List of works - Lisa Golmard

"Decoding hereditary breast cancer" benefits and questions from multigene panel testing

scientific article published on 08 January 2019

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

scientific article published on 22 September 2021

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

scientific article published on 25 January 2019

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

scientific article published on 25 April 2015

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

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

scientific article

Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

scientific article published on 23 June 2020

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

scientific article published on 01 December 2018

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

scientific article

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies

scientific article published on 23 April 2020

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

scientific article

First estimates of diffuse gastric cancer risks for carriers of <i>CTNNA1</i> germline pathogenic variants

scientific article published in 2022

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas

scientific article

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

scientific article published on 14 March 2020

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

scientific article published on 30 October 2017

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

scientific article published on 22 February 2018

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

scientific article published on 11 February 2020

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

scientific article published on 17 August 2017

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

scientific article

List of works by Lisa Golmard

"Decoding hereditary breast cancer" benefits and questions from multigene panel testing

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

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

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Cancer Risks Associated With and Pathogenic Variants

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

Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies

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

First estimates of diffuse gastric cancer risks for carriers of <i>CTNNA1</i> germline pathogenic variants

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas

Germline mutation in the RAD51B gene confers predisposition to breast cancer

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

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