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List of works by Encarna B Gómez García

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A white raven detected by imaging

scientific article published on July 2015

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

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

scientific article

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.

scientific article published on 9 January 2017

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

scientific article

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

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002 ⬇️

scientific article published on February 17, 2012

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

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

scientific article (publication date: 2013)

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

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

scientific article published on 01 September 2019

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

scientific article published on 15 December 2014

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

scientific article published on 21 October 2016

Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome ⬇️

scientific article published on July 17, 2012

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

scientific article published on 01 April 2018

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

scientific article published on 01 May 2018

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers ⬇️

scientific article published on March 27, 2013

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ⬇️

scientific article published on January 25, 2012

Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer

scientific article published on 6 December 2017

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

scientific article published on 01 March 2019

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

scientific article published on 25 June 2015

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

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