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Utilizing large-scale genomic screening to characterize cancer risks in individuals with pathogenic/likely pathogenic BRCA1/2 variants
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Abrams, Nataly. Utilizing large-scale genomic screening to characterize cancer risks in individuals with pathogenic/likely pathogenic BRCA1/2 variants. Retrieved from https://doi.org/doi:10.7282/t3-dwtt-kc48

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TitleUtilizing large-scale genomic screening to characterize cancer risks in individuals with pathogenic/likely pathogenic BRCA1/2 variants
NameAbrams, Nataly (author); Rispoli, Jessica (chair); Rutgers University; School of Graduate Studies
Date Created2023
Other Date2023-05 (degree)
SubjectGenetics, BRCA1, BRCA2, Genetic counseling
Extent27 pages
DescriptionCancer risk estimates in individuals with pathogenic/likely pathogenic (P/LP) BRCA1 or BRCA2 (BRCA1/2) variants have been historically based on families clinically ascertained due to personal and/or family history of core cancers (e.g., breast, ovarian, and pancreatic cancers) creating the potential for biases related to cancer risks and management recommendations. Recently, there have been concerted efforts to increase the accessibility of genomic sequencing irrespective of phenotype in clinical and research settings. A study using data from one such effort, the Geisinger MyCode Community Health Initiative, found that 49.4% (44/89) of unselected patients without prior testing were identified with a P/LP BRCA1/2 variant but would not have met NCCN guidelines for genetic testing (Manickam et al., 2018). Characterization of cancer risks associated with P/LP BRCA1/2 in these unselected groups is lacking. Our study used participant genomic and health data from Geisinger’s MyCode EHR-linked biorepository to assess associations between non-core cancers (cholangiocarcinoma, colorectal, endometrial, esophageal, gastric, testicular, thyroid, and urinary tract cancers) and P/LP BRCA1/2 variants. This study identified significantly higher rates of endometrial (3.5% versus 1.9% OR, 9.1), esophageal (0.7% versus 0.2%; OR, 3.4), gastric (1.1% versus 0.2%; OR, 4.5), testicular (1.5% versus 0.3; OR, 5.6), and urinary tract cancers (2.3% versus 1.1%; OR, 2.1) in the P/LP BRCA1/2 variant-positive group (n=742) compared to the variant-negative group (n=165,046). Our study provides a foundation to explore if genetic testing criteria should be updated to incorporate a broader range of cancer risks and enable the consideration of additional cancer surveillance to enable early diagnosis and the use of PARP inhibitors to augment treatment of additional cancers.
NoteM.S.
NoteIncludes bibliographical references
Genretheses
Persistent URLhttps://doi.org/doi:10.7282/t3-dwtt-kc48
LanguageEnglish
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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