Genetic susceptibility to primary @entity320 (PCM) may account for up to 12% of PCMs, presenting as the @entity6349 ( @entity6349 ), an @entity74 with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same @entity1 . To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance @entity6349 susceptibility genes, @entity986 ( @entity986 ) and @entity8985 ( @entity8985 ), to 92 consecutive, unrelated @entity1 with @entity6349 . Age at diagnosis and number of PCMs were obtained from medical records; the number of PCMs and affected relatives were recorded for each family. The diagnostic work-up consisted of genetic counselling and cascade genetic testing in @entity1 and further extension to relatives of those identified as mutation carriers. All exons and exon/intron boundaries of @entity986 and @entity8985 genes were screened by direct bidirectional sequencing. We identified @entity986 mutations in 19 of the 92 unrelated @entity1 (20.6%) and in 14 additional, clinically healthy relatives. Eleven of these latter subsequently underwent excision of @entity6349 , but none developed PCM during a median follow-up of 37.3 months. In three @entity1 from unrelated families, the novel @entity986 @entity69072 ( @entity69073 ) mutation was observed, associated with PCM in each pedigree. Genetic screening of @entity6349 @entity1 and their relatives can contribute towards specific primary and secondary prevention programmes for individuals at high genetic risk of PCM. The novel @entity986 @entity69072 ( @entity69073 ) mutation adds to the known mutations associated with @entity6349 .

Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel @entity986 XXXX ( @entity69073 ) mutation in @entity320 -prone families from Italy.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity320 :: ('MESH:D008545', 'Disease') :: ['cutaneous melanoma'] @entity986 :: ('1029', 'Gene') :: ['cyclin-dependent kinase inhibitor 2A', 'CDKN2A'] @entity8985 :: ('1019', 'Gene') :: ['cyclin-dependent kinase 4', 'CDK4'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant condition'] @entity69072 :: ('p|SUB|D|84|V', 'ProteinMutation') :: ['p.D84V'] @entity69073 :: ('c|SUB|A|251|T', 'DNAMutation') :: ['c.251A>T'] @entity6349 :: ('MESH:D004416', 'Disease') :: ['dysplastic nevi', 'familial atypical mole/multiple melanoma syndrome', 'FAMMM']
@entity69072 :: (p|SUB|D|84|V,ProteinMutation) :: ['p.D84V']
