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https://www.readbyqxmd.com/read/28828701/inherited-predisposition-to-breast-and-ovarian-cancer-in-non-jewish-populations-in-israel
#1
Jamal Zidan, Alicia Y Zhou, Jeroen van den Akker, Yael Laitman, Hagit Schayek, Julia Schnaider, Eitan Friedman
PURPOSE: The contribution of genetic factors to cancer in non-Jewish populations in Israel is understudied. Yet the early, mostly premenopausal age at breast cancer diagnosis is suggestive of an inherited predisposition. METHODS: High-risk cancer cases of non-Jewish origin who were counseled at the Oncogenetics unit, Sheba Medical Center and the oncology institute at the Ziv medical center from January 1, 2000 to December 31 2016 were eligible. DNA extracted from leukocytes was subjected to massive parallel, next-generation sequencing using the Color Genomics platform...
August 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28727877/genetic-predisposition-to-breast-cancer-due-to-mutations-other-than-brca1-and-brca2-founder-alleles-among-ashkenazi-jewish-women
#2
Tom Walsh, Jessica B Mandell, Barbara M Norquist, Silvia Casadei, Suleyman Gulsuner, Ming K Lee, Mary-Claire King
Importance: Among Ashkenazi Jewish women, 3 mutations in BRCA1 and BRCA2 severely increase the risk of breast and ovarian cancer. However, among Ashkenazi Jewish patients with breast cancer who do not carry one of these founder mutations, the likelihood of carrying another pathogenic mutation in BRCA1 or BRCA2 or another breast cancer gene is not known. This information would be valuable to the patient and family for cancer prevention and treatment. Objective: To determine the frequency of cancer-predisposing mutations other than the BRCA1 and BRCA2 founder alleles among patients of Ashkenazi Jewish ancestry with breast cancer...
July 20, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28679692/an-unusual-genomic-variant-of-pancreatic-ductal-adenocarcinoma-with-an-indolent-clinical-course
#3
Zachary A Kohutek, Lauren M Rosati, Junguei Hong, Justin Poling, Marc A Attiyeh, Alvin Makohon-Moore, Joseph M Herman, Christine A Iacobuzio-Donahue
We describe an 85-yr-old male of Ashkenazi Jewish descent with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA). The patient underwent a modified course of gemcitabine and stereotactic body radiation therapy and survived for 42 mo with a stable pancreatic head mass and no evidence of metastatic disease before death due to complications from a stroke. Whole-exome sequencing of his tumor revealed a simple genome landscape with no evidence of mutations, copy-number changes, or structural alterations in genes most commonly associated with PDA (i...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28612095/maternal-fetal-vitamin-d-receptor-polymorphisms-significantly-associated-with-preterm-birth
#4
Talya Rosenfeld, Hagit Salem, Gheona Altarescu, Sorina Grisaru-Granovsky, Aharon Tevet, Ruth Birk
PURPOSE: Preterm birth (PTB) is a complex trait with strong genetic background, whose etiology is not fully understood. It was recently suggested that pregnancy duration is affected by fetal genetic variation even more than by the maternal genome. Vitamin D receptor (VDR) is involved in embryonic implantation and fertility. We studied the association between both maternal and neonatal vitamin D receptor (VDR) genetic variation and PTB. METHODS: Maternal and fetal (umbilical cord) DNA was isolated from Jewish Israeli idiopathic preterm newborns (24-36 weeks, n = 146) and control term newborns (>37 weeks, n = 229)...
