Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers

• Published in: Familial cancer Vol. 14; no. 2; pp. 297 - 306
• Main Authors: Wei, Chongjuan, Peng, Bo, Han, Younghun, Chen, Wei V., Rother, Joshua, Tomlinson, Gail E., Boland, C. Richard, Chaussabel, Marc, Frazier, Marsha L., Amos, Christopher I.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.06.2015; Springer Nature B.V
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adolescent; Adult; Aged; Aged, 80 and over; Biomedical and Life Sciences; Biomedicine; Cancer Research; Epidemiology; Female; Genetic Linkage; Genetic Predisposition to Disease; Heterogeneous-Nuclear Ribonucleoproteins - genetics; Human Genetics; Humans; Male; Middle Aged; Mutation; Neoplasms - genetics; Original Article; Polymorphism, Single Nucleotide; Repressor Proteins - genetics; Expression analysis; Colon cancer; Complex disease; Whole genome sequencing; Prostate cancer; Linkage analysis

We studied a large family that presented a strong familial susceptibility to multiple early onset cancers including prostate, breast, colon, and several other uncommon cancers. Through targeted gene, linkage, and whole genome sequencing analyses, we show that the presence of a variant in the regulat...