Study Detail

TitleA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Study TypeOther
Abstract We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in som .. [more]
Description
Center NamedbGaP