Amie Blanco
A5019349024- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- Pancreatic and Hepatic Oncology Research
- Multiple and Secondary Primary Cancers
- Nutrition, Genetics, and Disease
- Neuroendocrine Tumor Research Advances
- Colorectal and Anal Carcinomas
- Ethics in Clinical Research
- Colorectal Cancer Treatments and Studies
- Lung Cancer Research Studies
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Ovarian cancer diagnosis and treatment
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Colorectal Cancer Surgical Treatments
- Bioinformatics and Genomic Networks
- Biomedical Ethics and Regulation
- Prostate Cancer Treatment and Research
- Cancer Research and Treatments
- Global Cancer Incidence and Screening
- Ethics and Legal Issues in Pediatric Healthcare
- Hedgehog Signaling Pathway Studies
University of California, San Francisco
2015-2024
UCSF Helen Diller Family Comprehensive Cancer Center
2014-2024
Cancer Genetics (United States)
2018-2024
U-M Rogel Cancer Center
2022
UC Irvine Health
2021
Health Net
2021
Sanford Health
2018-2019
University of California, San Diego
2018-2019
University of California, Davis
2018-2019
University of California, Irvine
2018-2019
Background: Testing has been advocated for all persons with newly diagnosed colorectal cancer to identify families the Lynch syndrome, an autosomal dominant cancer-predisposition syndrome that is a paradigm personalized medicine. Objective: To estimate effectiveness and cost-effectiveness of strategies attention sex, age at screening, differential effects probands relatives. Design: Markov model incorporated risk colorectal, endometrial, ovarian cancers. Data Sources: Published literature....
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 testing (GT) is a central feature of prostate cancer (PCA) treatment, management, and hereditary assessment. Critical needs include optimized multigene strategies that incorporate evolving genetic data, consistency in GT indications alternate evaluation models address the rising demand for services. A multidisciplinary consensus conference included experts, stakeholders, national organization leaders was convened response to current practice challenges develop implementation...
The NCCN Guidelines for Colorectal Cancer (CRC) Screening outline various screening modalities as well recommended strategies individuals at average or increased-risk of developing sporadic CRC. panel meets least annually to review comments from reviewers within their institutions, examine relevant data, and reevaluate update recommendations. These Insights summarize 2018 updates the Guidelines, with a primary focus on used screen average-risk
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with risks BRCA1 and BRCA2 pathogenic variant carriers. Retrospective cohort data on 18,935 12,339 female carriers of European ancestry were available. Three versions a 313 single-nucleotide polymorphism (SNP) BC PRS evaluated based whether they predict overall, estrogen receptor (ER)-negative, ER-positive BC, two overall high-grade serous EOC. Associations...
<h3>Importance</h3> Both germline genetic testing and tumor DNA sequencing are increasingly used in cancer care. The indications for utility of these 2 tests differ, guidelines recommend that analysis follow certain patients to determine whether particular variants somatic or origin. Broad clinical experience with such follow-up has not yet been thoroughly described. <h3>Objective</h3> To examine the yield following a large, diverse patient population. <h3>Design, Setting, Participants</h3>...
Although there is consensus on the cost-effectiveness of a universal approach screening all colorectal cancer patients for Lynch syndrome (LS) using mismatch-repair (MMR) protein immunohistochemistry (IHC) and/or microsatellite instability (MSI) testing, question versus selective endometrial remains to be resolved. We have prospectively implemented algorithm newly diagnosed patients, triggered by patient age 50 years or younger, personal/family pedigree that meets Bethesda guideline...
Providers and patients encounter challenges related to the management of Variants Unknown Significance (VUS). A VUS introduces new counseling dilemmas for understanding psychosocial impact uncertain genetic test results. This descriptive study uses Mishel's theory uncertainty in illness explore experience individuals who have received a as part testing process. Semi-structured interviews were conducted with 27 adult Lynch syndrome mismatch repair genes between 2002 2013. The transcribed...
Whole exome sequencing (WES) uses next generation technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due the vast amount of and incidental findings that can be generated from this technology, patient preferences must investigated help clinicians consent return results patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative syndrome genetic through traditional...
Background Breast cancer (BC) is the most common and related cause of mortality among Hispanics, yet susceptibility has been understudied. BRCA1 BRCA2 ( BRCA ) mutations explain less than one‐half hereditary BC, proportion associated with other BC genes unknown. Methods Germline DNA from 1054 ‐mutation–negative Hispanic women (BC diagnosed at age <51 years, bilateral breast ovarian cancer, or ages 51‐70 years ≥2 first‐degree second‐degree relatives who had <70 years), 312 local...
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...
BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review published literature publicly available databases reporting also accessed Consortium Investigators Modifiers (CIMBA) database to identify or Using these data, we inferred which BRCA were likely be...
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast risk. FANCM, which encodes for translocase, has been proposed as predisposition gene, greater effects the ER-negative triple-negative (TNBC) subtypes. We tested three recurrent protein-truncating FANCM:p.Arg658*, p.Gln1701*, p.Arg1931* association 67,112 cases, 53,766 controls, 26,662 carriers of BRCA1 or...
Abstract Background Germline genetic testing is universally recommended for patients with pancreatic cancer, but remains infrequent. In May 2018, we implemented a systematic patient intake workflow featuring an in-clinic station (GTS) at the University of California San Francisco (UCSF) to expedite counseling and facilitate sample collection. We sought determine impact this innovation on rates testing. Methods Medical records, test reports were retrospectively reviewed new cancer eligible...
Abstract Objective : Li–Fraumeni syndrome (LFS) confers an increased risk of multiple types cancer in both children and adults. Clinical genetic testing for deleterious germline p53 gene mutations can identify most LFS‐affected families. We evaluated factors associated with cancer‐specific distress perceived self‐efficacy coping a positive test result among persons at having mutations. Methods One hundred thirty‐five from 15 families were invited to take part study that offered counseling...
Germline testing for men with prostate cancer (PCa) poses numerous implementation barriers. Alternative models of care delivery are emerging, but outcomes understudied. We evaluated a hybrid oncologist- and genetic counselor-delivered model called the station (GTS) created to streamline increase access.A prospective, single-institution, cohort study PCa referred GTS from October 14, 2019, 2021, was conducted. Using Reach, Effectiveness, Adoption, Implementation, Maintenance framework, we...
Germline pathogenic variants in checkpoint kinase 2 (CHEK2) are associated with a moderately increased risk of breast cancer (BC). The spectrum clinicopathologic features and genetics these tumors has not been fully established.