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Germline BAP1 mutations predispose also to multiple basal cell carcinomas

Clinical genetics, 2015-09, Vol.88 (3), p.273-277

2015

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Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

Pigment cell and melanoma research, 2013-03, Vol.26 (2), p.259-262

2013

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Subungual squamous cell carcinoma in a BAP1 germline pathogenic variant carrier

Journal of the European Academy of Dermatology and Venereology, 2021-10, Vol.35 (10), p.e665-e667

2021

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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

Journal of medical genetics, 2008-08, Vol.45 (8), p.535-538

2008

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

Clinical genetics, 2017-12, Vol.92 (6), p.606-615

2017

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

Breast cancer research and treatment, 2000-06, Vol.82 (12), p.1932-1937

2000

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

Journal of medical genetics, 2006-06, Vol.43 (6), p.531-533

2006

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Genital and anorectal mucosal melanoma is associated with cutaneous melanoma in patients and in families

British journal of dermatology (1951), 2013-09, Vol.169 (3), p.594-599

2013

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Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes

Familial cancer, 2009-12, Vol.8 (4), p.371-377

2009

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Congenital naevus and melanoma in children: The contribution of genetics

Annales de dermatologie et de vénéréologie, 2020-11, Vol.147 (11), p.703-705

Bressac-de Paillerets, B

2020

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Extensive molecular screening for hereditary non-polyposis colorectal cancer

British journal of cancer, 2000-02, Vol.82 (4), p.871-880

2000

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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

Breast cancer research and treatment, 2013-08, Vol.141 (1), p.135-144

2013

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Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

British journal of dermatology (1951), 2010-12, Vol.163 (6), p.1337-1339

2010

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The Founder Mutation MSH21906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

American journal of human genetics, 2002-12, Vol.71 (6), p.1395-1412

2002

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Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

Journal of medical genetics, 2006-01, Vol.43 (1), p.39-47

2006

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

British journal of cancer, 2008-07, Vol.99 (2), p.364-370

2008

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Search for germline alterations in CDKN2A ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

British journal of cancer, 2005-06, Vol.92 (12), p.2278-2285

2005

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Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families

Clinical genetics, 2004-02, Vol.65 (2), p.131-136

2004

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

JNCI : Journal of the National Cancer Institute, 2004-05, Vol.96 (10), p.785-795

2004

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291: The 5′-untranslated region of p16INK4a acts as a cellular IRES, controls mRNA translation during hypoxic and energetic stresses, and is a target of YBX1

European journal of cancer (1990), 2014-07, Vol.50, p.S69-S69

2014

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Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

JNCI : Journal of the National Cancer Institute, 2010-10, Vol.102 (20), p.1568-1583

2010

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Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

British journal of cancer, 2007-01, Vol.96 (2), p.336-340

2007

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39 The Search for Rare Variants That Contribute to Cancer Susceptibility

European journal of cancer (1990), 2012-07, Vol.48, p.S9-S9

2012

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Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma

Annales de dermatologie et de venereologie, 2015-01, Vol.142 (1), p.26-36

2015

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Activating point mutations in cyclin-dependent kinase 4 are not seen in sporadic pituitary adenomas, insulinomas or Leydig cell tumours

Journal of endocrinology, 2003-08, Vol.178 (2), p.301-310

2003

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Germline BAP1 mutations predispose also to multiple basal cell carcinomas

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

Subungual squamous cell carcinoma in a BAP1 germline pathogenic variant carrier

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

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

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

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

Genital and anorectal mucosal melanoma is associated with cutaneous melanoma in patients and in families

Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes

Congenital naevus and melanoma in children: The contribution of genetics

Extensive molecular screening for hereditary non-polyposis colorectal cancer

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

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

The Founder Mutation MSH21906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

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

Search for germline alterations in CDKN2A ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families

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

291: The 5′-untranslated region of p16INK4a acts as a cellular IRES, controls mRNA translation during hypoxic and energetic stresses, and is a target of YBX1

Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

39 The Search for Rare Variants That Contribute to Cancer Susceptibility

Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma

Activating point mutations in cyclin-dependent kinase 4 are not seen in sporadic pituitary adenomas, insulinomas or Leydig cell tumours

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