Eva M Esteban-Cardeñosa

发表

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

J. Godino, A. Osorio, O. Díez, 2013, Carcinogenesis.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

J. Benítez, A. Osorio, T. Ramón Y Cajal, 2014, International journal of cancer.

The variant E233G of the RAD51D gene could be a low‐penetrance allele in high‐risk breast cancer families without BRCA1/2 mutations

Pilar Zamora, Trinidad Caldés, Ana Osorio, 2004, International journal of cancer.

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.

E. Velasco, M. Durán, C. Miner, 2004, Clinical chemistry.

BRCA1 5272‐1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

M. Tejada, E. Velasco, A. Acedo, 2010, Clinical genetics.

High proportion of novel mutations ofBRCA1 andBRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)

E. Velasco, M. Durán, C. Miner, 2006, Journal of Human Genetics.

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis

C. García-Girón, E. Velasco, M. Durán, 2005, Electrophoresis.

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes

E. Velasco, M. Durán, C. Miner, 2007, Nature Protocols.

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla‐Leon: Identification of four novel truncating mutations

E. Velasco, M. Durán, C. Miner, 2003, Human mutation.

The breast cancer low‐penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

J. Benítez, A. Osorio, C. Alonso, 2004, International journal of cancer.

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

M. Durán, C. D. Lobatón, M. Infante, 2019, Breast.

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

F. Pagani, E. Velasco, A. Acedo, 2010, Clinical Cancer Research.

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

K. Claes, F. Avila Cobos, M. Durán, 2020, Cancers.

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

M. Durán, C. D. Lobatón, M. Infante, 2018, Molecular carcinogenesis.