Publications by authors named "Anna Tenes"

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Novel truncating germline variant reinforces as a susceptibility gene for familial non-medullary thyroid cancer.
Josep Oriola, Orland Díez, Mireia Mora, Irene Halperin, Sandra Martínez, Anna Tenes

J Med Genet· September 2024

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An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
Laura Blasco-Pérez, Leticia Iranzo-Nuez, Ricard López-Ortega, Desirée Martínez-Cruz, María Camprodon-Gómez

J Mol Diagn· September 2023

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A Novel Intragenic Duplication in the Gene Underlying a Case of Cornelia de Lange Syndrome.
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, Anna Tenes

Genes (Basel)· August 2022

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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Gemma Montalban, Sandra Bonache, Vanessa Bach, Alexandra Gisbert-Beamud, Anna Tenés

Cancer Genet· November 2021

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez

Cancers (Basel)· July 2021

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Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Neus Gadea, Anna Tenés

Hum Mutat· December 2019

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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Anna Tenés

Breast Cancer Res Treat· April 2019

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Screening of deep intronic regions by targeted gene sequencing identifies the first germline variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Alexandra Gisbert-Beamud, Anna Tenés

J Med Genet· February 2019

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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Sandra Bonache, Irene Esteban, Alejandro Moles-Fernández, Anna Tenés, Laura Duran-Lozano

J Cancer Res Clin Oncol· December 2018

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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Sara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, Ana Osorio, Marta Santamariña

Int J Cancer· May 2014

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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita Brandão

Clin Chem· February 2014

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Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
Sandra Bonache, Sara Gutierrez-Enriquez, Anna Tenés, Miriam Masas, Judith Balmaña

Gynecol Oncol· November 2013

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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
Sandra Bonache, Miguel de la Hoya, Sara Gutierrez-Enriquez, Anna Tenés, Miriam Masas

J Cancer Res Clin Oncol· March 2013

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Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.
Orland Diez, Amadeu Pelegrí, Neus Gadea, Sara Gutiérrez-Enríquez, Miriam Masas

Oncol Lett· November 2011

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Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.
Orland Diez, Sara Gutiérrez-Enríquez, Miriam Masas, Anna Tenés, Carme Yagüe

Breast Cancer Res Treat· September 2010

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