A5050037868- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Nutrition, Genetics, and Disease
- Colorectal Cancer Screening and Detection
- Ethics in Clinical Research
- Ethics and Legal Issues in Pediatric Healthcare
- Prenatal Screening and Diagnostics
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- PARP inhibition in cancer therapy
- Family Support in Illness
- Childhood Cancer Survivors' Quality of Life
- Colorectal Cancer Treatments and Studies
- DNA Repair Mechanisms
- PI3K/AKT/mTOR signaling in cancer
- Biomedical Ethics and Regulation
- Colorectal and Anal Carcinomas
- Cancer-related Molecular Pathways
- Healthcare Systems and Technology
- Patient-Provider Communication in Healthcare
- Renal and related cancers
- Medical Coding and Health Information
- Male Breast Health Studies
Massachusetts General Hospital
2015-2024
Center for Cancer Research
2012-2024
Harvard University Press
2001-2021
ICF International (United States)
2020
Harvard University
2000-2019
University of Utah
2013-2014
Huntsman Cancer Institute
2013-2014
Seattle Cancer Care Alliance
2013-2014
University of Washington Medical Center
2013-2014
The Ohio State University
2013-2014
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-
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...
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...
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk breast, ovarian, pancreatic, prostate cancer, including BRCA1 , BRCA2 CDH1 PALB2 PTEN TP53 recommended approaches to genetic counseling/testing care strategies in individuals these P/LP variants. These Insights summarize important updates regarding: (1) a new section transgender, nonbinary...
During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on assessment mutations in BRCA1/BRCA2, TP53, PTEN, recommend approaches testing/counseling management strategies individuals with these mutations. This portion includes recommendations regarding diagnostic criteria patients Cowden...
BACKGROUND Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC) and endometrial (EC). Screening all CRCs for LS currently recommended, but screening ECs inconsistent. The objective this study was to determine added value both CRC EC tumors in same population. METHODS A prospective, immunohistochemistry (IHC)‐based program patients with newly diagnosed initiated 2011 2013, respectively, at 2 centers (primary tertiary). Genetic testing recommended those who had...
OBJECTIVES: Lynch syndrome (LS) is a hereditary cancer that conveys high risk of colorectal (CRC). Guidelines recommend colonoscopy every 1 to 2 years. There limited information about screening compliance in this high-risk group. METHODS: Data behaviors were obtained from subjects recruited through four US genetics clinics. The main outcome was prevalence appropriate CRC surveillance for LS. RESULTS: A total 181 individuals had family history met the Amsterdam criteria LS (n=154) and/or an...
To evaluate the impact of a CD-ROM intervention in education patients with suspected Lynch syndrome (LS) about microsatellite instability (MSI) and immunohisochemistry (IHC) testing.Two hundred thirteen meeting Bethesda criteria were randomly assigned to receive either brief educational session health educator (n = 105) or plus 108). Assessments administered at baseline 2 weeks post-treatment. Primary outcomes included MSI IHC knowledge level satisfaction completeness preparation make...
Background: Women with a family history of breast cancer have several menopausal therapy options, including tamoxifen, hormone (HT), alternative medications, or no treatment. This complex decision should be based on each woman's risk to develop cancer, symptoms, preferences, and risks for other conditions. The authors determined the effects personalized assessment genetic counseling intervention knowledge, perception, making in group healthy women who had first-degree relative cancer....
Abstract The COVID‐19 pandemic has significantly disrupted the delivery of healthcare services, including oncology. To ensure continuity cancer genetic counseling at a large academic medical center while also promoting safety patients and staff, our team transitioned to fully remote telephone testing services within 48 hr. We compare differences in six weeks following shift (post‐COVID) preceding (pre‐COVID). maintained 99% total visit capacity saw decrease patient no‐show rate from 9.5%...
Women with Lynch syndrome (LS) have a high risk of developing endometrial carcinoma (EC) and, less frequently, ovarian carcinoma. As EC not uncommonly is the first malignancy, prophylactic hysterectomy (PH) has been increasingly implemented. In this study, we report clinicopathologic features series 70 LS patients who underwent either PH (n=39) or nonprophylactic (NPH) (n=31) at 3 tertiary referral centers. Among 39 PH, 2 had tumors seen grossly, whereas 37 showed no macroscopic lesions....
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...
Lynch syndrome is the most common cause of hereditary colon cancer but also associated with gastric cancer.1 Interestingly, was a distinguishing feature original pedigree described in 1913.2 Currently, standardised incidence ratio (SIR) for estimated to be 3.4.3 Among 255 gene-positive patients followed prospectively our Hereditary Gastrointestinal Cancer programme, 7 (2.7%, 95% CI 1.3% 5.7%) were diagnosed at median age 55 years. Six carried an MSH2 mutation, five women and exhibited...