A5067783851- BRCA gene mutations in cancer
- Global Cancer Incidence and Screening
- Breast Cancer Treatment Studies
- Cancer Genomics and Diagnostics
- Cancer Risks and Factors
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Cancer survivorship and care
- Economic and Financial Impacts of Cancer
- Advanced Breast Cancer Therapies
- Genomics and Rare Diseases
- Cancer Treatment and Pharmacology
- HER2/EGFR in Cancer Research
- Radiomics and Machine Learning in Medical Imaging
- Multiple and Secondary Primary Cancers
- Health Systems, Economic Evaluations, Quality of Life
- Cancer Immunotherapy and Biomarkers
- Nutritional Studies and Diet
- Colorectal Cancer Screening and Detection
- Prenatal Screening and Diagnostics
- Physical Activity and Health
- Breast Lesions and Carcinomas
Stanford University
2016-2025
Stanford Medicine
2006-2025
Christian Medical College & Hospital
2025
Christian Medical College
2025
Cancer Genetics (United States)
2019-2024
Cancer Prevention Institute of California
2009-2024
Stanford Cancer Institute
2015-2024
Palo Alto University
2017-2024
Cancer Institute (WIA)
2016-2023
New York University
2023
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 Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations genetic testing counseling hereditary cancer syndromes risk management patients who are diagnosed with a syndrome. focus on associated an increased of breast and/or ovarian cancer. panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data publications abstracts, reevaluate update recommendations....
All cancers develop as a result of mutations in certain genes, such those involved the regulation cell growth and/or DNA repair, 1,2 but not all these are inherited from parent.For example, sporadic can occur somatic/ tumor cells only, and de novo for first time germ (i.e., egg or sperm) fertilized itself during early embryogen-
Population-based estimates of the risk breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for assessment and management women inherited variants.
Background To improve cancer therapy, it is critical to target metastasizing cells. Circulating tumor cells (CTCs) are rare found in the blood of patients with solid tumors and may play a key role dissemination. Uncovering CTC phenotypes offers potential avenue inform treatment. However, transcriptional profiling limited by leukocyte contamination; an approach surmount this problem single cell analysis. Here we demonstrate feasibility performing high dimensional profiling, providing early...
Multiple-gene sequencing is entering practice, but its clinical value unknown. We evaluated the performance of a customized germline-DNA panel for cancer-risk assessment in representative sample.Patients referred BRCA1/2 testing from 2002 to 2012 were invited donate research blood sample. Samples frozen at -80° C, and DNA was extracted them after 1 10 years. The entire coding region, exon-intron boundaries, all known pathogenic variants other regions sequenced 42 genes that had cancer risk...
Background: Although incidence rates of breast cancer molecular subtypes are well documented, effects on cancer-specific survival using the largest population coverage to date unknown in U.S.Methods: Using Surveillance, Epidemiology and End Results registry data, we assessed after diagnosis among women diagnosed during 2010 2013 followed through December 31, 2014. Breast defined by joint hormone receptor [HR, estrogen (ER) and/or progesterone (PR)] HER2 status were assessed. Multiple...
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...
Genetic testing for cancer risk has expanded rapidly. We examined clinical genetic and results among population-based patients with breast ovarian cancer.The study included all women 20 years of age or older diagnosed in California Georgia between 2013 2014 reported to the SEER registries covering entire state populations. data were linked from four laboratories that performed nearly germline testing. Testing use analyzed at gene level.There 77,085 6,001 cancer. Nearly one quarter those...
IMPORTANCEThe practice of genetic testing for hereditary breast and/or ovarian cancer (HBOC) is rapidly evolving owing to the recent introduction multigene panels.While these tests may identify 40% 50% more individuals with gene mutations than does BRCA1/2 alone, whether finding such will alter clinical management unknown.OBJECTIVE To define potential effect panel HBOC in a clinically representative cohort. DESIGN, SETTING, AND PARTICIPANTSObservational study patients seen between 2001 and...
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations genetic testing counseling risk assessment management hereditary cancer syndromes. focus on syndromes associated with an increased of breast and/or ovarian are intended to assist clinical shared decision-making. These Insights summarize major discussion points the 2015 panel meeting. Major topics this year included multigene testing, less common mutations, salpingectomy reduction. also...
