Agnes Chompret

Summary

Affiliation: Institut Gustave Roussy
Country: France

Publications

  1. ncbi [Oncogenetic consultation for breast cancer]
    Agnes Chompret
    Institut Gustave Roussy, 94805 Villejuif, France
    Presse Med 36:357-63. 2007
  2. ncbi [Clinical and molecular diagnosis of inherited breast-ovarian cancer]
    A Chompret
    Consultation d Oncogénétique, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex
    J Gynecol Obstet Biol Reprod (Paris) 32:101-19. 2003
  3. ncbi The Li-Fraumeni syndrome
    Agnes Chompret
    Département de Médecine Institut Gustave Roussy, Villejuif, France
    Biochimie 84:75-82. 2002
  4. ncbi [Genetic diagnosis of cancers? Which cancers should be screened?]
    A Chompret
    Consultation d Oncogénétique, Departement de Medecine, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex
    Ann Med Interne (Paris) 152:249-61. 2001
  5. ncbi BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma
    Christian Monnerat
    Department of Genetics, Institut Gustave Roussy, 39 rue Camille Desmoulins, Villejuif Cedex, France
    Fam Cancer 6:453-61. 2007
  6. ncbi BRAF as a melanoma susceptibility candidate gene?
    Karine Laud
    Service de Genetique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France
    Cancer Res 63:3061-5. 2003
  7. doi Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients
    Caroline Kannengiesser
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Hum Mutat 30:564-74. 2009
  8. ncbi PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor
    Agnes Chompret
    Department of Medicine, Institut Gustave Roussy, Villejuif, France
    Gastroenterology 126:318-21. 2004
  9. ncbi New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment
    Caroline Kannengiesser
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Genes Chromosomes Cancer 46:751-60. 2007
  10. doi Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations
    Laurence Brugieres
    Department of Paediatric Oncology, Institut Gustave Roussy, 94805 Villejuif, France
    J Med Genet 47:142-4. 2010