August 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28002332/the-association-of-the-mthfr-c677t-polymorphism-with-inflammatory-bowel-diseases-in-the-israeli-jewish-population-an-example-of-genetic-heterogeneity
#5
Amir Karban, Tzah Feldman, Matti Waterman, Ronit Leiba, Edna Efrati
MTHFR C677T is a common gene polymorphism that has been shown to be associated with hyperhomocysteinemia. Studies on the role of MTHFR in inflammatory bowel diseases (IBD) have yielded conflicting results, perhaps due in part to genetic heterogeneity. The prevalence of the MTHFR C677T variant allele varies according to Jewish subpopulations: Ashkenazi vs non-Ashkenazi. The aim of this study was to examine the association between MTHFR C677T genotype and IBD in the different Jewish populations.DNA samples were assessed for the presence of the MTHFR C677T variant allele in 445 Jewish Israeli IBD patients: 338 with Crohn's disease [CD] (214 Ashkenazi and 124 non-Ashkenazi Jews) and 107 with ulcerative colitis [UC] (73 Ashkenazi and 34 non-Ashkenazi Jews), and in 347 healthy controls: 173 Ashkenazi and 174 Non-Ashkenazi Jews...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27866339/recurrent-tp53-missense-mutation-in-cancer-patients-of-arab-descent
#6
Aviad Zick, Luna Kadouri, Sherri Cohen, Michael Frohlinger, Tamar Hamburger, Naama Zvi, Morasha Plaser, Eilat Avital, Shani Breuier, Firase Elian, Azzam Salah, Yael Goldberg, Tamar Peretz
Hereditary cancer comprises more than 10% of all breast cancer cases. Identification of germinal mutations enables the initiation of a preventive program that can include early detection or preventive treatment and may also have a major impact on cancer therapy. Several recurrent mutations were identified in the BRCA1/2 genes in Jewish populations however, in other ethnic groups in Israel, no recurrent mutations were identified to date. Our group established panel sequencing in cancer patients to identify recurrent, founder, and new mutations in the heterogeneous and diverse populations in Israel, We evaluated five breast cancer patients of Arab descent diagnosed with cancer before the age of 50 years and identified the previously described TP53 mutation, c...
April 2017: Familial Cancer
https://www.readbyqxmd.com/read/27747088/is-it-time-to-split-strategies-to-treat-homologous-recombinant-deficiency-in-pancreas-cancer
#7
REVIEW
Min Yuen Teo, Eileen M O'Reilly
Pancreatic cancer is a highly lethal malignancy which tends to present with late stage disease. To date, identification of oncogenic drivers and aberrations has not led to effective targeted therapy. Approximately 5-15% of pancreatic cancer has an inheritable component. In fact, pancreatic adenocarcinoma is now recognized as a BRCA1/2-related cancer. Germline BRCA1/2 mutations can be found in up to 3.6-7% of unselected pancreatic cancer patients although the rates are significantly higher amongst patients with Ashkenazi Jewish ancestry...
October 2016: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/27584945/genetic-ancestry-using-mitochondrial-dna-in-patients-with-triple-negative-breast-cancer-gamit-study
#8
Roshni Rao, Aeisha Rivers, Asal Rahimi, Rachel Wooldridge, Madhu Rao, Marilyn Leitch, David Euhus, Barbara B Haley
BACKGROUND: Triple-negative breast cancer (TNBC) lacks estrogen, progesterone, and human epidermal growth factor receptor 2 (HER2)/neu receptors, and is aggressive and therapeutically challenging. Genetic ancestry testing is an emerging medical field. Mitochondrial DNA (mtDNA), which is distinct from nuclear DNA, is maternally inherited and allows for origin determination. Patients with TNBC tend to be younger and are more likely to be African American, making this an ideal disease for mtDNA exploration...
January 1, 2017: Cancer
https://www.readbyqxmd.com/read/27271295/extensive-sequencing-of-seven-human-genomes-to-characterize-benchmark-reference-materials
#9
COMMENT
Justin M Zook, David Catoe, Jennifer McDaniel, Lindsay Vang, Noah Spies, Arend Sidow, Ziming Weng, Yuling Liu, Christopher E Mason, Noah Alexander, Elizabeth Henaff, Alexa B R McIntyre, Dhruva Chandramohan, Feng Chen, Erich Jaeger, Ali Moshrefi, Khoa Pham, William Stedman, Tiffany Liang, Michael Saghbini, Zeljko Dzakula, Alex Hastie, Han Cao, Gintaras Deikus, Eric Schadt, Robert Sebra, Ali Bashir, Rebecca M Truty, Christopher C Chang, Natali Gulbahce, Keyan Zhao, Srinka Ghosh, Fiona Hyland, Yutao Fu, Mark Chaisson, Chunlin Xiao, Jonathan Trow, Stephen T Sherry, Alexander W Zaranek, Madeleine Ball, Jason Bobe, Preston Estep, George M Church, Patrick Marks, Sofia Kyriazopoulou-Panagiotopoulou, Grace X Y Zheng, Michael Schnall-Levin, Heather S Ordonez, Patrice A Mudivarti, Kristina Giorda, Ying Sheng, Karoline Bjarnesdatter Rypdal, Marc Salit
The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a large, diverse set of sequencing data for seven human genomes; five are current or candidate NIST Reference Materials. The pilot genome, NA12878, has been released as NIST RM 8398. We also describe data from two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry...
