A5016429368- BRCA gene mutations in cancer
- Breast Cancer Treatment Studies
- Cancer Risks and Factors
- Global Cancer Incidence and Screening
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Breast Implant and Reconstruction
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- PARP inhibition in cancer therapy
- Economic and Financial Impacts of Cancer
- Breast Lesions and Carcinomas
- Gene expression and cancer classification
- Estrogen and related hormone effects
- Genomics and Rare Diseases
- MRI in cancer diagnosis
- DNA Repair Mechanisms
- Radiomics and Machine Learning in Medical Imaging
- Colorectal Cancer Screening and Detection
- Cancer Research and Treatments
- Cancer survivorship and care
- PI3K/AKT/mTOR signaling in cancer
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
Cleveland Clinic
2015-2024
University Hospitals Seidman Cancer Center
2020-2023
Case Western Reserve University
2018-2023
Cleveland Clinic Lerner College of Medicine
2018-2023
Cancer Institute (WIA)
2019-2021
Community Link
2021
Women’s Health Care
2021
Fred and Pamela Buffett Cancer Center
2020
Susan Thompson Buffett Foundation
2020
Breast Center
2020
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely variants associated with increased risk breast, ovarian, pancreatic cancer recommended approaches to genetic testing/counseling management strategies in individuals these variants. This manuscript focuses BRCA-related breast/ovarian syndrome Li-Fraumeni syndrome. Carriers a BRCA1/2 variant have an excessive both breast ovarian that warrants...
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations genetic testing counseling hereditary cancer syndromes, risk management patients who are diagnosed with syndromes associated an increased of these cancers. panel meets at least annually to review comments, examine relevant new data, reevaluate update recommendations. These Insights summarize the panel’s discussion most recent regarding criteria high-penetrance genes breast...
Importance Identifying hereditary cancer predisposition facilitates high-risk organ-specific surveillance and prevention. In PTEN hamartoma tumor syndrome (PHTS), longitudinal studies remain lacking, there are insufficient data on cancers in children young adults, as well individuals with neurodevelopmental disorders (NDD). Objective To evaluate lifetime risks, including second malignant neoplasms (SMN), among patients PHTS. Design, Setting, Participants Prospective cohort study (September...
Abstract Women at high inherited risk of ovarian cancer are offered risk‐reducing salpingo‐oophorectomy (RRSO) from age 35 to 45 years. Although potentially life‐saving, RRSO may induce symptoms that negatively affect quality life and impair long‐term health. Clinical care following is often suboptimal. This scoping review describes how affects short‐ health provides evidence‐based international consensus recommendations for preoperative counselling disease prevention. includes the efficacy...
Lynch syndrome is an inherited genetic disorder associated with a predisposition to early-onset colorectal and endometrial cancers, but breast cancer risk in these patients debated. The aim of this study evaluate rates cohort patients, as well identify women who may be eligible for additional specific testing or enhanced surveillance (contrast-enhanced magnetic resonance imaging (MRI) screening).Using hereditary registry at single academic institution identification syndrome, retrospective...
Breast cancer risk estimates for atypical lesions are based primarily on case-control studies of patients with open biopsies. The authors report the cumulative breast incidence after a core biopsy diagnosis hyperplasia (ductal or lobular) lobular carcinoma in situ.A cohort study central pathology review was conducted 393 who had diagnoses and situ from 1995 through 2010. Follow-up available 255 264 (97%) at median 87 months (range, 3-236 months).There were 212 (54%) not upgraded excision no...
Polygenic risk scores (PRSs) for breast cancer (BC) stratification have been developed primarily in women of European ancestry. Their application to non-European ancestry has lagged because the lack a formal approach incorporate genetic and ancestry-dependent variant frequencies effect sizes. Here, we propose multiple-ancestry PRS (MA-PRS) that addresses these issues may be useful development equitable PRSs across other cancers common diseases.Women referred hereditary testing were divided...
PurposeWe previously described a combined risk score (CRS) that integrates multiple-ancestry polygenic (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present longitudinal validation of CRS in real-world cohort.MethodsThis study included 130,058 patients referred for hereditary genetic testing and negative germline pathogenic variants BC-associated genes. Data were obtained by linking test results medical claims (median follow-up 12.1 months)....
Abstract Background Recommendations for breast surveillance following plastic surgery are frequently changing. Establishing guidelines long-term monitoring protocols may help identify treatable conditions and prevent untoward sequelae. We sought to evaluate the current state of evidence-based patients augmentation, reduction, reconstruction. Methods Official from various American societies international were analyzed alignment in recommendations regarding surveillance. Results The most...
BackgroundBilateral nipple-sparing mastectomy (NSM) is a technically feasible operation and associated with excellent cosmetic outcomes. The aim of this study was to evaluate trends in patient characteristics, indications for surgery long-term outcomes bilateral NSM breast cancer risk reduction over time.
In this ongoing case series, 33 genetic testing cases are documented in which tests were recommended, ordered, interpreted, or used incorrectly and/or clinicians faced challenges related to history/reports provided by patients laboratories.An invitation submit of errors was issued the general National Society Genetic Counselors Listserv, Cancer Special Interest Group members, as part a series with Precision Oncology News, and via social media (i.e., Facebook, Twitter, LinkedIn). Deidentified...
Abstract Background: Triple-negative breast cancer (TNBC) has a poor prognosis and may be associated with germline mutations. α-Lactalbumin (aLA) is expressed in lactating breasts but not at other times or tissues. Expression of aLA found 70% TNBC (PMID: 27322324) so could an immunologic target for based on the “retired protein hypothesis” 31926646). In pre-clinical studies, vaccination provided protection from development autochthonous tumors transgenic murine models inhibited growth...
Personalized management of patients at risk ideally should involve a multidisciplinary team not only genetic counselors and surgeons, but also women's health or menopause specialists, knowledgeable psychologists, primary care providers obstetrician–gynecologists aware the risks fears “previvors” (survivors predisposition to cancer who have had disease) face as well issues that are common postoperatively. Identification for hereditary cancer, understanding current testing modalities potential...