Eitan Friedman
A5031247002- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Neurotransmitter Receptor Influence on Behavior
- Neuroscience and Neuropharmacology Research
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Receptor Mechanisms and Signaling
- CRISPR and Genetic Engineering
- Neuroendocrine Tumor Research Advances
- Bipolar Disorder and Treatment
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Rare Diseases
- Colorectal Cancer Screening and Detection
- Cancer-related Molecular Pathways
- Neuroblastoma Research and Treatments
- Pancreatic and Hepatic Oncology Research
- Cancer Risks and Factors
- RNA modifications and cancer
- Neuroendocrine regulation and behavior
- Epigenetics and DNA Methylation
- Pituitary Gland Disorders and Treatments
Sheba Medical Center
2016-2025
Tel Aviv University
2016-2025
Assuta Medical Center
2022-2025
University of Pennsylvania
2006-2025
Rabin Medical Center
1999-2025
Rafael Advanced Defense Systems (Israel)
2025
Israel Ministry of Health
2021
Israel Medical Association
2020
Columbia University Irving Medical Center
1973-2019
Tel Aviv Sourasky Medical Center
1993-2019
The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained somatic mutation in affected tissues that results activation the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from patients with for presence activating mutations gene subunit G protein (Gsα) stimulates cAMP formation.
The purpose of this study was to estimate the extent protection offered against breast cancer by prophylactic oophorectomy in carriers BRCA1 or BRCA2 mutations and determine what risk reduction varies with age at oophorectomy, diagnosis, time elapsed since surgery.We analyzed 1,439 patients 1,866 matched controls derived from a registry carriers. We estimated odds ratios (ORs) for having had bilateral using conditional logistic regression, parity oral contraceptive use.A previous history...
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
The BRCA1/2 proteins are involved in regulation of cellular proliferation by DNA damage repair via homologous recombination. Therefore, mutation carriers with pancreatic cancer may have distinct biologic outcomes. Patients BRCA1/2-associated ductal adenocarcinoma (PDAC) diagnosed between January 1994 and December 2012 were identified from databases at three participating institutions. Clinical data collected. Disease-free survival overall (OS) analysed. Overall, 71 patients PDAC BRCA1...
Multiparity and the use of oral contraceptives reduce risk ovarian cancer, but their effects on this in women with a BRCA1 or BRCA2 mutation are unclear.
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
Several options for cancer prevention are available women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in mutations from 9 countries examine differences uptake according to country. Women mutation were contacted after receiving their genetic test result questioned regarding practices. Information was recorded mastectomy, oophorectomy, use of tamoxifen screening (MRI mammography). Two thousand six...
We compared the outcome of breast-conserving surgery and radiotherapy in BRCA1/2 mutation carriers with breast cancer versus that matched sporadic controls.A total 160 were 445 controls cancer. Primary end points rates in-breast tumor recurrence (IBTR) contralateral cancers (CBCs). Median follow-up was 7.9 years for 6.7 controls.There no significant difference IBTR overall between controls; 10- 15-year estimates 12% 24% 9% 17% controls, respectively (hazard ratio [HR], 1.37; P = .19)....
In the Ashkenazi Jewish (AJ) population of Israel, 11% breast cancer and 40% ovarian are due to three inherited founder mutations in predisposition genes BRCA1 BRCA2. For carriers these mutations, risk-reducing salpingo-oophorectomy significantly reduces morbidity mortality. Population screening for among AJ women may be justifiable if accurate estimates risk mutation can obtained. We therefore undertook determine risks BRCA2 ascertained irrespective personal or family history cancer....
Purpose To evaluate the long-term survival of ovarian cancer (OvC) patients in total and by BRCA1/2 mutation status. Patients Methods In a nationwide case-control study on OvC conducted Israel between 1994 1999, 779 Jewish women with epithelial invasive were tested for three Ashkenazi founder mutations BRCA1 (185delAG; 5382insC) BRCA2 (6174delT) genes followed up to 2003. Of 605 origin, 213 (35.2%) carried genes. Clinical characteristics abstracted from patients' medical records. The...
We performed a three-phase genome-wide association study (GWAS) using cases and controls from genetically isolated population, Ashkenazi Jews (AJ), to identify loci associated with breast cancer risk. In the first phase, we compared allele frequencies of 150,080 SNPs in 249 high-risk, BRCA1/2 mutation-negative AJ familial 299 cancer-free chi(2) Cochran-Armitage trend tests. second genotyped 343 123 regions most significantly stage 1, including 4 FGFR2 region, 950 consecutive 979 age-matched...
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
Germline mutations in BRCA1 and BRCA2 predispose to pancreatic cancer. We estimated the incidence of cancer a cohort female carriers mutation. also survival rates cases from families with BRCA followed 5149 women mutation for new The standardised ratios (SIR) were calculated based on age group country residence. reviewed pedigrees 8140 or those case recorded year diagnosis death 351 identified cases. Eight incident among all carriers. SIR was 2.55 (95% CI=1.03–5.31, P=0.04) 2.13...
Men with germline breast cancer 1, early onset (BRCA1) or 2, (BRCA2) gene mutations have a higher risk of developing prostate (PCa) than noncarriers. IMPACT (Identification genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium 62 centres 20 countries evaluating the use targeted PCa men mutations.
Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) men with germline BRCA1/2 mutations.