Advanced Techniques in Colonoscopy in Inherited Cancer Conditions

2021 ◽  
pp. 471-483
Author(s):  
Giulia Martina Cavestro ◽  
Giuliano Francesco Bonura
Keyword(s):  
Inherited Cancer

Inherited Cancer Syndromes

2007 ◽  
Vol 37 (17) ◽  
pp. 42
Author(s):  
GREG FEERO
Keyword(s):  
Inherited Cancer ◽  
Cancer Syndromes

Helping young children understand inherited cancer predisposition syndromes using bibliotherapy

2021 ◽  
Author(s):  
Georgina M. Schlub ◽  
Ashley Crook ◽  
Kristine Barlow‐Stewart ◽  
Jane Fleming ◽  
Judy Kirk ◽  
...  
Keyword(s):  
Young Children ◽  
Cancer Predisposition ◽  
Inherited Cancer

scholarly journals Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kimberly A. Kaphingst ◽  
Wendy Kohlmann ◽  
Rachelle Lorenz Chambers ◽  
Melody S. Goodman ◽  
Richard Bradshaw ◽  
...  
Keyword(s):  
Primary Care ◽  
Genetic Counseling ◽  
Cancer Susceptibility ◽  
Cancer Genetics ◽  
Controlled Trial ◽  
Standard Of Care ◽  
Healthcare Systems ◽  
Genetic Services ◽  
Inherited Cancer ◽  
Services Delivery

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

Decision-Making About Inherited Cancer Risk: Exploring Dimensions of Genetic Responsibility

2009 ◽  
Vol 18 (3) ◽  
pp. 252-264 ◽  
Author(s):  
Holly Etchegary ◽  
Fiona Miller ◽  
Sonya deLaat ◽  
Brenda Wilson ◽  
June Carroll ◽  
...  
Keyword(s):  
Decision Making ◽  
Cancer Risk ◽  
Inherited Cancer

scholarly journals Design and validation of a next generation sequencing assay for hereditaryBRCA1andBRCA2mutation testing

PeerJ ◽  
2016 ◽  
Vol 4 ◽  
pp. e2162 ◽  
Author(s):  
Hyunseok P. Kang ◽  
Jared R. Maguire ◽  
Clement S. Chu ◽  
Imran S. Haque ◽  
Henry Lai ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number Variants ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Cancer Syndrome ◽  
Cancer Screen ◽  
Inherited Cancer ◽  
Increased Risk ◽  
Large Rearrangements ◽  
Generation Sequencing

Hereditary breast and ovarian cancer syndrome, caused by a germline pathogenic variant in theBRCA1orBRCA2(BRCA1/2) genes, is characterized by an increased risk for breast, ovarian, pancreatic and other cancers. Identification of those who have aBRCA1/2mutation is important so that they can take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. We describe the design and analytic validation of the Counsyl Inherited Cancer Screen, a next-generation-sequencing-based test to detect pathogenic variation in theBRCA1andBRCA2genes. We demonstrate that the test is capable of detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy-number variants (CNVs, also known as large rearrangements) with zero errors over a 114-sample validation set consisting of samples from cell lines and deidentified patient samples, including 36 samples withBRCA1/2pathogenic germline mutations.

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