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List of works by Dominique Stoppa-Lyonnet

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

scientific article published on 08 January 2019

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

scientific article published on 10 September 2009

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

scientific article

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article

A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

scientific article published in May 2002

A comparison of bilateral breast cancers in BRCA carriers

scientific article published in June 2005

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A guide to cancer genetics in clinical practice

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

scientific article published on 22 September 2021

A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis

scientific article published on 01 August 2004

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 missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition ⬇️

scientific article published on 01 July 2011

A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening

scientific article published on 16 December 2013

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 single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining

scientific article

A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres

scientific article

A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers

scientific article published on 23 February 2012

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

ATM Gene Mutation Detection Techniques and Functional Analysis.

scientific article

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy

scientific article

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

Acceptability of prophylactic mastectomy in cancer-prone women

scientific article published on 01 January 2000

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

Altered C1 inhibitor genes in type I hereditary angioedema

scientific article published on 01 July 1987

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

scientific article published in January 1999

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

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

scientific article

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

scientific article published in April 2004

Are the hereditary forms of BRCA1 and BRCA2 breast cancer sensitive to estrogens?

scientific article published in July 2004

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

scientific article

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020

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

scientific article published on 13 November 2019

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Ataxia telangiectasia: what impact in clinical oncology?

scientific article published on January 1, 1992

Ataxia-telangiectasia genes and breast cancer risk in a French family study.

scientific article published in January 2005

Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases

scientific article published in August 2015

BAP1 and breast cancer risk

scientific article published on 01 January 2005

BRAF as a melanoma susceptibility candidate gene?

scientific article published in June 2003

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

scientific article published on 26 December 2018

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group

scientific article

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect

scientific article

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

scientific article published on 01 February 2003

BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

scientific article

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

BRCA2 mutation screening is clinically relevant in breast and early prostate cancer families

scientific article published in May 2007

BRCA2 mutations in hereditary breast and ovarian cancer in France

scientific article published in May 1997

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

scientific article published on November 2002

Biallelic inactivation of REV7 is associated with Fanconi anemia

scientific article published on 8 August 2016

Biallelic inactivation of REV7 is associated with Fanconi anemia

scientific article published on March 2017

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

scientific article published on 24 August 2017

Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

scientific article published on 22 January 2015

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome

scientific article

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

scientific article published on June 1999

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

CAG repeat size in Huntingtin alleles is associated with cancer prognosis

scientific article

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

scientific article published on 08 July 2020

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer genetic predisposition: current events and perspectives 2005

scientific article

Cancer genetics services in Europe

scientific article published on October 1999

Cancers de l’ovaire BRCA muté : consultation d’oncogénétique et prescription des inhibiteurs de PARP.

scientific article

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

scientific article

Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers

scientific article published on February 2004

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

scientific article published in June 2003

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes

scientific article published on 17 September 2020

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

scientific article published on 01 July 2008

Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 5 March 2018

Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study

scientific article published on June 2017

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

scientific article

Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

scientific article published on 23 June 2020

Cognitive, emotional and behavioral impact of an uncertain outcome after study of BRCA1/2: review of the literature ⬇️

scientific article published on 01 February 2011

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

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 and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

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 breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Communication in genetic counselling for breast/ovarian cancer

scientific article published on January 2006

Comparison of physicians' and cancer prone women's attitudes about breast/ovarian prophylactic surgery. Results from two national surveys

scientific article published in January 2001

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

scientific article published on 01 December 2018

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

scientific article

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

scientific article

Contribution of CDKN2A/P16 INK4A, P14 ARF, CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma ⬇️

scientific article published on December 1, 2010

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

scientific article

Correction to: Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 01 October 2019

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. ⬇️

scientific article published on 25 October 2017

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

scientific article published on 18 July 2018

Current Policies for Surveillance and Management in Women at Risk for Breast and Ovarian Cancer: A Survey among 16 European Family Cancer Clinics

Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

scientific article published on 4 November 2016

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

scientific article

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility

scientific article published on 28 November 2019

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

scientific article published on 01 December 1999

Deregulated apoptosis in ataxia telangiectasia: association with clinical stigmata and radiosensitivity

scientific article

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

scientific article published in April 2001

Diagnosis of Fanconi anemia in patients with bone marrow failure

scientific article published on 10 March 2009

Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons

scientific article published in June 2001

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

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot

scientific article published on 05 March 2002

Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

scientific article

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

scientific article published on January 2008

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011

Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result

scientific article published on 9 November 2016

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

Effects of genetic consultation on perception of a family risk of breast/ovarian cancer and determinants of inaccurate perception after the consultation

scientific article published on 01 July 2002

Efficacy of anthracycline/taxane-based neo-adjuvant chemotherapy on triple-negative breast cancer in BRCA1/BRCA2 mutation carriers

scientific article published on 19 September 2017

Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2.

scientific article published on January 2010

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

scientific article published on 14 May 2009

Establishment and characterisation of a new breast cancer xenograft obtained from a woman carrying a germline BRCA2 mutation

scientific article

Ethical, social and economic issues in familial breast cancer: a compilation of views from the E.C. Biomed II Demonstration Project

scientific article

European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer

scientific article published on 22 November 2018

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

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

scientific article

Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

scientific article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Evidence for a BRCA1 founder mutation in families of West African ancestry

scientific article published in August 1999

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years

scientific article published in January 2004

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

article

Familial breast cancer: clinical response to induction chemotherapy or radiotherapy related to BRCA1/2 mutations status

scientific article published in April 2009

Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France

scientific article published on 28 August 2019

Familial invasive breast cancers: worse outcome related to BRCA1 mutations

scientific article published on 01 December 2000

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family

scientific article published on 26 July 2012

Familial ovarian carcinoma: pedigree studies and preliminary results from linkage analysis

scientific article published on 01 February 1993

Fanconi anemia and solid malignancies in childhood: a national retrospective study

scientific article published on 8 November 2014

Fertility defects revealing germline biallelic nonsense NBN mutations

scientific article

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

scientific article published on January 2004

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

scientific article published on 22 August 2012

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

scientific article published on 29 September 2015

Four years analysis of cancer genetic clinics activity in France from 1994 to 1997: a survey on 801 patients. French Cooperative Network/Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer

scientific article published on October 1999

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

scientific article

Functional classification of ATM variants in ataxia-telangiectasia patients

scientific article published on 17 May 2019

Functional consequences of ATM sequence variants for chromosomal radiosensitivity

scientific article published on June 2004

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

GENESIS: a French national resource to study the missing heritability of breast cancer

scientific article published on 12 January 2016

Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

scientific article published on 24 December 2020

Genetic consultation: hereditary cancer risk?

scientific article published on 01 April 2011

Genetic testing for breast cancer predisposition in 1999: which molecular strategy and which family criteria?

scientific article published on October 1999

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

scientific article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

scientific article (publication date: 2013)

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

scientific article

Genotype-phenotype correlations in hereditary familial retinoblastoma

scientific article published on 01 March 2007

Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer

scientific article published on 01 February 1996

Germline BAP1 mutations predispose to renal cell carcinomas

scientific article published on 16 May 2013

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma ⬇️

scientific article published on 7 June 2017

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel ⬇️

scientific article published on October 20, 2010

Germline mutations of inhibins in early-onset ovarian epithelial tumors

scientific article

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

scientific article

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

scientific article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

scientific article

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

scientific article

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

scientific article published in February 1996

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

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

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

scientific article published on 29 May 2015

Hereditary forms of ovarian cancer ⬇️

scientific article published on 01 April 2012

High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors

scientific article published on January 2009

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

scientific article published on 05 February 2014

High-risk lesions in high-risk women: a high-risk formalin-based biology!

