Výsledky vyhledávání - "breast cancer genes"

Akademický článek

Using AI-predicted protein structures as a reference to predict loss-of-function activity in tumor suppressor breast cancer genes

Autor: Rohan Gnanaolivu, Steven N. Hart

Publikováno v: Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 3472-3480 (2024)

Background: The loss-of-function (LOF) classification of most missense variants in tumor suppressor breast cancer genes BRCA1, BRCA2, PALB2, and RAD51C remains unclassified and confounds clinical actionability. Classifying these variants is challengi

Externí odkaz: https://doaj.org/article/6d439b45d0c14e08a4063611c86ab5d8

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Akademický článek

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Akademický článek

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Elektronická kniha

Breast cancer genes and the gendering of knowledge [electronic resource] : science and citizenship in the cultural context of the "new" genetics / Sahra Gibbon.

Autor: Gibbon, Sahra

Externí odkaz: Kolekce e-knih KNAV Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on request.

Akademický článek

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes

Autor: Rahaf M. Ahmad, Bassam R. Ali, Fatma Al-Jasmi, Noura Al Dhaheri, Saeed Al Turki, Praseetha Kizhakkedath, Mohd Saberi Mohamad

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-16 (2024)

Abstract Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in on

Externí odkaz: https://doaj.org/article/0878bc18cc3d4afc895986a1c9f761b1

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Akademický článek

A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

IntroductionThe prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%–10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected

Externí odkaz: https://doaj.org/article/150f3409ddf44abc8817bbe6c52a0d6d

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Akademický článek

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Akademický článek

A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.

Autor: Oliveira LJC; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Rodrigues AM; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Fernandes CB; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Ramos do Rego FO; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Koyama FC; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Souto AKBA; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Santana TA; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Gonzaga de Faria JP; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Lima Bulcão M; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Nascimento ILO; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Silva ACBN; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Gonçalves IPE; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Maia RE; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., de Azevedo RGMV; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Galindo LT; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Pachito DV; Pfizer Brasil, São Paulo, Brazil., Cury A; Pfizer Brasil, São Paulo, Brazil., Zalis MG; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil., Ferrari BL; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Garicochea B; Oncoclinicas&CO - Medica Scientia Innovation Research (MedSir), São Paulo, Brazil., Dienstmann R; Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil.

Publikováno v: Frontiers in oncology [Front Oncol] 2024 Dec 17; Vol. 14, pp. 1495605. Date of Electronic Publication: 2024 Dec 17 (Print Publication: 2024).

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