E. Carrasco

发表

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients

J. Surrallés, M. Ramírez, M. Bogliolo, 2021, American journal of hematology.

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

I. Chirivella, C. Lázaro, G. Capellá, 2014, European journal of cancer.

Age of Salpingo-Oophorectomy and Risk of Peritoneal Carcinomatosis in Patients with a BRCA Mutation

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2015 .

Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia.

J. Surrallés, A. Page, R. García-Escudero, 2022, Oral oncology.

Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

J. Brunet, J. Balmaña, M. Salinas, 2021, Genetics in Medicine.

Fanca and p53 genes cooperate to suppress oral SCC in transgenic mice

J. Surrallés, A. Page, R. García-Escudero, 2022, bioRxiv.

Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast cancer

F. Clatot, F. Puglisi, R. Ponzone, 2021, ESMO open.

Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy

J. Balmaña, C. Díaz-de-Heredia, A. de Pablo García-Cuenca, 2021, Clinical and Translational Oncology.

Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants

K. Pogoda, F. Clatot, M. Dieci, 2021, NPJ breast cancer.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

Clinical consequences of BRCA2 hypomorphism

J. Surrallés, S. Bonache, O. Díez, 2021, NPJ breast cancer.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

F. Mancuso, S. Bonache, O. Díez, 2018, Journal of Cancer Research and Clinical Oncology.

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Journal of Medical Genetics.

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

J. Benítez, I. Chirivella, D. Salas, 2015, Familial Cancer.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

A. Carrió, J. Dopazo, B. Rodríguez-Santiago, 2019, Journal of Medical Genetics.

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

O. Díez, E. Tizzano, M. Codina-Solà, 2022, European Journal of Human Genetics.

Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations.

K. Pogoda, F. Clatot, M. Dieci, 2020, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.

J. Surrallés, M. Ramírez, P. Mehta, 2019, Cancer letters.

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Gabriel Capellá, Ana Vega, Alejandro Moles-Fernández, 2018, Front. Genet..

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Breast Cancer Research and Treatment.

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2019, Human mutation.

Paired somatic-germline testing of 15 polyposis and colorectal cancer-predisposing genes highlights the role of APC mosaicism in de novo familial adenomatous polyposis.

C. Lázaro, G. Capellá, X. Matías-Guiu, 2021, The Journal of molecular diagnostics : JMD.

Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result

C. Lázaro, O. Díez, J. Balmaña, 2023, Journal of genetic counseling.

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

O. Díez, E. Tizzano, M. Codina-Solà, 2022, Journal of Medical Genetics.

Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma

M. Dueñas, R. García-Escudero, J. Balmaña, 2023, medRxiv.

ctDNA in Breast Milk for Early Detection of Pregnancy Associated Breast Cancer

J. Tabernero, P. Nuciforo, R. Dienstmann, 2021 .

Early-Stage Breast Cancer Detection in Breast Milk

J. Tabernero, P. Nuciforo, R. Dienstmann, 2023, Cancer discovery.

Human Mutation

S. Bonache, O. Díez, J. Balmaña, 2019 .