Lista de obras - Brigitte Bressac-de Paillerets

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2011

A germline mutation in PBRM1 predisposes to renal cell carcinoma

artículo científico publicado en 2015

A germline oncogenic MITF mutation and tumor susceptibility.

artículo científico

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

artículo científico publicado en 2003

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

artículo científico publicado en 2000

Absence of microsatellite instability in thyroid carcinomas ⬇️

artículo científico publicado el 1 de enero de 1995

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

artículo científico publicado en 1998

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

artículo científico publicado en 2001

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

BRAF as a melanoma susceptibility candidate gene?

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

Characteristics of the coexistence of melanoma and renal cell carcinoma

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Diversity of the clinical presentation of the MMR gene biallelic mutations

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

Factors associated with altered long-term well-being after prophylactic salpingo-oophorectomy among women at increased hereditary risk for breast and ovarian cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Genetic and environmental factors in cutaneous malignant melanoma

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Genetic testing for melanoma.

artículo científico publicado en 2002

Genetic testing in pheochromocytoma or functional paraganglioma

artículo científico publicado en 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

artículo científico publicado en 2011

Geographical variation in the penetrance of CDKN2A mutations for melanoma

artículo científico publicado en 2002

Germline BAP1 mutations predispose to renal cell carcinomas

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Germline mutations of inhibins in early-onset ovarian epithelial tumors

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2010

Localization of a novel melanoma susceptibility locus to 1p22

artículo científico publicado en 2003

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?

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Mutations at BRCA1: the medullary breast carcinoma revisited.

artículo científico publicado en 1998

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

artículo científico publicado en 2004

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

Testing for BRCA1 mutations: a cost-effectiveness analysis

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

Tracking of second primary melanomas in vemurafenib-treated patients

artículo científico publicado en 2013

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

artículo científico publicado en 1999

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

artículo científico publicado en 2003

Lista de obras de 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