J. Bombled

发表

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

D. Stoppa-Lyonnet, J. Bénard, A. Chompret, 1998, Human molecular genetics.

Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression.

B. Bressac-de Paillerets, J. Bombled, G. Gualco, 2002, Cancer genetics and cytogenetics.

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

G. Peters, G. Lenoir, S. Brookes, 2009, Human mutation.

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

L. Desjardins, D. Stoppa-Lyonnet, B. Bressac-de Paillerets, 2000, British Journal of Cancer.

Germ-line mutations in p16 and CDK4 genes in 38 melanoma families: 459

A. Chompret, F. Demenais, N. Soufir, 1997 .

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

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

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

M. Schlumberger, P. Beck‐Peccoz, L. Persani, 2010, European journal of endocrinology.

Contribution of CDKN2A/P16INK4A, P14ARF, CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2010, Familial Cancer.

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

P. Varlet, O. Delattre, S. Puget, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

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

J. Limacher, M. Barrois, A. Chompret, 2008, British Journal of Cancer.

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

P. Rougier, J. Sabourin, P. Lasser, 1998, British Journal of Cancer.