June 7, 2016: Scientific Data
https://www.readbyqxmd.com/read/27159729/genetic-analysis-of-mitochondrial-dna-control-region-variations-in-four-tribes-of-khyber-pakhtunkhwa-pakistan
#10
Shahzad Bhatti, M Aslamkhan, Sana Abbas, Marcella Attimonelli, Hikmet Hakan Aydin, Erica Martinha Silva de Souza
Due to its geo strategic position at the crossroad of Asia, Pakistan has gained crucial importance of playing its pivotal role in subsequent human migratory events, both prehistoric and historic. This human movement became possible through an ancient overland network of trails called "The Silk Route" linking Asia Minor, Middle East China, Central Asia and Southeast Asia. This study was conducted to analyze complete mitochondrial control region samples of 100 individuals of four major Pashtun tribes namely, Bangash, Khattak, Mahsuds and Orakzai in the province of Khyber Pakhtunkhwa, Pakistan...
September 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/27109188/increased-expression-of-apoe-and-protection-from-amyloid-beta-toxicity-in-transmitochondrial-cybrids-with-haplogroup-k-mtdna
#11
Kunal Thaker, Marilyn Chwa, Shari R Atilano, Pinar Coskun, Javier Cáceres-Del-Carpio, Nitin Udar, David S Boyer, S Michal Jazwinski, Michael V Miceli, Anthony B Nesburn, Baruch D Kuppermann, M Cristina Kenney
Mitochondrial (mt) DNA haplogroups, defined by specific single nucleotide polymorphism (SNP) patterns, represent populations of diverse geographic origins and have been associated with increased risk or protection of many diseases. The H haplogroup is the most common European haplogroup while the K haplogroup is highly associated with the Ashkenazi Jewish population. Transmitochondrial cybrids (cell lines with identical nuclei, but mtDNA from either H (n=8) or K (n=8) subjects) were analyzed by the Seahorse flux analyzer, quantitative polymerase chain reaction (Q-PCR) and immunohistochemistry (IHC)...
September 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27068265/high-frequency-of-cyp2d6-ultrarapid-metabolizer-genotypes-in-an-ashkenazi-jewish-population-from-argentina
#12
G Moya, P Dorado, V Ferreiro, M E G Naranjo, E M Peñas-Lledó, A LLerena
A twofold higher frequency of CYP2D6 ultrarapid metabolizers (estimated from genotype: gUMs) was reported among Ashkenazi Jews (AJ) living in New York (USA) than in other North American Caucasians, which might be important to guide the prescription for CYP2D6 substrates in AJ communities around the world. This study was aimed to determine whether the high frequency of CYP2D6 gUMs described in AJ from USA was replicated in AJ from Argentina when compared with other multiethnic admixture Argentines (GA). The frequency of the most common allelic variants and of CYP2D6 gUMs (>2 active genes) and poor metabolizers (0 active genes, gPMs) was also compared among the studied Argentine populations...
April 12, 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27049564/increased-occurrence-of-anti-aqp4-seropositivity-and-unique-hla-class-ii-associations-with-neuromyelitis-optica-nmo-among-muslim-arabs-in-israel
#13
Livnat Brill, Micha Mandel, Dimitrios Karussis, Panayiota Petrou, Keren Miller, Tamir Ben-Hur, Arnon Karni, Ora Paltiel, Shoshana Israel, Adi Vaknin-Dembinsky
BACKGROUND: Previous studies have revealed different human leukocyte antigen (HLA) associations in multiple sclerosis (MS) and neuromyelitis optica (NMO), further discriminating these two demyelinating pathological conditions. In worldwide analyses, NMO and opticospinal MS are represented at higher proportions among demyelinating conditions in African, East-Asian and Latin American populations. There are currently no data regarding the prevalence of NMO in Middle East Muslims. The population in Israel is diverse in many ways, and includes subpopulations, based on religion and ethnicity; some exhibit genetic homogeneity...
April 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/26976419/frequency-of-germline-mutations-in-25-cancer-susceptibility-genes-in-a-sequential-series-of-patients-with-breast-cancer
#14
Nadine Tung, Nancy U Lin, John Kidd, Brian A Allen, Nanda Singh, Richard J Wenstrup, Anne-Renee Hartman, Eric P Winer, Judy E Garber
PURPOSE: Testing for germline mutations in BRCA1/2 is standard for select patients with breast cancer to guide clinical management. Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. The frequency of germline mutations detected by using NGS has been reported in patients with breast cancer who were referred for BRCA1/2 testing or with triple-negative breast cancer. We assessed the frequency and predictors of mutations in 25 cancer predisposition genes, including BRCA1/2, in a sequential series of patients with breast cancer at an academic institution to examine the utility of genetic testing in this population...
