15 results on '"Yael Goldberg"'
Search Results
2. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants
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Gili Reznick Levi, Yael Goldberg, Hanna Segev, Itay Maza, Yuri Gorelik, Ido Laish, Zohar Levi, Inbal Kedar, Sonia Naftali Nathan, Nitzan Sharon Swartzman, Naim Abu Freha, Maya Paritsky, Gad Rennert, Hagit Baris Feldman, Tamar Paperna, Karin Weiss, and Elizabeth E. Half
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Hepatology ,Gastroenterology - Published
- 2023
3. Molecular functions of MCM8 and MCM9 and their associated pathologies
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Noah Cornelis Helderman, Diantha Terlouw, Laia Bonjoch, Mariano Golubicki, Marina Antelo, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, and Maartje Nielsen
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Multidisciplinary - Published
- 2023
4. When phenotype does not match genotype: importance of 'real-time' refining of phenotypic information for exome data interpretation
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Yael Goldberg, Noa Ruhrman-Shahar, Rivka Sukenik-Halevy, Noy Azulay, Idit Maya, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Lina Basel-Salmon, Ofir Hagari, Nurit Magal, Lily Bazak, Naama Orenstein, and Gabriel Arie Lidzbarsky
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Proband ,Genetics ,medicine.diagnostic_test ,Cosegregation ,Genetic counseling ,Genotype ,medicine ,Biology ,Phenotype ,Exome ,Genetics (clinical) ,Exome sequencing ,Genetic testing - Abstract
PURPOSE Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation. METHODS Of 614 exomes, 209 were diagnostic and included in this study. Phenotypic information was gathered by the variant interpretation team from genetic counseling letters and images. If a discrepancy between reported clinical findings and presumably disease-causing variant segregation was observed, referring clinicians were contacted for phenotypic clarification. RESULTS In 16/209 (7.7%) cases, phenotypic refinement was important due to (1) lack of cosegregation of disease-causing variant with the reported phenotype; (2) identification of different disorders with overlapping symptoms in the same family; (3) similar features in proband and family members, but molecular cause identified in proband only; and (4) previously unrecognized maternal condition causative of child's phenotype. As a result of phenotypic clarification, in 12/16 (75%) cases definition of affected versus unaffected status in one of the family members has changed, and in one case variant classification has changed. CONCLUSION Detailed description of phenotypes in family members including differences in clinical presentations, even if subtle, are important in exome interpretation and should be communicated to the variant interpretation team.
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- 2021
5. Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
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Naama Oresntein, Arie Koifman, Efrat Sofrin-Drucker, Adi Reches, Noa Rhurman-Shahar, Gal Zaks-Hoffer, Nurit Magal, Doron M. Behar, Yael Goldberg, Daphna Marom, Mordechai Shohat, Lina Basel-Salmon, Noa Shefer Averbuch, Lily Bazak, Reut Matar, Sagi Josefberg, Nesia Kropach-Gilad, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Avi Fellner, Liat Salzer-Sheelo, Monika Weiss-Hubshmann, and Idit Maya
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medicine.medical_specialty ,business.industry ,media_common.quotation_subject ,Tertiary care ,Literacy ,Clinical Practice ,Knowledge change ,Family medicine ,Program completion ,Medicine ,Genomic medicine ,business ,Genetics (clinical) ,media_common - Abstract
Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model. We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises. Pre- and post questionnaires assessed knowledge change, using t-tests to compare groups. Satisfaction on program completion and after 3 years were evaluated. Implementation in other centers determined acceptability. During 2012–2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p
- Published
- 2020
6. Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program
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Sara Morgenstern, Raanan Shamir, Offer Ben-Bassat, Hannah Tamary, Nadav Sahar, Iris Dotan, Tanya Krasnov, Joannae Yacobovich, David Itskoviz, Noam Zevit, Yael Goldberg, Ram Dickman, Zohar Levi, Yaara Leibovici Wiseman, and Yehuda Ringel
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Adult ,Male ,medicine.medical_specialty ,Time Factors ,Esophageal Neoplasms ,Malignancy ,Gastroenterology ,Endoscopy, Gastrointestinal ,Risk Factors ,Internal medicine ,Prevalence ,medicine ,Carcinoma ,Humans ,Israel ,Reflux esophagitis ,Esophagus ,Esophagitis, Peptic ,Papillomaviridae ,Retrospective Studies ,Hepatology ,business.industry ,Incidence ,Incidence (epidemiology) ,Papillomavirus Infections ,Bone marrow failure ,Cancer ,Esophageal cancer ,medicine.disease ,Fanconi Anemia ,medicine.anatomical_structure ,Female ,business - Abstract
Background and aims The primary clinical characteristics of Fanconi Anemia (FA) include typical physical features, progressive bone marrow failure, and an increased incidence of neoplasms, including esophageal carcinoma. Currently, there are no data regarding endoscopic findings or the interval time to malignancy in these patients. Data about the contribution of Human Papilloma Virus (HPV) to esophageal carcinoma is conflicting. Our objective is to document the upper gastrointestinal (GI) findings at baseline, document cancer incidence, and evaluate the role of HPV among these cancers. Methods We reviewed endoscopic and clinical data of FA subjects who participated in active surveillance before cancer diagnosis. Incident esophageal cancers were stained for HPV p16 protein. Results Eight FA patients were included (men 62.5%; median age at first endoscopy 20 years, median endoscopies number: 5.5). At baseline, 8/8 had endoscopic evidence for reflux esophagitis. In 3/8 the reflux esophagitis was mild and in 5/8 it was moderate or severe. During the follow up time (median time 4.5 years 2/8 developed Barrett’s esophagus and 2/8 patients had incident esophageal squamous cell carcinoma during follow up, at intervals of eight and eighteen months from the previous upper endoscopy. Both cancers stained negative for HPV P16. Conclusions FA subjects have both an extremely high risk for esophageal cancer within short intervals and a very high prevalence of reflux esophagitis with various severities. Active surveillance programs in specialized centers including annual upper endoscopies should be considered in these patients.
