Amie Blanco
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View article: Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial
Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial Open
View article: Validation study of risk-reduction activities after personalized breast cancer education tool in the WISDOM study
Validation study of risk-reduction activities after personalized breast cancer education tool in the WISDOM study Open
Breast cancer risk reduction strategies have been well-validated, but barriers remain for high-risk individuals to adopt them. We performed a study among participants with high risk of breast cancer to validate whether a virtual breast hea…
View article: Synchronous or metachronous breast and colorectal cancers in younger-than-average-age patients: a case series
Synchronous or metachronous breast and colorectal cancers in younger-than-average-age patients: a case series Open
Background The incidence of breast and colorectal cancer (CRC) in younger-than-average-age patients is rising and poorly understood. This is the largest study on patients with both cancers who are less than 60 years old and aims to charact…
View article: The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration
The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration Open
Background Pancreatic ductal adenocarcinoma (PDAC) surveillance is recommended for some individuals with a pathogenic or likely pathogenic variant (PV/LPV) in a PDAC susceptibility gene; the recommendation is often dependent on family hist…
View article: Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk Open
Background Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of BRCA1 / BRCA2 (CIMBA), …
View article: Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants
Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants Open
Purpose Germline pathogenic variants in checkpoint kinase 2 ( CHEK2 ) are associated with a moderately increased risk of breast cancer (BC). The spectrum of clinicopathologic features and genetics of these tumors has not been fully establi…
View article: P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition
P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition Open
View article: The WISDOM study: a new approach to screening can and should be tested
The WISDOM study: a new approach to screening can and should be tested Open
View article: Implementation of an Embedded <scp>In-Clinic</scp> Genetic Testing Station to Optimize Germline Testing for Patients with Pancreatic Adenocarcinoma
Implementation of an Embedded <span>In-Clinic</span> Genetic Testing Station to Optimize Germline Testing for Patients with Pancreatic Adenocarcinoma Open
Background Germline genetic testing is universally recommended for patients with pancreatic cancer, but testing remains infrequent. In May 2018, we implemented a systematic patient intake workflow featuring an in-clinic genetic testing sta…
View article: Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer Open
The findings of this study suggest that germline analysis following tumor sequencing often produces findings that may impact patient care by influencing systemic therapy choices, surgical decisions, additional cancer screening, and genetic…
View article: Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants Open
View article: Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019 Open
PURPOSE Germline testing (GT) is a central feature of prostate cancer (PCA) treatment, management, and hereditary cancer assessment. Critical needs include optimized multigene testing strategies that incorporate evolving genetic data, cons…
View article: Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes Open
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silic…
View article: The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer Open
View article: Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study
Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study Open
BRCA+ patients have similar rates of PCs, high-risk features in their cysts, and PDAC as BRCA- and untested patients. BRCA+ patients likely do not require dedicated abdominal imaging to evaluate for PCs and should follow management guideli…
View article: Pathogenic and likely pathogenic variants in <i>PALB2</i> , <i>CHEK2</i> , and other known breast cancer susceptibility genes among 1054 <i>BRCA</i> ‐negative Hispanics with breast cancer
Pathogenic and likely pathogenic variants in <i>PALB2</i> , <i>CHEK2</i> , and other known breast cancer susceptibility genes among 1054 <i>BRCA</i> ‐negative Hispanics with breast cancer Open
Background Breast cancer (BC) is the most common cancer and related cause of mortality among Hispanics, yet susceptibility has been understudied. BRCA1 and BRCA2 ( BRCA ) mutations explain less than one‐half of hereditary BC, and the propo…
View article: <i>BRCA1</i>and<i>BRCA2</i>pathogenic sequence variants in women of African origin or ancestry
<i>BRCA1</i>and<i>BRCA2</i>pathogenic sequence variants in women of African origin or ancestry Open
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 of the PSV distribution in African descent indivi…
View article: NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018
NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018 Open
The NCCN Guidelines for Colorectal Cancer (CRC) Screening outline various screening modalities as well as recommended screening strategies for individuals at average or increased-risk of developing sporadic CRC. The NCCN panel meets at lea…
View article: Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify
Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify Open
View article: Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations
Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations Open
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1…
View article: Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017 Open
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene te…
View article: Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance Open
Providers and patients encounter challenges related to the management of Variants of Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. This…
View article: Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study
Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study Open
We report the first study exploring neuropsychological, behavioral, emotional, and structural brain characteristics of patients with FAP and found subjective differences as assessed by maternal perception in behavioral and emotional charac…
View article: Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome Open