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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2011

A guide for functional analysis of BRCA1 variants of uncertain significance

artículo científico publicado en 2012

A missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

artículo científico publicado en 2017

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

artículo científico publicado en 2020

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2015

Escherichia coli-specific CXCL13-producing TFH are associated with clinical efficacy of neoadjuvant PD-1 blockade against muscle-invasive bladder cancer

artículo científico publicado en 2022

Frequent homologous recombination deficiency in high-grade endometrial carcinomas

article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

artículo científico publicado en 2012

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

scientific article published on 29 May 2015

Hereditary forms of ovarian cancer ⬇️

artículo científico publicado el 1 de abril de 2012

Long-term outcomes of oral vinorelbine in advanced, progressive desmoid fibromatosis and influence of CTNNB1 mutational status

artículo científico publicado en 2020

Non-Coding Variants in and Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

article

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

artículo científico publicado en 2013

Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

scientific article published on 14 October 2019

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