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- 2019
7. 1351P The impact of BRCA mutation status on NSCLC disease course and response to therapy
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Alona Zer, S. Laufer-Geva, Elizabeth Dudnik, N. Peled, Yael Goldberg, Ofer Rotem, and R. Tschernichovsky
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Oncology ,medicine.medical_specialty ,Response to therapy ,business.industry ,Internal medicine ,BRCA mutation ,medicine ,Hematology ,business ,Disease course - Published
- 2020
8. Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
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Yael Goldberg, Morasha Plesser-Duvdevani, Naama Halpern, Vardiella Meiner, Ayala Hubert, Samuel N. Adler, Sherri Cohen, Orit Pappo, and Avraham Shaag
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Adult ,Cancer Research ,Colorectal cancer ,Adenomatous polyposis coli ,Primary Ovarian Insufficiency ,Biology ,medicine.disease_cause ,DNA sequencing ,Consanguinity ,Hypergonadotropic hypogonadism ,Chromosomal Instability ,Chromosome instability ,Genetics ,medicine ,Humans ,Molecular Biology ,Exome sequencing ,Mutation ,Minichromosome Maintenance Proteins ,medicine.disease ,Disease gene identification ,Pedigree ,Adenomatous Polyposis Coli ,biology.protein ,Female ,Colorectal Neoplasms - Abstract
Mutations in MCM9, which encodes DNA helicase, were recently shown to cause a clinical phenotype of primary ovarian failure and chromosomal instability. MCM9 plays an essential role in homologous recombination-mediated double-strand break repair. We describe a multiplex family with early colorectal carcinoma and mixed polyposis associated with primary hypergonadotropic hypogonadism. A combination of whole genome homozygosity mapping as well as exome sequencing and targeted gene sequencing identified a homozygous c.672_673delGGinsC mutation that predicts a truncated protein, p.Glu225Lysfs*4. Our data expand the phenotypic spectrum of MCM9 mutations and suggest a link between MCM9 and inherited predisposition to mixed polyposis and early-onset colorectal cancer.
