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Johny Bombled

Explore the profile of Johny Bombled including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 147
Followers 0
Related Specialties
Genetics
Oncology
Endocrinology
Top 10 Co-Authors
Brigitte Bressac-de Paillerets
Olivier Caron
Audrey Remenieras
Michel Barrois
Christine Maugard
Isabelle Coupier
Veronica Cusin
Stephane Richard
Nicolas Janin
Olivier Mauffret
Published In
Cancer Genet Cytogenet
J Med Genet
Hum Mutat
J Clin Oncol
Eur J Endocrinol
Affiliations
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Recent Articles
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Caputo S, Golmard L, Leone M, Damiola F, Guillaud-Bataille M, Revillion F, et al.
Am J Hum Genet . 2021 Oct; 108(10):1907-1923. PMID: 34597585
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention...
2.
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age
Brugieres L, Remenieras A, Pierron G, Varlet P, Forget S, Byrde V, et al.
J Clin Oncol . 2012 Apr; 30(17):2087-93. PMID: 22508808
Purpose: Germline mutations of the SUFU gene have been shown to be associated with genetic predisposition to medulloblastoma, mainly in families with multiple cases of medulloblastoma and/or in patients with...
3.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefevre S, Perrier-Trudova V, et al.
J Med Genet . 2011 Mar; 48(4):226-34. PMID: 21398687
Background: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell...
4.
Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro
Muzza M, Cordella D, Bombled J, Bressac-de Paillerets B, Guizzardi F, Francis Z, et al.
Eur J Endocrinol . 2010 Jan; 162(4):771-7. PMID: 20103606
Context: Most germline-activating mutations of the RET proto-oncogene associated with inherited medullary thyroid cancer (MTC) are localized in exons 10, 11 and 13-15. Four novel RET variants, located in the...
5.
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients
Kannengiesser C, Brookes S, del Arroyo A, Pham D, Bombled J, Barrois M, et al.
Hum Mutat . 2009 Mar; 30(4):564-74. PMID: 19260062
Germline mutations of the CDKN2A gene are found in melanoma-prone families and individuals with multiple sporadic melanomas. The encoded protein, p16(INK4A), comprises four ankyrin-type repeats, and the mutations, most of...
6.
Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression
Delgado L, Fernandez G, Gonzalez A, Bressac-de Paillerets B, Gualco G, Bombled J, et al.
Cancer Genet Cytogenet . 2002 Mar; 133(1):24-8. PMID: 11890985
The relative contribution of heritable and nonheritable factors to disease expression in BRCA2 mutation carriers is largely unknown. This report describes a familial breast cancer syndrome in a pair of...