title: A rare case of familial multiple subcutaneous lipomatosis with novel PALB2 mutation and increased predilection to cancers.
abstract: We describe the association of familial multiple subcutaneous lipomatosis with a PALB2 gene mutation (c.2716delT) and its increased predilection to cancers.
authors: Department of Medical Oncology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India.
authors: Neelesh
authors: N
authors: Reddy
authors: Department of Medical Oncology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India. Electronic address: brmp1981@gmail.com.
authors: Baswantrao
authors: B
authors: Malipatil
authors: Department of Clinical Hematology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India.
authors: Satish
authors: S
authors: Kumar
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D040521:Subcutaneous Tissue / Q000473:pathology*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins
keywords: Cancer; Familial multiple subcutaneous lipomatosis; PALB2