC)is an inherited cancer caused by mutations of the BRCA1 or BRCA2 genes. BRCA genetic testing is used for HBOC diagnosis and continues to progress such as the annotation of VUS. In HBOC clinical practice, surveillance methods have been established through collaboration between genetic medicine and cancer medicine, and treatment, including options based on genetic diagnosis, has advanced significantly. Furthermore, the analysis of BRCA1 and BRCA2 function has progressed, and a novel therapeutic method based on synthetic lethality, such as a PARP inhibitor use, has been developed...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28214786/cost-effectiveness-of-risk-reducing-surgeries-in-preventing-hereditary-breast-and-ovarian-cancer
#9
Michael G Schrauder, Lisa Brunel-Geuder, Lothar Häberle, Marius Wunderle, Juliane Hoyer, André Reis, Rüdiger Schulz-Wendtland, Matthias W Beckmann, Michael P Lux
OBJECTIVES: Risk-reducing surgeries are a feasible option for mitigating the risk in individuals with inherited susceptibility to cancer, but are the procedures cost-effective in the current health-care system in Germany? This study compared the health-care costs for bilateral risk-reducing mastectomy (BRRM) and risk-reducing (bilateral) salpingo-oophorectomy (RRSO) with cancer treatment costs that could potentially be prevented. PATIENTS AND METHODS: The analysis is based on interdisciplinary consultations with individuals with a high familial risk for breast and ovarian cancer at the University Breast Center for Franconia (Germany) between 2009 and 2013 (370 consultations; 44 patients with BRCA1 mutations and 26 with BRCA2 mutations)...
April 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28161869/high-resolution-melting-analysis-is-very-useful-to-identify-breast-cancer-type-1-susceptibility-protein-brca1-c-4964_4982del19-rs80359876-founder-calabrian-pathogenic-variant-on-peripheral-blood-and-buccal-swab-dna
#10
Angelo Minucci, Maria De Bonis, Elisa De Paolis, Leonarda Gentile, Concetta Santonocito, Paola Concolino, Flavio Mignone, Ettore Capoluongo
INTRODUCTION: Detection of pathogenic variants in hereditary breast and ovarian cancer-related breast cancer type 1 and type 2 susceptibility proteins (BRCA1/2) genes is an effective strategy in cancer prevention and treatment. Some ethnic and geographical regions show different BRCA1/2 mutation spectrum and prevalence. In Italy, elucidation of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a healthcare system level, making genetic testing more affordable and cost effective in certain regions...
February 4, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28111427/identification-of-a-novel-brca1-pathogenic-mutation-in-korean-patients-following-reclassification-of-brca1-and-brca2-variants-according-to-the-acmg-standards-and-guidelines-using-relevant-ethnic-controls
#11
Ji Soo Park, Eun Ji Nam, Hyung Seok Park, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Seung-Tae Lee
Purpose: Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be used to accurately calculate the odds ratio (OR) of genetic variants. Materials and Methods: Using the ACMG guidelines, we reclassified BRCA1 and BRCA2 mutations and variants of unknown significance in 745 Korean patients susceptible to hereditary breast and ovarian cancer compared with 1,314 Korean population controls...
January 17, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28058502/a-novel-loss-of-function-heterozygous-brca2-c-8946_8947delag-mutation-found-in-a-chinese-woman-with-family-history-of-breast-cancer
#12
Jing Ma, Jichun Yang, Wenjing Jian, Xianming Wang, Deyong Xiao, Wenjun Xia, Likuan Xiong, Duan Ma
INTRODUCTION: Breast cancer is the most frequent female malignancy worldwide. Among them, some cases have hereditary susceptibility in two leading genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovarian and other cancer, following autosomal dominant inheritance mode. METHODS AND RESULTS: For purpose of early finding, early diagnosis and early treatment, mutation detecting of BRCA1/2 genes was performed in unselected 300 breast or ovarian patients and unaffected women using next-generation sequencing and then confirmed by Sanger sequencing...
