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Bradford Coffee

Explore the profile of Bradford Coffee including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 30
Citations 688
Followers 0
Related Specialties
Genetics
Oncology
Molecular Biology
Top 10 Co-Authors
Debora Mancini-DiNardo
Hannah C Cox
Stephen T Warren
Benjamin B Roa
Susan Manley
Lawrence N Hjelm
Erin Mundt
Lora J H Bean
Karla R Bowles
Madhuri Hegde
Published In
Genet Med
Am J Hum Genet
Am J Med Genet A
Cancer Genet
J Mol Diagn
Affiliations
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Recent Articles
1.
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome
Pan S, Cox H, Willmott J, Mundt E, Gorringe H, Landon M, et al.
Front Oncol . 2023 Feb; 13:1069467. PMID: 36793599
Background And Aims: Tumor immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins is often used to guide germline genetic testing and variant classification for patients with suspected Lynch syndrome....
2.
Reply to R. Karam et al
Nix P, Mundt E, Manley S, Coffee B, Roa B
JCO Precis Oncol . 2022 Jan; 4:1224-1225. PMID: 35050779
No abstract available.
3.
Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One Variant
Nix P, Mundt E, Manley S, Coffee B, Roa B
JCO Precis Oncol . 2022 Jan; 4:730-735. PMID: 35050751
No abstract available.
4.
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
Nix P, Mundt E, Coffee B, Goossen E, Warf B, Brown K, et al.
Fam Cancer . 2021 Jan; 21(1):7-19. PMID: 33469799
A substantial proportion of pathogenic variants associated with an increased risk of hereditary cancer are sequence variants affecting RNA splicing. The classification of these variants can be complex when both...
5.
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically
Coffee B, Cox H, Bernhisel R, Manley S, Bowles K, Roa B, et al.
Hum Mutat . 2019 Sep; 41(1):203-211. PMID: 31490007
Previous analysis of next-generation sequencing (NGS) hereditary pan-cancer panel testing demonstrated that approximately 40% of TP53 pathogenic and likely pathogenic variants (PVs) detected have NGS allele frequencies between 10% and...
6.
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing
Slavin T, Coffee B, Bernhisel R, Logan J, Cox H, Marcucci G, et al.
Cancer Genet . 2019 May; 235-236:31-38. PMID: 31056428
Next-generation sequencing (NGS) hereditary pan-cancer panel testing can identify somatic variants, which exhibit lower allele frequencies than do germline variants and may confound hereditary cancer predisposition testing. This analysis examined...
7.
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle
Bowles K, Mancini-DiNardo D, Coffee B, Cox H, Qian Y, Elias M, et al.
Future Oncol . 2018 Aug; 15(1):65-79. PMID: 30113232
Expanded genetic test utilization to guide cancer management has driven the development of larger gene panels and greater diversity in the patient population pursuing testing, resulting in increased identification of...
8.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
Pasquali M, Yu C, Coffee B
Genet Med . 2017 Dec; 20(1):3-11. PMID: 29261178
Disclaimer: These ACMG Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards...
9.
Identification of pathogenic retrotransposon insertions in cancer predisposition genes
Qian Y, Mancini-DiNardo D, Judkins T, Cox H, Brown K, Elias M, et al.
Cancer Genet . 2017 Oct; 216-217:159-169. PMID: 29025590
Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here...
10.
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel
Coffee B, Cox H, Kidd J, Sizemore S, Brown K, Manley S, et al.
Cancer Genet . 2017 Mar; 211:5-8. PMID: 28279308
Next Generation Sequencing (NGS) multigene panels, which are routinely used to assess hereditary cancer risk, can detect both inherited germline variants and somatic variants in cancer-risk genes. We evaluated the...