Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1530-0366

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance ; day:22 ; month:10 ; year:2020 ; pages:1-10
Genetics in medicine ; (22.10.2020), 1-10

Creator: Lyra, Paulo C. M.
Nepomuceno, Thales C.
Souza, Marcele L. M. de
Machado, Géssica F.
Veloso, Mariana F.
Henriques, Taciane B.
Santos, Diandra Z. dos
Ribeiro, Iuly G.
Ribeiro, Roberto S.
Rangel, Leticia B. A.
Richardson, Marcy
Iversen, Edwin S.
Goldgar, David
Couch, Fergus J.
Carvalho, Marcelo A.
Monteiro, Alvaro N. A.

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41436-020-00991-0

URN: urn:nbn:de:101:1-2020120619414731431084

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:39 AM CEST

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Associated

Lyra, Paulo C. M.
Nepomuceno, Thales C.
Souza, Marcele L. M. de
Machado, Géssica F.
Veloso, Mariana F.
Henriques, Taciane B.
Santos, Diandra Z. dos
Ribeiro, Iuly G.
Ribeiro, Roberto S.
Rangel, Leticia B. A.
Richardson, Marcy
Iversen, Edwin S.
Goldgar, David
Couch, Fergus J.
Carvalho, Marcelo A.
Monteiro, Alvaro N. A.
SpringerLink (Online service)

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

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Other Objects (12)

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

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The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer

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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

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Variance of uncertain random variables

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Stabilization of nonlinear uncertain systems

Variance of uncertain random variables

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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing

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Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

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