Ling Liu

TL;DR: It is reported that a subset of children with medulloblastoma carry germline and somatic mutations in SUFU (encoding the human suppressor of fused) of the SHH pathway, accompanied by loss of heterozygosity of the wildtype allele.

TL;DR: It is shown here that a subset of these kindreds possess a G→T transversion at base –34 of CDKN2A, designated G–34T, which gives rise to a novel AUG translation initiation codon that decreases translation from the wild-type AUG.

TL;DR: The presence of multiple primary melanomas but without family histories of the disease have germ-line mutations of the CDKN2A gene, which may signal a genetic susceptibility to melanoma not only in the index patient but also in family members, who may benefit from melanoma-surveillance programs.

TL;DR: Hereditary pancreatic carcinoma shows extant phenotypic and genotypic heterogeneity as evidenced by its integral association with a variety of hereditary cancer syndromes inclusive of the familial atypical multiple mole melanoma (FAMMM), in concert with CDKN2A (p16) germline mutations.

TL;DR: Factors indicating genetic susceptibility to melanoma, in particular, the propensity to develop nevi and freckles, red hair, blue eyes, inability to tan and a family history of the disease are the primary determinants of melanoma among adolescents in this high solar radiation environment.