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- 2015
9. Prolonged overall survival of metastatic gastric cancer patients with BRCA germline mutations
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Zohar Levi, Irit Ben-Aharon, Ayala Hubert, E. Friedman, Dan Aderka, Albert Grinshpun, Ofer Margalit, Yael Goldberg, Tamar Hamburger, Inbal Kedar-Barnes, Naama Halpern, Tamar Peretz, Einat Shacham-Shmueli, Y. Laitman, Ben Boursi, and Talia Golan
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0301 basic medicine ,business.industry ,Hematology ,Metastatic gastric cancer ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Germline mutation ,Oncology ,030220 oncology & carcinogenesis ,Cancer research ,Overall survival ,Medicine ,business - Published
- 2018
10. An Unusual Uterine Cavity Phenomenon
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Eran Meir Segev, Yael Goldberg, and Ofer Lavie
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Pathology ,medicine.medical_specialty ,Text mining ,medicine.anatomical_structure ,business.industry ,MEDLINE ,medicine ,Obstetrics and Gynecology ,Uterine cavity ,business - Published
- 2015
11. Clinical and ultrasonographic weight estimation in large for gestational age fetus
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Yael Goldberg, Eliezer Shalev, Ronit Beck-Fruchter, Izhar Ben-Shlomo, and Zeev Weiner
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Shoulder ,medicine.medical_specialty ,Birth trauma ,Gestational Age ,Sensitivity and Specificity ,Ultrasonography, Prenatal ,Fetal Macrosomia ,Pregnancy ,Humans ,Medicine ,Prospective Studies ,Fetus ,Cesarean Section ,business.industry ,Obstetrics ,Ultrasound ,Pregnancy Outcome ,Follow up studies ,Obstetrics and Gynecology ,Gestational age ,Delivery, Obstetric ,medicine.disease ,Dystocia ,female genital diseases and pregnancy complications ,Fetal Weight ,Reproductive Medicine ,Weight estimation ,Gestation ,Female ,business - Abstract
To examine prospectively the effect on pregnancy outcome of a management protocol, that adds ultrasonographic weight estimation in fetuses suspected clinically as large.Prospective follow up study of all singleton deliveries during a 1 year period. All patients underwent routine clinical estimation of fetal weight. When clinical estimation of fetal weight wasor = 3700 g, patients were referred for ultrasonographic estimation of fetal weight. When the latter wasor = 4000 g the patient was informed about the risks of birth trauma. Cesarean section was recommended only whenor = 4500 g. Ultrasonography was repeated every 4 days when possible. Predictive values of clinical and ultrasonographic estimations of fetal weight for diagnosing macrosomia, defined for the purpose of this study as 4000 g or more, and their effect on the rate of cesarean sections.Five hundred fifty-five (14.4%) out of 3844 singletons were estimated as 3700 g or more. Only 315 fetuses had ultrasonographic estimation of weight within 3 days of delivery. The sensitivity of clinical and ultrasonographic prediction of macrosomia was 68 and 58%, respectively. Cesarean section rate in newborns weighing 4000 g or more was 22% when macrosomia was clinically suspected compared to 11% when it was not (P0.05). In fetuses estimated ultrasonographically as 4000 g or larger the cesarean section rate was doubled (50.7% versus 24.9%, P0.05) compared to those estimated as smaller than 4000 g, although actual weight of 4500 g or more was recorded in 10.6 and 8.5% of these groups, respectively. There were no cases of shoulder dystocia in macrosomic babies when macrosomia was not detected by ultrasound compared to two cases of shoulder dystocia (2.7%) when macrosomia was detected by ultrasound.Antenatal suspicion of macrosomia increased the cesarean section rate while the associated improvement in pregnancy outcome remains questionable. The contribution of ultrasound, added to routine clinical estimation of fetal weight, was clinically insignificant apart from a further increase in cesarean section rate.
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- 2002
12. Unique Features of Grem1 Related Hereditary Mixed Polyposis in Four Ashkenazi Families and Their Implications for Screening Recommendations
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Sari Lieberman, Tomer Adar, Ephrat Levy Lahad, Menachem Schechter, Yael Goldberg, and Eran Goldin
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Hepatology ,Gastroenterology - Published
- 2017
13. Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients
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Shai Rosenberg, Hanoch Goldshmidt, Hovav Nechushtan, Amir Sonnenblick, Mark Temper, Beatrice Uziely, David Edelman, Alexander Lossos, Yael Goldberg, Amichai Meirovitz, Ayala Hubert, Michal Lotem, Eli Pikarsky, Tamar Peretz, Eli Sapir, Iris Fried, Daniela Katz, Yakir Rottenberg, Ruth Finklstein, and Aviad Zick
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Adult ,Male ,Oncology ,medicine.medical_specialty ,Adolescent ,precision medicine ,Genetic counseling ,neoplasms ,Observational Study ,Disease ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Treatment plan ,Internal medicine ,medicine ,Humans ,Mutation detection ,Medical history ,030212 general & internal medicine ,Young adult ,Stage (cooking) ,Aged ,Aged, 80 and over ,Massive parallel sequencing ,business.industry ,High-Throughput Nucleotide Sequencing ,Cancer ,General Medicine ,DNA ,Hematology ,Middle Aged ,Precision medicine ,medicine.disease ,Treatment Outcome ,030220 oncology & carcinogenesis ,Mutation ,Retreatment ,Feasibility Studies ,Female ,business ,Research Article - Abstract
Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation. A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature. The team generated a treatment plan, targeting specific mutations, for 41 out of 64 cases. Three patients died before results were available. For 32 patients, the treating oncologists chose not to include the panel recommendation in the treatment plan for various reasons. Nine patients were treated as recommended by the panel, 5 with clinical benefit, and 4 with disease progression. This study suggests that routine use of massive parallel tumor sequencing is feasible and can judiciously affect treatment decisions when coupled with multidisciplinary team-based decision making. Administration of personalized based therapies at an earlier stage of disease, expansion of genetic alterations examined, and increased availability of targeted therapies may lead to further improvement in the clinical outcome of metastatic cancer patients.
