Inbal Kedar
Rabin Medical Center
MLH1Mutation (genetic algorithm)CancerInternal medicineGermline mutationOncologyProstateLynch syndromeMSH6MSH2Microsatellite instabilityProstate cancerBRCA mutationGenetic testingPopulationAshkenazi jewsIncidence (epidemiology)Colorectal cancerBreast cancerGeneticsDNA mismatch repairMedicineCohortGenetic counseling
Publications 24
#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 ...
#1Ido Laish (Sheba Medical Center)H-Index: 1
#1Ido Laish (TAU: Tel Aviv University)H-Index: 7
Last. Yael Goldberg (Rabin Medical Center)H-Index: 17
view all 11 authors...
BACKGROUND Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), the most common inherited cancer syndromes, are attributed to a single heterozygous pathogenic variant (PV) in BRCA1/2 or in a DNA MMR gene, respectively. Little is known about the phenotype in double heterozygotes who carry PVs in both genes. METHODS Carriers of double-PVs in any DNA MMR gene and BRCA1/2 attending one of three tertiary oncogenetic clinics between 1/2005 and 1/2020 were identified by databas...
#1Inbal Kedar (Rabin Medical Center)H-Index: 8
#2L Walsh (UW: University of Washington)
Last. Yael Goldberg (Rabin Medical Center)H-Index: 17
view all 23 authors...
Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews. The deletion, which encompasses exon 9-10 of the MSH2 coding sequence, is associated mainly with early-onset MSH2/MSH6-deficient colorectal cance...
1 CitationsSource
#1N. Segal (Rabin Medical Center)H-Index: 1
#2Yaara Ber (Rabin Medical Center)H-Index: 4
Last. David Margel (TAU: Tel Aviv University)H-Index: 8
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Background Male-carriers of BRCA1/2 gene mutations have an increased risk of prostate cancer (PCa) with a more aggressive phenotype. Current screening-guidelines suggest the use of prostate-specific antigen (PSA) only among BRCA2 carriers. Female carriers have extensive guidelines that include imaging. Our objective was to test the prevalence of PCa among BRCA carriers and examine screening strategies, using PSA and multiparametric magnetic resonance imaging (mpMRI). Patients and methods We recr...
4 CitationsSource
#1David Margel (Rabin Medical Center)H-Index: 24
#1David MargelH-Index: 8
Last. Eli RosenbaumH-Index: 14
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#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
#1Sari LiebermanH-Index: 8
#2Rachel Beeri (Shaare Zedek Medical Center)H-Index: 15
Last. Yael GoldbergH-Index: 17
view all 21 authors...
Juvenile polyposis syndrome (JPS, OMIM 174900) is a rare autosomal dominant disorder, affecting between 1 in 100,000 and 1 in 160,000 (1), characterized by hamartomatous polyps and increased risk of gastrointestinal (GI) cancer. JPS is diagnosed clinically when a person has any one of the following: (i) more than 5 juvenile polyps of the colon or rectum; (ii) juvenile polyps in other parts of the GI tract; or (iii) any number of juvenile polyps and one or more affected family members (National C...
2 CitationsSource
#1Manon Suerink (LEI: Leiden University)H-Index: 4
#1Manon Suerink (LEI: Leiden University)H-Index: 6
Last. Maartje Nielsen (LEI: Leiden University)H-Index: 28
view all 39 authors...
Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias. Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-ass...
4 CitationsSource
#1David MargelH-Index: 24
#2Sivan SelaH-Index: 4
Last. Jack BanielH-Index: 41
view all 8 authors...
INTRODUCTION AND OBJECTIVES:Male BRCA germline mutation carriers are at high risk for prostate cancer. IMPACT study results support routine PSA screening among BRCA carriers. Guidelines for female BRCA carriers include breast MRI as part of routine cancer screening. In this study we examine the use of MRI as a screening tool for prostate cancer among male BRCA carriers.METHODS:We prospectively enrolled 185 male BRCA carriers age 40-70, between April 2014-July 2018. We performed the following scr...