scientific article published on 01 March 2004

High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE

scientific article published on 01 December 2007

Hormone replacement therapy after prophylactic adnexectomy

scientific article

How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis

scientific article published on 11 December 2019

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

scientific article published on 27 March 2013

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

scientific article published in June 2001

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity

scientific article published on January 2007

Impact of <i>BRCA</i> Mutation Status on Tumor Infiltrating Lymphocytes (TILs), Response to Treatment, and Prognosis in Breast Cancer Patients Treated with Neoadjuvant Chemotherapy

scientific article published on 08 December 2020

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

scientific article

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

scientific article published on 23 March 2006

Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing

scientific article

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

scientific article published on 28 October 2005

Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies ⬇️

scientific article published on 01 December 2009

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

scientific article

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies

scientific article published on 08 December 2014

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

scientific article published in September 2005

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes

scientific article published on February 2000

Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity

scientific article published on 14 November 2015

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe

scientific article published on October 1999

Intraductal component and BRCA1-associated breast cancer

scientific article published on 01 October 1996

Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature

scientific article published on 24 December 2009

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

scientific article published on 2 May 2013

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

scientific article (publication date: 17 October 2003)

Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors

scientific article

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

scientific article published on 14 March 2020

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

scientific article published on 24 August 2013

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

Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer.

scientific article published in September 1999

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

scientific article published on 30 October 2017

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas

scientific article published on 10 July 2013

Low expression of bcl-2 in Brca1-associated breast cancers

scientific article published on November 2000

MDM2 as a modifier gene in retinoblastoma

scientific article published on 4 November 2010

Management of Fanconi Anemia patients with head and neck carcinoma: Diagnosis and treatment adaptation

scientific article published on 29 May 2020

Medullary Breast Carcinoma, a Triple-Negative Breast Cancer Associated with BCLG Overexpression

scientific article published on 01 August 2018

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

Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia ⬇️

scientific article published on January 16, 2013

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

article

Monoallelic germline ATM mutation and organising pneumonia induced by radiation therapy to the breast

scientific article published on 4 February 2016

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype ⬇️

scientific article published on June 12, 2011

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

scientific article

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

scientific article published in August 1998

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

scientific article published on 11 October 2004

Mutation analysis of PALB2 gene in French breast cancer families

article

Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study

scientific article published on 20 January 2016

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

scientific article published on 22 February 2018

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

scientific article published on 16 February 2011

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

No evidence for germline PTEN mutations in families with breast and brain tumours

scientific article published in June 1999

Non-Coding Variants in and Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

article

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

scientific article

Oncogenetic consultation for breast cancer

scientific article published on 9 January 2007

Opposition to Myriad Genetics patents and their total or partial revocation in Europe: early conclusions

scientific article published in June 2005

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

scientific article

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

scientific article published on 12 June 2018

Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing

scientific article published on 11 September 2019

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Patient-Centered Care in Breast Cancer Genetic Clinics

scientific article published on 12 February 2018

Patients' characteristics and rate of Internet use to obtain cancer information

scientific article published on 29 June 2006

Perception accuracy of BRCA1/2 mutation predisposition in breast cancer women and associated factors ⬇️

scientific article published on 01 June 2012

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

scientific article published on February 2003

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers

scientific article published on 09 January 2019

Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer

scientific article published on 24 August 2009

Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation

scientific article published on 01 May 2007

Protein interaction mapping: a Drosophila case study

scientific article published on 14 February 2005

Proteomic analysis of BRCA1-depleted cell line reveals a putative role for replication protein A2 up-regulation in BRCA1 breast tumor development

scientific article published on 4 January 2010

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

scientific article published on 24 September 2019

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

scientific article

Rapid progression of prostate cancer in men with a BRCA2 mutation

scientific article published on 24 June 2008

Re: correspondence from Dr. Michael Swift, Disease Insight Research Foundation, concerning Gutiérrez-Enríquez S, Fernet M, Dörk T, Bremer M, Lauge A, Stoppa-Lyonnet D, Moullan N, Angèle S, Hall J, “Functional consequences of the ATM sequence va

Reply to Salviati et al.

scientific article published in September 2006

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

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Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer

scientific article published on October 1999

Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy

scientific article published in February 2018

Risk of breast cancer recurrence and contralateral breast cancer in relation to BRCA1 and BRCA2 mutation status following breast-conserving surgery and radiotherapy.

