A5091379071- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Prenatal Screening and Diagnostics
- Ovarian cancer diagnosis and treatment
- Breast Cancer Treatment Studies
- Chronic Lymphocytic Leukemia Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Nutrition, Genetics, and Disease
- Acute Lymphoblastic Leukemia research
- CRISPR and Genetic Engineering
- Genetic factors in colorectal cancer
- Cancer Risks and Factors
- Chromosomal and Genetic Variations
- Sarcoma Diagnosis and Treatment
- Cancer Treatment and Pharmacology
- PARP inhibition in cancer therapy
- Bone Tumor Diagnosis and Treatments
- Reproductive Biology and Fertility
- Congenital Anomalies and Fetal Surgery
- Sexual Differentiation and Disorders
- Endometrial and Cervical Cancer Treatments
Tel Aviv University
2012-2025
Sheba Medical Center
2017-2025
Arthur M. Sackler Gallery
2023
Tel Aviv Sourasky Medical Center
2007-2012
Northwestern University
2004
Technion – Israel Institute of Technology
2004
South African Institute for Medical Research
1980-1995
University of the Witwatersrand
1979-1995
University of California, Irvine
1993
University of California, Irvine Medical Center
1990
Purpose Invasive lobular breast cancer (ILC) may be hard to detect using conventional imaging modalities and usually shows less avidity 18 F-FDG PET/CT. 68 Ga–fibroblast activation protein inhibitor (FAPI) PET/CT has shown promising results in detecting non– F-FDG–avid cancers. We aimed assess the feasibility of metastatic disease patients with ILC. Methods This prospective study included ILC, infiltrative soft tissues, which was not avid. The underwent Ga-FAPI for evaluation, correlated...
Importance Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy survivors included limited data BRCA carriers. Objective To investigate cumulative incidence disease-free survival young are Design, Setting, Participants International, multicenter, hospital-based, retrospective cohort study conducted at 78 participating centers worldwide. The...
Abstract Background Breast cancer (BC) in women aged ≤40 years carrying germline pathogenetic variants (PVs) BRCA1/2 genes is infrequent but often associated with aggressive features. Human epidermal growth factor receptor 2 (HER2)‐low‐expressing BC has recently emerged as a novel therapeutic target not been characterized this rare patient subset. Methods Women newly diagnosed early‐stage HER2‐negative (HER2‐0 and HER2‐low) PVs from 78 health care centers worldwide were retrospectively...
A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal studies in later pregnancy indicated same chromosomal abnormality fetus. The fetus proband normal genitalia ovarian tissue. H--Y antigen virtually absent both sibs, finding consistent view that testis-determining genes of may be suppressed by regulatory elements X. present mother, maternal...
Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its impact prognosis of young patients harboring pathogenic variant (PV) the BRCA1 and/or BRCA2 genes.
S ummary . Four patients representing a spectrum of haematological malignancies are reported. Two had Philadelphia chromosome negative myeloproliferative disorders, one acute lymphoblastic leukaemia and eosinophilic leukaemia. In each case eosinophilia was present demonstrated to be part the malignancy by association clonally abnormal metaphases with eosinophil granules. Abnormalities involving short arm 12 (12p 13) were constant feature in all four cases therefore nonrandom between this...
Background: Neoadjuvant systemic therapy is the preferred treatment approach for stage II–III HER2-positive breast cancer (BC). Real-life data comparing regimens with or without anthracyclines combined two HER2 drugs lacking. We compared efficacy and toxicity of commonly used regimens. Methods: Retrospective were collected on patients newly diagnosed clinical BC treated at Sheba Medical Center, Israel, between September 2017 June 2022 either neoadjuvant DCbHP (docetaxel, carboplatin,...
Our previous study on BRCA breast cancer carriers disclosed a high local recurrence (LR) rate in patients who underwent skin sparing (SSM) or nipple mastectomy (NSM) without postoperative radiation therapy (RT), compared to conservation surgery with RT. The current compares the LR rates versus non after SSM/NSM relation receipt of was approved by institutional ethics committee. Data collected included patient- (e.g., age), tumour- subtype, stage), and treatment-related factors outcomes....
PURPOSE To investigate the clinical behavior of breast cancer in young BRCA carriers according to specific gene ( BRCA1 v BRCA2 ) and association timing genetic testing (before at diagnosis) with prognosis. METHODS This was an international, multicenter, hospital-based, retrospective cohort study that included 4,752 patients harboring germline pathogenic/likely pathogenic variants (PVs) or , who were diagnosed stage I-III invasive 40 years younger between January 2000 December 2020 78...
Our previous data showed that carriers of germline BRCA1/2 pathogenic variants (PV) with breast cancer (BC) treated mastectomy without post-mastectomy radiation therapy (PMRT) had higher rates loco-regional recurrence (LRR) compared to those who underwent PMRT or breast-conserving (BCT), despite earlier stage BC. aim was verify our findings in a larger cohort. Clinical were extracted from the medical records mutation BC, at single institution between 1/2006 and12/2022. The included...
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history cultural practices characterizing these regions, often involving consanguinity inbreeding, plausibly led to accumulation of population-specific founder pathogenic sequence variants (PSVs). To determine recurring BRCA PSVs locales, a search PUBMED, EMBASE, BIC, CIMBA was carried out combined with outreach researchers from relevant countries for unpublished data....
68 Ga-fibroblast activation protein inhibitor (FAPI), a new PET/CT radiotracer targeting cancer-associated fibroblasts in tumor microenvironment, can detect many types of cancer. We aimed to assess whether it also be used for response assessment and follow-up.We followed up patients with FAPI-avid invasive lobular breast cancer (ILC) before after treatment changes correlated qualitative maximal intensity projection images quantitative volume CT results blood biomarkers.Six consenting ILC (53...
Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four and most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences external systemic abnormalities noted. The considerable overlap supposedly distinctive displayed by the main forms is suggestive a single locus mutation variable expressivity, particularly for types I III, possibly related to different mutant alleles...
A pericentric inversion of a human X chromosome and recombinant [rec(X)] derived from crossing-over within the was identified in family. The rec(X) had duplication segment Xq26.3----Xqter deletion Xp22.3----Xpter interpreted to be Xqter----Xq26.3::Xp22.3----Xqter. To characterize chromosome, dosage blots were done on genomic DNA carriers this rearranged using number probes. Results showed that anonymous sequences distal end long arm which probes 4D8, Hx120A, DX13, St14 bind as well locus for...