Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

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Abstrakt

Tytuł:: Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
Autorzy:: Monteiro AN; Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA .
Bouwman P; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Kousholt AN; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Eccles DM; Cancer Sciences, University of Southampton Faculty of Medicine, Southampton, UK.
Millot GA; Hub-DBC, Institut Pasteur, USR 3756 CNRS, Paris, France.
Masson JY; CHU de Québec-Université Laval, Oncology Division, Laval University Cancer Research Center, Quebec City, Quebec, Canada.
Schmidt MK; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Sharan SK; National Cancer Institute at Frederick, Frederick, Maryland, USA.
Scully R; Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Wiesmüller L; Ulm University, Ulm, Baden-Württemberg, Germany.
Couch F; Mayo Clinic, Rochester, Minnesota, USA.
Vreeswijk MPG; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands .
Źródło:: Journal of medical genetics [J Med Genet] 2020 Aug; Vol. 57 (8), pp. 509-518. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
Język:: English
Imprint Name(s):: Original Publication: London : British Medical Association
MeSH Terms:: Genetic Predisposition to Disease*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Female ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans
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Grant Information:: R01 CA095175 United States CA NCI NIH HHS; R01 CA116167 United States CA NCI NIH HHS
Contributed Indexing:: Keywords: cancer: breast; clinical genetics; genetic screening/counselling; getting research into practice; molecular genetics
Substance Nomenclature:: 0 (BRCA1 Protein)
0 (BRCA2 Protein)
Entry Date(s):: Date Created: 20200311 Date Completed: 20210610 Latest Revision: 20210610
Update Code:: 20240105
PubMed Central ID:: PMC7390672
DOI:: 10.1136/jmedgenet-2019-106368
PMID:: 32152249
: Czasopismo naukowe

Competing Interests: Competing interests: LW is an inventor and owner of a patent on a test system for determining genotoxicities and cancer risk.

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