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- 2016
14. Resistance to activated protein C and the Leiden mutation: High prevalence in patients with abruptio placentae
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Yael Goldberg, Eliezer Shalev, Izhar Ben-Shlomo, and Zofnat Wiener-Megnagi
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Adult ,medicine.medical_specialty ,Pregnancy Complications, Cardiovascular ,Thrombophilia ,Gastroenterology ,Pregnancy ,Internal medicine ,Prevalence ,medicine ,Factor V Leiden ,Humans ,Point Mutation ,Abruptio Placentae ,Activated Protein C Resistance ,business.industry ,Point mutation ,Factor V ,Obstetrics and Gynecology ,Odds ratio ,medicine.disease ,Case-Control Studies ,Mutation (genetic algorithm) ,Immunology ,Female ,Activated protein C resistance ,business ,Protein C ,medicine.drug - Abstract
Objective: The Leiden mutation, a point mutation in the gene encoding coagulation factor V, is associated with a high frequency of thromboembolic phenomena. It has recently been connected with adverse outcomes of pregnancy. We carried out this study to define its connection with abruptio placentae. Study Design: Twenty-seven women who had abruptio placentae and 29 control subjects matched for age, parity, and ethnic origin were studied. We studied all women for possible hypercoagulation defects. All women demonstrating resistance to activated protein C were studied for the presence of the factor V Leiden mutation. Results: Seventeen of 27 case patients had an activated protein C ratio ≤2.5, compared with 5 of 29 control subjects (odds ratio 8.16, 95% confidence interval 3.6-12.75, P = .00125). Participants with activated protein C ratios ≤2.5 underwent deoxyribonucleic acid analysis. Eight case patients were found to have the factor V Leiden mutation (5 heterozygous and 3 homozygous, 29.6%), compared with 1 heterozygote among the control subjects who were tested (3.4%). Conclusion: Factor V Leiden mutation was found quite frequently in patients with abruptio placentae. (Am J Obstet Gynecol 1998;179:1565-7.)
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- 1998
15. High Frequency of BRCA 1/2 Mutations Among Israeli Non Ashkenazi Breast Cancer Patients
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Michal Sagi, Luna Kaduri, T. Peretz-Yablonski, Tamar Hamburger, F. Elyan, Azzam Salah, D. Bercovich, Yael Goldberg, Ofra Maimon, and Israela Lerer
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Oncology ,medicine.medical_specialty ,endocrine system diseases ,business.industry ,Hematology ,Second primary cancer ,medicine.disease ,Ashkenazi jews ,Young age ,Breast cancer ,Internal medicine ,medicine ,Family history ,skin and connective tissue diseases ,business ,Ovarian cancer ,Pathological ,Founder mutation - Abstract
Background Inherited mutations in the breast cancer susceptibility genes (BRCA1 and BRCA2) are associated with a high risk of developing breast (BC) and ovarian cancers (OC) in females of different age and ethnic groups. The spectrum of mutations in these genes varies between populations, with some showing a high frequency of unique mutations. Ashkenazi Jews have a high rate of founder mutations in BRCA1/2, in some other Jewish communities in Israel (Jews who immigrated to Israel from Iraq, Iran and Yemen), other founder mutations had been identified. Still high proportions of Israeli BC cases with strong family history have none of the known mutations at the BRCA1/2 genes. Methods and patients Over 3000 breast cancer patients were evaluated in the oncogentic clinic during 1997-2011. One hundred thirty seven of them underwent full sequencing of the BRCA1/2 genes due to strong family history of breast and/or ovarian cancer or young age at presentation. Clinical and pathological characteristics of these patients were evaluated. Result Sixty seven percent were non Ashkenazi Jews, Mean age at BC onset was 44 (22-77). In 20 patient (15%) BRCA 1(N = 8) or 2 (N = 12) mutations were identified. Three of the carriers had bilateral BC and 5 had OC as second primary .17 were of non Ashkenazi origin. Ninety five percent of the carriers had first degree family history of breast or ovarian cancer. The pathological information was available in half of the carriers. All had high grade (2-3) tumor, 90% of them were HER2 negative and 60% ER positive. Age at presentation had no effect on BRCA1/2 status. BRCAPRO is a predictive model to assess BRCA status and has assessed in 9 carriers, in 6 of them, the probability was >80% and in one - 5%. Conclusions A full sequence of the BRCA1/2 genes was performed in a selected group pf BC patient, who were negative for the common founder mutation in Israel. Fifteen percent were found to carry other BRCA1/2 mutations. We recommend that, patients with the following clinical features: Sephardic origin, first degree family history of BC or OC, high grade tumor, HER-2 negative, should be offered full BRCA1/2 testing. The role of BRCAPRO and other predictive model should be further evaluated. Disclosure All authors have declared no conflicts of interest.
- Published
- 2012
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