Familial melanoma and its management

2003 ◽  
pp. 377-384
Keyword(s):  
Familial Melanoma

Precursor lesions in familial melanoma

1979 ◽  
Vol 63 (1) ◽  
pp. 145 ◽  
Author(s):  
Errikos Constant ◽  
R. R. Reimer
Keyword(s):  
Precursor Lesions ◽  
Familial Melanoma

scholarly journals Selection criteria for genetic assessment of patients with familial melanoma

2009 ◽  
Vol 61 (4) ◽  
pp. 677.e1-677.e14 ◽  
Author(s):  
Sancy A. Leachman ◽  
John Carucci ◽  
Wendy Kohlmann ◽  
Kimberly C. Banks ◽  
Maryam M. Asgari ◽  
...  
Keyword(s):  
Selection Criteria ◽  
Familial Melanoma ◽  
Genetic Assessment

Linkage analysis in familial melanoma kindreds to markers on chromosome 6p

1994 ◽  
Vol 59 (6) ◽  
pp. 771-775 ◽  
Author(s):  
Graeme J. Walker ◽  
Derek J. Nancarrow ◽  
Marilyn K. Walters ◽  
Jane M. Palmer ◽  
James L. Weber ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Familial Melanoma ◽  
Chromosome 6P

scholarly journals Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

2019 ◽  
Vol 155 (5) ◽  
pp. 604 ◽  
Author(s):  
Kim Wong ◽  
Carla Daniela Robles-Espinoza ◽  
David Rodriguez ◽  
Saskia S. Rudat ◽  
Susana Puig ◽  
...  
Keyword(s):  
Missense Variant ◽  
Familial Melanoma

scholarly journals Germline TERT promoter mutations are rare in familial melanoma

2015 ◽  
Vol 15 (1) ◽  
pp. 139-144 ◽  
Author(s):  
Mark Harland ◽  
Mia Petljak ◽  
Carla Daniela Robles-Espinoza ◽  
Zhihao Ding ◽  
Nelleke A. Gruis ◽  
...  
Keyword(s):  
Familial Melanoma ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals NEK11 as a candidate high-penetrance melanoma susceptibility gene

2019 ◽  
Vol 57 (3) ◽  
pp. 203-210 ◽  
Author(s):  
Eirini Christodoulou ◽  
Remco van Doorn ◽  
Mijke Visser ◽  
Amina Teunisse ◽  
Mieke Versluis ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Positive Family History ◽  
Susceptibility Gene ◽  
Cell Cycle Checkpoint ◽  
Pcr Analysis ◽  
Loss Of Function ◽  
M Cell ◽  
Familial Melanoma ◽  
Dutch Family

BackgroundA proportion of patients diagnosed with cutaneous melanoma reports a positive family history. Inherited variants in CDKN2A and several other genes have been shown to predispose to melanoma; however, the genetic basis of familial melanoma remains unknown in most cases. The objective of this study was to provide insight into the genetic basis of familial melanoma.MethodsIn order to identify novel melanoma susceptibility genes, whole exome sequencing (WES) analysis was applied in a Dutch family with melanoma. The causality of a candidate variant was characterised by performing cosegregation analysis in five affected family members using patient-derived tissues and digital droplet PCR analysis to accurately quantify mutant allele frequency. Functional in-vitro studies were performed to assess the pathogenicity of the candidate variant.ResultsApplication of WES identified a rare, nonsense variant in the NEK11 gene (c.1120C>T, p.Arg374Ter), cosegregating in all five affected members of a Dutch family. NEK11 (NIMA-related Kinase 11) is involved in the DNA damage response, enforcing the G2/M cell cycle checkpoint. In a melanoma from a variant carrier, somatic loss of the wildtype allele of this putative tumour suppressor gene was demonstrated. Functional analyses showed that the NEK11 p.Arg374Ter mutation results in strongly reduced expression of the truncated protein caused by proteasomal degradation.ConclusionThe NEK11 p.Arg374Ter variant identified in this family leads to loss-of-function through protein instability. Collectively, these findings support NEK11 as a melanoma susceptibility gene.

Sign in / Sign up

Export Citation Format

Share Document