Metastatic breast cancer (MBC) treatment has changed substantially over time, but we do not know whether survival post-metastasis improved at the population level.We searched for studies of MBC patients that reported after metastasis in least two time periods between 1970 and present. We used meta-regression models to test improvement four disease groups: recurrent, recurrent estrogen (ER)-positive, ER-negative, de novo stage IV. performed sensitivity analyses based on bias some could lead...
<h3>Importance</h3> Given recent advances in screening mammography and adjuvant therapy (treatment), quantifying their separate combined effects on US breast cancer mortality reductions by molecular subtype could guide future decisions to reduce disease burden. <h3>Objective</h3> To evaluate the contributions associated with treatment based estrogen-receptor (ER) human epidermal growth factor receptor 2 (<i>ERBB2</i>, formerly<i>HER2</i>or<i>HER2/neu</i>). <h3>Design, Setting,...
Abstract Introduction Breast cancers are increasingly recognized as heterogeneous based on expression of receptors for estrogen (ER), progesterone (PR), and human epidermal growth factor receptor 2 (HER2). Triple-negative tumors (ER - /PR /HER2 ) have been reported to be more common among younger women, but occurrence the spectrum breast cancer subtypes in adolescent young adult (AYA) women aged between 15 39 years is otherwise poorly understood. Methods Data regarding all 5,605 AYA...
Bilateral mastectomy is increasingly used to treat unilateral breast cancer. Because it may have medical and psychosocial complications, a better understanding of its use outcomes essential optimizing cancer care.
Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little known about the context such or its impact on treatment. Methods A population-based sample patients diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia Los Angeles) were surveyed genetic experiences (N = 3,672; response rate, 68%). Responses merged data. patient subgroup at higher pretest pathogenic mutation...
Background Breast cancer incidence is higher among black women than white before age 40 years, but after years (black–white crossover). We used newly available population-based data to examine whether the age-specific incidences of breast subtypes vary by race and ethnicity.
This study was designed to assess efficacy, safety, and predictors of response iniparib in combination with gemcitabine carboplatin early-stage triple-negative BRCA1/2 mutation-associated breast cancer.This single-arm phase II enrolled patients stage I IIIA (T ≥ 1 cm) estrogen receptor-negative (≤ 5%), progesterone human epidermal growth factor receptor 2-negative or cancer. Neoadjuvant (1,000 mg/m(2) intravenously [IV] on days 8), (area under curve 2 IV (5.6 mg/kg 1, 4, 8, 11) were...
<h3>Importance</h3> Low-cost sequencing of multiple genes is increasingly available for cancer risk assessment. Little known about uptake or outcomes multiple-gene after breast diagnosis in community practice. <h3>Objective</h3> To examine the effect on experience and treatment patients with cancer. <h3>Design, Setting, Participants</h3> For this population-based retrospective cohort study, diagnosed from January 2013 to December 2015 accrued SEER registries across Georgia Los Angeles,...
Multiple-gene, next-generation sequencing panels are increasingly used to assess hereditary cancer risks of patients with diverse personal and family histories. The magnitude breast ovarian risk associated many clinically tested genes, independent history, remains be quantified.We queried a commercial laboratory database 95,561 women for 25-gene (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CHEK2, MLH2, MSH2, MSH6, MUTYH, NBN, P14ARF, P16, PALB2, PMS2, PTEN, RAD51C, RAD51D,...
The coronavirus disease 2019 (COVID-19) pandemic has disrupted breast cancer control through short-term declines in screening and delays diagnosis treatments. We projected the impact of COVID-19 on future mortality between 2020 2030.Three established Cancer Intervention Surveillance Modeling Network models modeled reductions mammography use, symptomatic diagnosis, reduced use chemotherapy for women with early-stage first 6 months return to prepandemic patterns after that time. Sensitivity...
Abstract Pathogenic variants (PVs) in ATM are relatively common, but the scope and magnitude of risk remains uncertain. This study aimed to estimate PV cancer risks independent family history. analysis included patients referred for hereditary testing with a multi-gene panel (N = 627,742). Cancer carriers 4,607) were adjusted history using multivariable logistic regression reported as ORs 95% confidence intervals (CIs). Subanalyses c.7271T&gt;G missense conducted. Moderate-to-high...