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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

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Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

scientific article published on January 1, 2011

Screening of inherited breast cancer with DNA markers

scientific article published on 01 May 1993

Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons

scientific article published on February 2001

Segregation of two BRCA1 mutations in a single family

scientific article published on August 1996

Sensitivity and predictive value of criteria for p53 germline mutation screening

scientific article published on January 2001

Severe 5-fluorouracil toxicity in a woman treated for breast cancer with concurrent osteogenesis imperfecta and dehydrogenase deficiency

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Sex ratio among the offspring of BRCA mutation carriers

scientific article published on 01 August 2004

ShallowHRD: Detection of Homologous Recombination Deficiency from shallow Whole Genome Sequencing

scientific article published on 21 April 2020

Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer ⬇️

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Should chromosome breakage studies be performed in patients with VACTERL association?

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Significant contribution of germline BRCA2 rearrangements in male breast cancer families

scientific article published on 01 November 2004

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

scientific article published on 01 October 2002

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

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Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

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Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study ⬇️

scientific article published on February 29, 2012

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

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Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics

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Survival in early-onset BRCA1 breast-cancer patients. Institut Curie Breast Cancer Group

scientific article published in August 1998

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2013

Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group

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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

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Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

scientific article published on 21 July 2017

Testing for BRCA1 mutations: a cost-effectiveness analysis

scientific article published in October 2002

Testing participation in BRCA1/2-positive families: initiator role of index cases

scientific article published on 01 January 2003

The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French-, German- and Spanish-language versions

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The European BRCA patent oppositions and appeals: coloring inside the lines

scientific article published in August 2013

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 25 August 2009

The biological effects and clinical implications of BRCA mutations: where do we go from here?

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The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

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The contribution of germline rearrangements to the spectrum of BRCA2 mutations

scientific article published on September 2006

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

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The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

scientific article published on 18 October 2013

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

scientific article published on 01 November 2002

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

scientific article published on 01 March 2000

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

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The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

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The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion

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Three new BLM gene mutations associated with Bloom syndrome

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Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect

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Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers

scientific article published on 01 July 1996

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

scientific article published on 9 November 2011

Unusual T cell clones in a patient with Nijmegen breakage syndrome ⬇️

scientific article published on February 1, 1992

Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France

scientific article published on 17 July 2019

Utilisation of prophylactic mastectomy in 10 European centres

scientific article published on October 1999

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

scientific article published on 03 July 2012

Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors

scientific article published on 01 June 2002

Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)

scientific article published on 15 July 2011

Visualizing Chromosomes as Transcriptome Correlation Maps: Evidence of Chromosomal Domains Containing Co-expressed Genes—A Study of 130 Invasive Ductal Breast Carcinomas

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Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?

scientific article published on 11 October 2013

X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors

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[CHEK2 and breast cancer risk]

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[Considerations on the organization of oncologic-genetic consultations (a first step towards the publication of clinical practice guidelines)]

scientific article published on 01 October 1995

[Constitutional MMR deficiency: Genetic bases and clinical implications]

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[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes].

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[Environmental and genetic risk factors for endometrial carcinoma]

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[Familial disclosure by healthcare professionals in absence of genetic mutation]

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[Federal judge and government of the United States against gene patenting]

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[Federal judge and government of the United States against gene patenting]

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[Genetic predisposition and ovarian cancer]

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[Genetic predisposition in children cancers in 2011]

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[Hereditary predisposition for cancer of the breast and the ovary]

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[Hormonotherapy for breast cancer prevention: What about women with genetic predisposition to breast cancer?]

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[Revocation of the BRCA1 patents by the European Office of Patents: a victory over a rights abuse]

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[The Supreme Court free genes - economic and legal justifications - impacts on innovation and the healthcare offer]

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[The goals and limits of the debate]

scientific article published on 01 September 1999

[Under what conditions should we propose a prophylactic mastectomy for a woman at risk?]

scientific article published on 01 September 1999

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