Collaborators

Detail Information

Publications17

  1. ncbi [Oncogenetic consultation for breast cancer]
    Agnes Chompret
    Institut Gustave Roussy, 94805 Villejuif, France
    Presse Med 36:357-63. 2007
    ..Prophylactic mastectomy may be envisioned. Prophylactic adnexectomy is also usually recommended to prevent ovarian cancer, around the age of 40 years...
  2. ncbi [Clinical and molecular diagnosis of inherited breast-ovarian cancer]
    A Chompret
    Consultation d Oncogénétique, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex
    J Gynecol Obstet Biol Reprod (Paris) 32:101-19. 2003
    ..Clinical cancer genetics include: diagnostic cancer genetics, cancer genetic counseling and management of women at high risk of developing breast and/or ovarian cancer...
  3. ncbi The Li-Fraumeni syndrome
    Agnes Chompret
    Département de Médecine Institut Gustave Roussy, Villejuif, France
    Biochimie 84:75-82. 2002
    ..The identification of germline p53 mutations in rare cancer-prone families has given rise to the medical, counseling, psychological and ethical problems...
  4. ncbi [Genetic diagnosis of cancers? Which cancers should be screened?]
    A Chompret
    Consultation d Oncogénétique, Departement de Medecine, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex
    Ann Med Interne (Paris) 152:249-61. 2001
    ..Specific consultations in oncogenetics are being settled to help clinicians and patients in the course of establishing molecular diagnoses, and providing guidelines for a better surveillance of high-risk persons...
  5. ncbi BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma
    Christian Monnerat
    Department of Genetics, Institut Gustave Roussy, 39 rue Camille Desmoulins, Villejuif Cedex, France
    Fam Cancer 6:453-61. 2007
    ..Genetic factors common to both cancers can be suspected. Our goal was to estimate the involvement of "high risk" genes in patients presenting these two neoplasia, selected irrespectively from family history and age at diagnosis...
  6. ncbi BRAF as a melanoma susceptibility candidate gene?
    Karine Laud
    Service de Genetique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France
    Cancer Res 63:3061-5. 2003
    ..Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene...
  7. doi Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients
    Caroline Kannengiesser
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Hum Mutat 30:564-74. 2009
    ..Discriminating between mutant and neutral variants of p16(INK4A) not only adds to our understanding of the functionally critical residues in the protein but provides information that can be used for melanoma risk prediction...
  8. ncbi PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor
    Agnes Chompret
    Department of Medicine, Institut Gustave Roussy, Villejuif, France
    Gastroenterology 126:318-21. 2004
    ..The present study shows that PDGFRA is a second familial GIST predisposing gene. These results indicate a further example of involvement of structurally related genes in familial cancer syndromes...
  9. ncbi New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment
    Caroline Kannengiesser
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Genes Chromosomes Cancer 46:751-60. 2007
    ..This observation suggests that there is a need for reconsideration of the hypothesis that levodopa may play a role in melanoma development, at least when in the context of a high-risk genetic background...
  10. doi Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations
    Laurence Brugieres
    Department of Paediatric Oncology, Institut Gustave Roussy, 94805 Villejuif, France
    J Med Genet 47:142-4. 2010
    ..In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, seven developed medulloblastomas...
  11. ncbi Genetic epidemiology of neuroblastoma: a study of 426 cases at the Institut Gustave-Roussy in France
    Taraneh Shojaei-Brosseau
    Unité de Recherches en Epidémiologie des Cancers INSERM U521, Institut Gustave Roussy, Villejuif Cedex, France
    Pediatr Blood Cancer 42:99-105. 2004
    ..The aim of this study was to estimate the fraction of inherited cases and penetrance associated with a carrier status, and to investigate the hypothesis that susceptibility cancer genes might be non-specific...
  12. ncbi Surgical procedure in patients with ovarian cancer diagnosed at the time of prophylactic oophorectomy. Analysis of two cases, literature review and surgical implications
    P Morice
    Institut Gustave Roussy, 39 rue Camlle Desmoulins, Villejuif Cedex 94805, France
    Eur J Obstet Gynecol Reprod Biol 113:251-4. 2004
    ..5 years of follow-up after the end of adjuvant treatment. In order to ensure the exact spread of the disease. Lymphadenectomy should be performed in patients with ovarian cancer diagnosed at the time of prophylactic surgery...
  13. ncbi [Prophylactic mastectomies and immediate breast reconstruction in patients at very high genetic risk: our experience with 14 cases]
    M C Missana
    Unité de chirurgie carcinologique et reconstructrice mammaire, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94800 Villejuif, France
    Ann Chir Plast Esthet 53:325-33. 2008
    ..We report our experience with 14 patients at very high genetic risk having undergone a bilateral prophylactic mastectomy with immediate breast reconstructive surgery...
  14. ncbi Genetic and environmental factors in cutaneous malignant melanoma
    Brigitte Bressac-de-Paillerets
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Biochimie 84:67-74. 2002
    ..Current studies aim to identify other susceptibility genes as well as to determine the respective contributions and interactions of the various genetic and environmental factors of CMM and associated phenotypes...
  15. pmc P53 germline mutations in childhood cancers and cancer risk for carrier individuals
    A Chompret
    , Institute Gustave Roussy, Villejuif, France
    Br J Cancer 82:1932-7. 2000
    ..The risk of cancer associated with such mutations is very high and no evidence of low penetrance mutation was found. These mutations are frequently inherited but de novo mutations are not rare...
  16. pmc The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
    F Lesueur
    Groupe Mélanome, Institut Gustave Roussy, FRE2939 CNRS Université Paris Sud, Villejuif, France
    Br J Cancer 99:364-70. 2008
    ..1% of total mutations in this series (1 of 48), confirming that they explain a very small proportion of CMM susceptibility. In addition, we excluded a new gene on 9p21, KLHL9, as being a major CMM gene...
  17. ncbi Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect
    S Auroy
    , Institut Gustave Roussy, Villejuif, France
    Genes Chromosomes Cancer 32:195-202. 2001
    ..Therefore, it can be concluded that de novo germline CDKN2A mutations associated with MPM are rare...