April 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28009992/identification-of-a-synonymous-variant-in-trim59-gene-for-gastric-cancer-risk-in-a-chinese-population
#13
Dakui Luo, Younan Wang, Xiangkun Huan, Chi Huang, Chao Yang, Hao Fan, Zekuan Xu, Li Yang
Tripartite motif 59 (TRIM59) is a novel oncogenic driver in gastric cancer (GC) that is implicated in disease progression as well as dismal survival. Genetic variants in peculiar gene are likely candidates for conferring hereditary susceptibility. The role of TRIM59 polymorphism in predicting the risk of malignant diseases and its relevance to TRIM59 expression have not been discussed. Using a HapMap tagSNPs approach, we screened three tag TRIM59 single nucleotide polymorphisms (SNPs) (rs1141023G>A, rs7629A>G, rs11706810T>C) which were genotyped in 602 GC patients and 868 healthy controls...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/27978560/prevalence-and-spectrum-of-germline-cancer-susceptibility-gene-mutations-among-patients-with-early-onset-colorectal-cancer
#14
Rachel Pearlman, Wendy L Frankel, Benjamin Swanson, Weiqiang Zhao, Ahmet Yilmaz, Kristin Miller, Jason Bacher, Christopher Bigley, Lori Nelsen, Paul J Goodfellow, Richard M Goldberg, Electra Paskett, Peter G Shields, Jo L Freudenheim, Peter P Stanich, Ilene Lattimer, Mark Arnold, Sandya Liyanarachchi, Matthew Kalady, Brandie Heald, Carla Greenwood, Ian Paquette, Marla Prues, David J Draper, Carolyn Lindeman, J Philip Kuebler, Kelly Reynolds, Joanna M Brell, Amy A Shaper, Sameer Mahesh, Nicole Buie, Kisa Weeman, Kristin Shine, Mitchell Haut, Joan Edwards, Shyamal Bastola, Karen Wickham, Karamjit S Khanduja, Rosemary Zacks, Colin C Pritchard, Brian H Shirts, Angela Jacobson, Brian Allen, Albert de la Chapelle, Heather Hampel
Importance: Hereditary cancer syndromes infer high cancer risks and require intensive cancer surveillance, yet the prevalence and spectrum of these conditions among unselected patients with early-onset colorectal cancer (CRC) is largely undetermined. Objective: To determine the frequency and spectrum of cancer susceptibility gene mutations among patients with early-onset CRC. Design, Setting, and Participants: Overall, 450 patients diagnosed with colorectal cancer younger than 50 years were prospectively accrued from 51 hospitals into the Ohio Colorectal Cancer Prevention Initiative from January 1, 2013, to June 20, 2016...
April 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/27932276/the-why-and-how-of-amino-acid-analytics-in-cancer-diagnostics-and-therapy
#15
REVIEW
Friederike Manig, Konstantin Kuhne, Cläre von Neubeck, Uwe Schwarzenbolz, Zhanru Yu, Benedikt M Kessler, Jens Pietzsch, Leoni A Kunz-Schughart
Pathological alterations in cell functions are frequently accompanied by metabolic reprogramming including modifications in amino acid metabolism. Amino acid detection is thus integral to the diagnosis of many hereditary metabolic diseases. The development of malignant diseases as metabolic disorders comes along with a complex dysregulation of genetic and epigenetic factors affecting metabolic enzymes. Cancer cells might transiently or permanently become auxotrophic for non-essential or semi-essential amino acids such as asparagine or arginine...
January 20, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#16
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899187/genetic-predisposition-to-gastric-cancer
#17
REVIEW
Iva Petrovchich, James M Ford
Gastric cancer ranks as the third leading cause of cancer mortality worldwide and confers a 5-year survival of 20%. While most gastric cancers are sporadic, ~1%-3% can be attributed to inherited cancer predisposition syndromes. Germline E-cadherin/CDH1 mutations have been identified in families with an autosomal dominant inherited predisposition to diffuse gastric cancer. The cumulative risk of gastric cancer for CDH1 mutation carriers by age 80 years is reportedly 70% for men and 56% for women. Female mutation carriers also have an estimated 42% risk for developing lobular breast cancer by age 80 years...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#18
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27888432/candidate-predisposing-germline-copy-number-variants-in-early-onset-colorectal-cancer-patients
#19
A J Brea-Fernandez, C Fernandez-Rozadilla, M Alvarez-Barona, D Azuara, M M Ginesta, J Clofent, L de Castro, D Gonzalez, M Andreu, X Bessa, X Llor, R Xicola, R Jover, A Castells, S Castellvi-Bel, G Capella, A Carracedo, C Ruiz-Ponte
PURPOSE: A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. METHODS/PATIENTS: We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype...
May 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27819754/urological-cancer-related-to-familial-syndromes
#20
Walter Henriques da Costa, George Jabboure, Isabela Werneck da Cunha
Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate dehydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation related RCC...
March 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
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