List of works - Brigitte Bressac-de Paillerets

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

scientific article published on 10 September 2009

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

scientific article

A germline mutation in PBRM1 predisposes to renal cell carcinoma

scientific article

A germline oncogenic MITF mutation and tumor susceptibility.

scientific article published on 26 October 2013

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

scientific article published on 01 April 2003

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

scientific article

Absence of microsatellite instability in thyroid carcinomas ⬇️

scientific article published on 01 January 1995

Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers

scientific article

Association between germ cell tumours, large numbers of naevi, atypical naevi and melanoma

scientific article published on 01 April 2001

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

BRAF as a melanoma susceptibility candidate gene?

scientific article published in June 2003

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

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

scientific article

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

Characteristics of the coexistence of melanoma and renal cell carcinoma

scientific article published in December 2010

Characteristics, treatment, and outcome of breast cancers diagnosed in BRCA1 and BRCA2 gene mutation carriers in intensive screening programs including magnetic resonance imaging

scientific article published in April 2010

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

scientific article published on 15 April 2015

Common breast cancer-predisposition alleles are associated with 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 near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

scientific article (publication date: 12 February 2012)

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

scientific article

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

scientific article published on 01 December 2018

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 de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

scientific article

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression

scientific article

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

scientific article published on 20 September 2011

Diversity of the clinical presentation of the MMR gene biallelic mutations

scientific article published on 01 March 2014

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

scientific article published in Nature

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

scientific article published on 05 February 2019

FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells

scientific article published on 18 January 2021

Factors Associated with Altered Long-Term Well-Being After Prophylactic Salpingo-Oophorectomy Among Women at Increased Hereditary Risk for Breast and Ovarian Cancer ⬇️

scientific article published on July 17, 2011

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

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro

scientific article published on 26 January 2010

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

scientific article

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

Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas

scientific article

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

scientific article published in April 2016

Genetic and environmental factors in cutaneous malignant melanoma

scientific article

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis

scientific article published on 4 November 2014

Genetic testing for melanoma.

scientific article

Genetic testing in pheochromocytoma or functional paraganglioma

scientific article published in December 2005

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Geographical variation in the penetrance of CDKN2A mutations for melanoma

scientific article

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 SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk and prognosis.

scientific article published on 24 November 2017

Germline mutations of inhibins in early-onset ovarian epithelial tumors

scientific article

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

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

High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.

scientific article

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

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

scientific article

Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.

scientific article published on 13 September 2017

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 Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Localization of a novel melanoma susceptibility locus to 1p22

scientific article

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

scientific article published on 12 March 2019

MITF: a genetic key to melanoma and renal cell carcinoma?

scientific article

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees

scientific article published in October 2005

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

scientific article published on 5 February 2013

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

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

scientific article

Mutations at BRCA1: the medullary breast carcinoma revisited.

scientific article

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

scientific article

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

scientific article published on 12 March 2011

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published in November 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 September 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 February 2020

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

scientific article published on June 2000

Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure

scientific article published in June 2000

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

scientific article

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

scientific article published on 16 March 2017

Relationship between genome and epigenome--challenges and requirements for future research

scientific article published on 18 June 2014

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

scientific article published on 26 May 2015

Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

scientific article published on 01 February 2003

Selection criteria for genetic assessment of patients with familial melanoma

scientific article published in October 2009

Senescent cells develop a PARP-1 and nuclear factor-{kappa}B-associated secretome (PNAS)

scientific article

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

scientific article published on 01 November 2004

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

Testing for BRCA1 mutations: a cost-effectiveness analysis

scientific article published in October 2002

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

scientific article published on 18 November 2015

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

article

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma

scientific article published on 28 September 2016

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

scientific article

Tracking of second primary melanomas in vemurafenib-treated patients

scientific article published in April 2013

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis]

scientific article published on 01 August 1999

eMelanoBase: an online locus-specific variant database for familial melanoma

scientific article

List of works by Brigitte Bressac-de Paillerets

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

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

A germline mutation in PBRM1 predisposes to renal cell carcinoma

A germline oncogenic MITF mutation and tumor susceptibility.

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

Absence of microsatellite instability in thyroid carcinomas ⬇️

Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers

Association between germ cell tumours, large numbers of naevi, atypical naevi and melanoma

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

BRAF as a melanoma susceptibility candidate gene?

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

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

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

Characteristics of the coexistence of melanoma and renal cell carcinoma

Characteristics, treatment, and outcome of breast cancers diagnosed in BRCA1 and BRCA2 gene mutation carriers in intensive screening programs including magnetic resonance imaging

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

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

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

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

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

Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

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

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

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

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Diversity of the clinical presentation of the MMR gene biallelic mutations

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

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells

Factors Associated with Altered Long-Term Well-Being After Prophylactic Salpingo-Oophorectomy Among Women at Increased Hereditary Risk for Breast and Ovarian Cancer ⬇️

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

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

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

Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

Genetic and environmental factors in cutaneous malignant melanoma

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis

Genetic testing for melanoma.

Genetic testing in pheochromocytoma or functional paraganglioma

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Genome-wide association study identifies three loci associated with melanoma risk

Genome-wide association study identifies three new melanoma susceptibility loci

Geographical variation in the penetrance of CDKN2A mutations for melanoma

Germline BAP1 mutations predispose to renal cell carcinomas

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

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk and prognosis.

Germline mutations of inhibins in early-onset ovarian epithelial tumors

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

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

High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

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

Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.

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

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Localization of a novel melanoma susceptibility locus to 1p22

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

MITF: a genetic key to melanoma and renal cell carcinoma?

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

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

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

Mutations at BRCA1: the medullary breast carcinoma revisited.

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma