Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Erin, Mundt"'
Autor:
Tuya Pal, Erin Mundt, Marcy E. Richardson, Elizabeth Chao, Tina Pesaran, Thomas P. Slavin, Fergus J. Couch, Alvaro N. A. Monteiro
Publikováno v:
npj Precision Oncology, Vol 8, Iss 1, Pp 1-9 (2024)
Abstract Prior studies have suggested the existence of reduced penetrance pathogenic variants (RPPVs) in BRCA1 and BRCA2 (BRCA) which pose challenges for patient counseling and care. Here, we sought to establish RPPVs as a new category of variants. C
Externí odkaz:
https://doaj.org/article/96e995e3f2de44aea2cb93b12232b567
Autor:
Shujuan Pan, Hannah Cox, Jamie Willmott, Erin Mundt, Heidi Gorringe, Michelle Landon, Karla R. Bowles, Bradford Coffee, Benjamin B. Roa, Debora Mancini-DiNardo
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Background and AimsTumor 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. This analysis examined the spectr
Externí odkaz:
https://doaj.org/article/0f97dd750ae846e5a3e82eca3ba5ac20
Autor:
Shelly Cummings, Erin Mundt, Ann Marie Miller, TinaMarie Bauman, Thomas Slavin, Robert Maganini
Publikováno v:
Cancer Research. 83:P5-03
BACKGROUND Accurate interpretation of hereditary cancer germline genetic variants is critical to ensuring appropriate care. Myriad Genetics has developed tools that are instrumental in the accurate classification of variants, including a previously d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a0e95e899633256545049a469102751
https://doi.org/10.1158/1538-7445.sabcs22-p5-03-03
https://doi.org/10.1158/1538-7445.sabcs22-p5-03-03
Autor:
Elizabeth Goossen, Karla R. Bowles, Paola Nix, Benjamin B. Roa, Bryan M. Warf, Bradford Coffee, Erin Mundt, Krystal Brown
Publikováno v:
Familial Cancer
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 non-functional and functional transcrip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a24b81ff5cbd7911397cbcf1c373da
https://doi.org/10.1007/s10689-020-00224-y
https://doi.org/10.1007/s10689-020-00224-y
Publikováno v:
JCO Precision Oncology. :730-735
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49d1d1223ac19a141dcaaa6d165bc216
https://doi.org/10.1200/po.20.00118
https://doi.org/10.1200/po.20.00118
Autor:
Eric Rosenthal, Erin Mundt, Stephanie Meek, Susan Manley, Ryan Bernhisel, Heidi Gorringe, Katie Larson, Shanell Hatcher, Irene Rainville
Publikováno v:
Breast Cancer Research and Treatment
Purpose Compared to breast cancer risk genes such as BRCA2, ATM, PALB2, and NBN, no defined phenotype is currently associated with biallelic pathogenic variants (PVs) in CHEK2. This study compared the prevalence of breast and other cancers in women w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4809056a615f900a08d3136899cf12a1
https://doi.org/10.1007/s10549-020-05543-3
https://doi.org/10.1007/s10549-020-05543-3
Publikováno v:
JCO precision oncology. 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bceb83935c010c90340975455b3d662
https://pubmed.ncbi.nlm.nih.gov/35050751
https://pubmed.ncbi.nlm.nih.gov/35050751
Publikováno v:
The Oncologist. 22:797-803
Background There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433e5bd16af8868f168d04259aa24c37
https://doi.org/10.1634/theoncologist.2016-0431
https://doi.org/10.1634/theoncologist.2016-0431
Publikováno v:
JCO Precision Oncology. :1224-1225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d3ea1138fe5f868bcc8365bbb72b64
https://doi.org/10.1200/po.20.00347
https://doi.org/10.1200/po.20.00347
Autor:
Theodora S. Ross, Jacqueline Mersch, Nichole Brown, Lisa Esterling, Hannah C. Cox, Melissa Aston, Krystal Brown, Susan Manley, Erin Mundt, Sara Pirzadeh-Miller
Importance Variant reclassification is an important component of hereditary cancer genetic testing; however, there are few published data quantifying the prevalence of reclassification. Objective Retrospective cohort study of individuals who had gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ba16fb02c6584d08bd0bfe4d059ead
https://europepmc.org/articles/PMC6233618/
https://europepmc.org/articles/PMC6233618/