May 1, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/26733283/post-mortem-testing-germline-brca1-2-variant-detection-using-archival-ffpe-non-tumor-tissue-a-new-paradigm-in-genetic-counseling
#15
Annabeth Høgh Petersen, Mads Malik Aagaard, Henriette Roed Nielsen, Karina Dahl Steffensen, Marianne Waldstrøm, Anders Bojesen
Accurate estimation of cancer risk in HBOC families often requires BRCA1/2 testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutations. A high-throughput method to systematically test for variants in all coding regions of BRCA1/2 in archival FFPE samples of non-tumor tissue is described, using HaloPlex target enrichment and next-generation sequencing...
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26543556/addressing-health-disparities-in-hispanic-breast-cancer-accurate-and-inexpensive-sequencing-of-brca1-and-brca2
#16
Michael Dean, Joseph Boland, Meredith Yeager, Kate M Im, Lisa Garland, Maria Rodriguez-Herrera, Mylen Perez, Jason Mitchell, David Roberson, Kristine Jones, Hyo Jung Lee, Rebecca Eggebeen, Julie Sawitzke, Sara Bass, Xijun Zhang, Vivian Robles, Celia Hollis, Claudia Barajas, Edna Rath, Candy Arentz, Jose A Figueroa, Diane D Nguyen, Zeina Nahleh
BACKGROUND: Germline mutations in the BRCA1 and BRCA2 genes account for 20-25 % of inherited breast cancers and about 10 % of all breast cancer cases. Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorectomy, hormonal prevention therapy, improved screening, and targeted therapies such as PARP-inhibition. We estimate that African Americans and Hispanics are 4-5 times less likely to receive BRCA screening, despite having similar mutation frequencies as non-Jewish Caucasians, who have higher breast cancer mortality...
2015: GigaScience
https://www.readbyqxmd.com/read/26426075/proof-of-principle-rapid-noninvasive-prenatal-diagnosis-of-autosomal-recessive-founder-mutations
#17
David A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, Fouad Zahdeh, Tama Dinur, Gaya Chicco, Yair Herskovitz, Paul Renbaum, Deborah Elstein, Ephrat Levy-Lahad, Arndt Rolfs, Ari Zimran
BACKGROUND: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic...
October 1, 2015: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/26247052/a-rigorous-approach-for-selection-of-optimal-variant-sets-for-carrier-screening-with-demonstration-of-clinical-utility
#18
Cynthia Perreault-Micale, Jocelyn Davie, Benjamin Breton, Stephanie Hallam, Valerie Greger
Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasingly intermixed, this approach is becoming inadequate. Our objective was to develop a rigorous process to curate all variants, for relevant genes, into a database and then apply stringent clinical validity classification criteria to each in order to retain only those with clear evidence for pathogenicity...
July 2015: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/25986072/rare-genetic-variants-in-tunisian-jewish-patients-suffering-from-age-related-macular-degeneration
#19
Eran Pras, Dana Kristal, Nadav Shoshany, Dina Volodarsky, Inna Vulih, Gershon Celniker, Ofer Isakov, Noam Shomron, Elon Pras
PURPOSE: To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). METHODS: We performed WES on four patients (two sibs from two families) manifesting early-onset AMD and searched for disease-causing genetic variants in previously identified macular degeneration related genes. Validation studies of the variants included bioinformatics tools, segregation analysis of mutations within the families and mutation screening in an AMD cohort of patients...
July 2015: Journal of Medical Genetics
https://www.readbyqxmd.com/read/25966635/genetics-of-gne-myopathy-in-the-non-jewish-persian-population
#20
Alireza Haghighi, Shahriar Nafissi, Abrar Qurashi, Zheng Tan, Hosein Shamshiri, Yalda Nilipour, Amirreza Haghighi, Robert J Desnick, Ruth Kornreich
GNE myopathy is an autosomal recessive adult-onset disorder characterized by progressive muscle atrophy and weakness, initially involving the distal muscles, while often sparing the quadriceps. It is caused by variants in the GNE gene that encodes a key bifunctional enzyme in the sialic acid biosynthetic pathway. We investigated the clinical and molecular characteristics of 18 non-Jewish Persian patients from 11 unrelated GNE myopathy families. In addition, we reviewed the previously reported cases and suggest genotype-phenotype correlations for the identified variants...
February 2016: European Journal of Human Genetics: EJHG
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