Search Results - "Bernstein, Rinat Molho"
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Targeted genotyping for recurring variants in cancer susceptibility genes in non‐Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years
Published in Cancer (15-08-2024)“…Purpose Several recurring pathogenic variants (PVs) in BRCA1/BRCA2 and additional cancer susceptibility genes are described in the ethnically diverse Israeli…”
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Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population
Published in Cancer (01-10-2021)“…Background Several recurring pathogenic variants in BRCA1/BRCA2 and other cancer susceptibility genes are encountered in ethnically diverse Jewish populations…”
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The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants
Published in Cancer (01-01-2024)“…Background Surveillance of high‐risk individuals for pancreatic ductal adenocarcinoma (PDAC) is recommended. This study aimed to determine the prevalence and…”
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The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
Published in Human mutation (01-11-2019)“…BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history and cultural practices…”
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Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers
Published in Cancer (01-03-2019)“…Background BRCA1/2 mutation carriers have an increased risk of developing ovarian cancer, leading to the recommendation of risk‐reducing salpingo‐oophorectomy…”
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Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant
Published in Human mutation (01-05-2021)“…BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1‐TPDS) associated with an increased lifetime risk for…”
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Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations
Published in Breast cancer research and treatment (01-02-2021)“…Purpose The co-occurrence or double heterozygosity of pathogenic/likely pathogenic sequence variants (P/LPSVs) in major cancer susceptibility genes has rarely…”
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Time trends in uptake rates of risk-reducing mastectomy in Israeli asymptomatic BRCA1 and BRCA2 mutation carriers
Published in Breast cancer research and treatment (2021)“…Background The rate of risk-reducing bilateral mastectomy (RRBM) among cancer-free Israeli female BRCA1/BRCA2 mutation carriers was reportedly 13% in 2010…”
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De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer
Published in Familial cancer (01-04-2020)“…De novo mutations in the major breast/ovarian cancer susceptibility genes BRCA1 and BRCA2 are rare. De novo mutations in the PALB2 gene have never been…”
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Breast cancer surveillance for BRCA1/2 mutation carriers – is “early detection” early enough?
Published in Breast (Edinburgh) (01-02-2020)“…Annual MRI screening is associated with a significant reduction in advanced-stage breast cancer diagnosis in BRCA1/2 mutation carriers. The impact that early…”
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Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
Published in Breast cancer research and treatment (01-06-2020)“…Background Carriers of pathogenic variants (PVs) in moderate–high-penetrance cancer susceptibility genes are offered tailored surveillance schemes for early…”
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The complexity of management of pregnancy-associated malignant soft tissue and bone tumors
Published in Gynecologic and obstetric investigation (01-01-2008)“…The incidence of musculoskeletal tumors during pregnancy is very low. The aim of this study was to summarize our experience in treating a large cohort of…”
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Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors
Published in Familial cancer (01-07-2021)“…Germline pathogenic sequence variants (PSVs) in BRCA1 substantially increase risk for developing breast (BC) and ovarian cancer (OvC). Yet, incomplete…”
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14
Cranial irradiation in childhood mimicking neurofibromatosis type II
Published in American journal of medical genetics. Part A (01-06-2017)“…Neurofibromatosis type II (NF2) is a genetic disease characterized by bilateral vestibular schwannomas (VS) and other nerve system tumors. However, such tumors…”
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3345: Hereditary cancer syndromes and genetic susceptibility affecting radiation decisions
Published in Radiotherapy and oncology (01-05-2024)Get full text
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Combined weekly carboplatin and paclitaxel as primary treatment of advanced epithelial ovarian carcinoma
Published in Gynecologic oncology (01-08-2009)“…Abstract Objective To evaluate safety and outcome of weekly carboplatin and paclitaxel as the initial postoperative adjuvant chemotherapy for epithelial…”
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Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in BRCA1/BRCA2
Published in Cancers (22-09-2022)“…Females harboring germline BRCA1/BRCA2 (BRCA) P/LPV are offered a tight surveillance scheme from the age of 25−30 years, aimed at early detection of specific…”
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Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in IBRCA1/BRCA2/I
Published in Cancers (01-09-2022)“…Female carriers of germline pathogenic/likely pathogenic variants (P/LPVs) in the BRCA1/BRCA2 (BRCA) genes are at a substantially increased lifetime risk for…”
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Genetic testing in patients with triple-negative or hereditary breast cancer
Published in Current opinion in oncology (01-11-2021)“…PURPOSE OF REVIEWIn recent years there has been a dramatic evolution in the clinical utility of genetic testing with expanding therapeutic implications for…”
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Loss of Function RET Gene Variant and Cancer: Co-occurrence or an Association?
Published in The Israel Medical Association journal (01-06-2023)Get full text
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