Yael Goldberg
Rabin Medical Center
MLH1CancerInternal medicineGermline mutationOncologyLynch syndromeMSH6PMS2MSH2Microsatellite instabilityPopulationMISMATCH REPAIR DEFICIENCYAshkenazi jewsColorectal cancerBreast cancerGeneticsDNA mismatch repairMedicineGenetic counselingBiology
Publications 59
#1Yael Laitman (Sheba Medical Center)H-Index: 27
#2Rachel Michaelson-Cohen (Shaare Zedek Medical Center)H-Index: 9
Last. Eitan Friedman (TAU: Tel Aviv University)H-Index: 85
view all 13 authors...
Germline pathogenic sequence variants (PSVs) in BRCA1 substantially increase risk for developing breast (BC) and ovarian cancer (OvC). Yet, incomplete penetrance suggests that modifier factors affect phenotypic expression of mutant BRCA1 alleles. Analysis of identical BRCA1 PSV carriers of diverse ethnicities may provide further evidence for modifier factors. Female carriers of the 185delAG BRCA1 PSV identified through high-risk clinics in Israel, and Manchester England from 1998-2018 were eligi...
#1Ido Laish (TAU: Tel Aviv University)H-Index: 7
#2Yael Goldberg (Rabin Medical Center)H-Index: 17
Last. Gili Levi-Reznick (Rambam Health Care Campus)
view all 11 authors...
Abstract null null Background null Routine screening for establishing Lynch syndrome (LS) in young individuals diagnosed with adenomas is not recommended due to its low yield, and limited sensitivity of the employment of immunohistochemistry for DNA mismatch-repair proteins on polyps. Hence we aimed to evaluate the yield of germline mutational analysis in diagnosis of LS in a young Israeli cohort with colorectal adenomatous polyps. null null null Methods null Data were retrospectively collected ...
#1Carol Durno (Mount Sinai Hospital)
#1Carol Durno (Mount Sinai Hospital)H-Index: 20
Last. Uri Tabori (U of T: University of Toronto)H-Index: 66
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PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant t...
#1Adi Wilf-Yarkoni (Rabin Medical Center)H-Index: 1
#1Adi Wilf-Yarkoni (Rabin Medical Center)
Last. Yael GoldbergH-Index: 17
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Objective To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship. Methods The clinical, laboratory, and genetic features of 8 homozygotes were collected. A model of the wolframin protein was constructed, and NMA was used to simulate the effect of the variant on protein thermodynamics. Results Mean age at Wolfram syndrome (WS)...
#1Manon Suerink (LEI: Leiden University)H-Index: 4
#1Manon Suerink (LEI: Leiden University)H-Index: 6
Last. Hans F. A. Vasen (LEI: Leiden University)H-Index: 116
view all 17 authors...
4 CitationsSource
#1Mariano GolubickiH-Index: 3
#2Laia Bonjoch (University of Barcelona)H-Index: 8
Last. Sergi Castellví-BelH-Index: 40
view all 21 authors...
Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM nor MLH1 somatic methylation. Biallelic somatic inactivation or cryptic germline MMR variants undetected during genetic testing have been proposed to be involved. Sixteen patients with early-onset LLS CRC wer...
5 CitationsSource
#1Tamar Paperna (Rambam Health Care Campus)H-Index: 6
#2Nitzan Sharon-Shwartzman (Rambam Health Care Campus)H-Index: 1
Last. Hagit Baris FeldmanH-Index: 7
view all 15 authors...
Background Chromosomal instability, as reflected by structural or copy-number changes, is a known cancer characteristic but are rarely observed in healthy tissue. Mutations in DNA repair genes disrupt the maintenance of DNA integrity and predispose to hereditary cancer syndromes. Objective To clinically characterise and genetically diagnose two reportedly unrelated patients with unique cancer syndromes, including multiorgan tumourogenesis (patient 1) and early-onset acute myeloid leukaemia (pati...
3 CitationsSource
#1Helen ToledanoH-Index: 15
#2Naama Orenstein (TAU: Tel Aviv University)H-Index: 10
Last. Yael Goldberg (Rabin Medical Center)H-Index: 17
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Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1 and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency (CMMRD) syndrome. In addition to a very high tumour risk, the CMMRD phenotype is often characterised by the presence of signs reminiscent of neurofibromatosis type 1. Although paediatric systemic lupus erythematosus (pSLE) has been reported so far in three patients with CMMRD, it has...
3 CitationsSource
#1Rinat Bernstein-Molho (TAU: Tel Aviv University)H-Index: 5
#1Rinat Bernstein-Molho (Sheba Medical Center)H-Index: 2
Last. Yael Goldberg (Rabin Medical Center)H-Index: 17
view all 26 authors...
BACKGROUND: Carriers of pathogenic variants (PVs) in moderate-high-penetrance cancer susceptibility genes are offered tailored surveillance schemes for early cancer diagnosis. The clinical implications of low-penetrance variant carriers are less clear. METHODS: Clinical and demographic data were retrieved for a cohort of Israeli individuals who underwent oncogenetic testing by the 30-gene cancer panel at Color Genomics laboratory, between 04/2013 and 12/2018. RESULTS: Of 758 genotyped individual...
1 CitationsSource