Search

Your search keyword '"Nelleke Gruis"' showing total 3 results
Start Over Author "Nelleke Gruis" Topic pedigree
3 results on '"Nelleke Gruis"'

1. Germline

Author

Fanélie, Jouenne, Isaure, Chauvot de Beauchene, Emeline, Bollaert, Marie-Françoise, Avril, Olivier, Caron, Olivier, Ingster, Axel, Lecesne, Patrick, Benusiglio, Philippe, Terrier, Vincent, Caumette, Daniel, Pissaloux, Arnaud, de la Fouchardière, Odile, Cabaret, Birama, N'Diaye, Amélie, Velghe, Gaelle, Bougeard, Graham J, Mann, Serge, Koscielny, Jennifer H, Barrett, Mark, Harland, Julia, Newton-Bishop, Nelleke, Gruis, Remco, Van Doorn, Marion, Gauthier-Villars, Gaelle, Pierron, Dominique, Stoppa-Lyonnet, Isabelle, Coupier, Rosine, Guimbaud, Capucine, Delnatte, Jean-Yves, Scoazec, Alexander M, Eggermont, Jean, Feunteun, Luba, Tchertanov, Jean-Baptiste, Demoulin, Thierry, Frebourg, and Brigitte, Bressac-de Paillerets

Subjects
Male, Heterozygote, Receptor, Platelet-Derived Growth Factor alpha, Genes, p16, Sarcoma, Soft Tissue Neoplasms, Pedigree, Genetic Determinism, Exome Sequencing, Cyclin-Dependent Kinase Inhibitor p18, Humans, Female, Genetic Predisposition to Disease, Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation
Abstract

Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation inGermline mutations in

Published
2016

2. Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count

Author

Nelleke Gruis, La, Sandkuijl, Jl, Weber, van der Zee A, Am, Borgstein, Bergman W, and Rr, Frants

Subjects
Adult, Genetic Markers, Male, Skin Neoplasms, Genetic Linkage, Chromosome Mapping, Pedigree, Humans, Female, Lod Score, Chromosomes, Human, Pair 9, Dysplastic Nevus Syndrome, Nevus, Netherlands
Abstract

Familial atypical multiple mole-melanoma (FAMMM) syndrome is characterized by the familial occurrence of malignant melanoma of the skin in combination with multiple atypical precursor naevi. In the present study we performed linkage analysis in seven Dutch FAMMM families to define the relationship between the ultimate phenotype melanoma and the postulated precursors, atypical (dysplastic) naevi. Various models were defined, varying from melanoma only to various combinations of melanoma and atypical naevi, reflecting the FAMMM phenotype. Using 124 microsatellite markers spread across all autosomes, hints for linkage were obtained between several chromosome 9p markers and a melanoma locus (D9S171; odds for linkage, 275:1). In a model including melanoma and a florid manifestation of atypical naevi a considerably higher lod score was obtained with D9S171 (odds for linkage, 4365:1); models including milder manifestations yielded less support. We conclude that, also in the Dutch FAMMM families, a melanoma gene is located on the short arm of chromosome 9 and that multiple atypical naevi, at least in certain cases, seems to be a component of the FAMMM phenotype.

Published
1993

3. Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come?

Author

Nelleke Gruis, Pa, Velden, Bergman W, and Rr, Frants

Subjects
Skin Neoplasms, Chromosomes, Human, Pair 1, Genetic Linkage, Neoplastic Syndromes, Hereditary, Humans, Chromosomes, Human, Pair 9, Melanoma, Cyclin-Dependent Kinase Inhibitor p16, Cytochrome Reductases, Cytochrome-B(5) Reductase, Neoplasm Proteins, Netherlands, Pedigree
Abstract

By the genetic localization of the first melanoma susceptibility gene on chromosome 1p we thought that the puzzle on familial melanoma families would soon be solved. Now, almost fifteen years later we have learned that inherited melanoma is not a simple genetic disorder and that multiple genes, modifying genes and environmental factors might be involved. This paper outlines the current understanding of the genetics of melanoma and the relationship to atypical nevi based on more than ten years of genetic analysis in the Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families.

Catalog

Books, media, physical & digital resources
See catalog results