BACKGROUND: The ability to identify individuals at increased risk of cancer is of immediate clinical relevance. Germline mutations in the CDKN2A locus, encoding the key tumor suppressor proteins p16/INK4A and p14/ARF, are frequently present in kindreds with hereditary cutaneous melanoma but have seldom been reported in families with genetic susceptibility to head and neck squamous cell carcinomas (HNSCC). METHODS: We report the pedigree of a patient with an unusually high incidence of HNSCC and melanomas. CDKN2A mutation analysis was performed with standard capillary sequencing and multiplex ligation-dependent probe amplification. RESULTS: A previously unreported germline CDKN2A mutation affecting only the p16/INK4A open reading frame, c.106delG (p.Ala36ArgfsX17), was detected in the proband. This mutation causes a premature termination codon. CONCLUSIONS: Our report emphasizes the need to consider germinal CDKN2A mutations in the differential diagnosis of familial HNSCC and the importance of awareness of these tumors in carriers of CDKN2A mutations.
BACKGROUND: The ability to identify individuals at increased risk of cancer is of immediate clinical relevance. Germline mutations in the CDKN2A locus, encoding the key tumor suppressor proteins p16/INK4A and p14/ARF, are frequently present in kindreds with hereditary cutaneous melanoma but have seldom been reported in families with genetic susceptibility to head and neck squamous cell carcinomas (HNSCC). METHODS: We report the pedigree of a patient with an unusually high incidence of HNSCC and melanomas. CDKN2A mutation analysis was performed with standard capillary sequencing and multiplex ligation-dependent probe amplification. RESULTS: A previously unreported germline CDKN2A mutation affecting only the p16/INK4A open reading frame, c.106delG (p.Ala36ArgfsX17), was detected in the proband. This mutation causes a premature termination codon. CONCLUSIONS: Our report emphasizes the need to consider germinal CDKN2A mutations in the differential diagnosis of familial HNSCC and the importance of awareness of these tumors in carriers of CDKN2A mutations.
Authors: Morgan A Gingerich; Joshua D Smith; Nicole L Michmerhuizen; Megan Ludwig; Samantha Devenport; Chloe Matovina; Chad Brenner; Steven B Chinn Journal: Head Neck Date: 2018-02-10 Impact factor: 3.147
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Authors: Sock Hoai Chan; Weng Khong Lim; Scott T Michalski; Jing Quan Lim; Nur Diana Binte Ishak; Marie Met-Domestici; Cedric Ng Chuan Young; Karen Vikstrom; Edward D Esplin; Jennifer Fulbright; Mei Kim Ang; Joseph Wee; Kesavan Sittampalam; Mohamad Farid; Stephen E Lincoln; Koji Itahana; Syafiq Abdullah; Bin Tean Teh; Joanne Ngeow Journal: NPJ Genom Med Date: 2016-06-01 Impact factor: 8.617
Authors: Ilda P Ribeiro; Francisco Marques; Leonor Barroso; Jorge Miguéis; Francisco Caramelo; André Santos; Maria J Julião; Joana B Melo; Isabel M Carreira Journal: Mol Cytogenet Date: 2017-04-11 Impact factor: 2.009
Authors: Joan Anton Puig-Butille; María José Escámez; Francisco Garcia-Garcia; Gemma Tell-Marti; Àngels Fabra; Lucía Martínez-Santamaría; Celia Badenas; Paula Aguilera; Marta Pevida; Joaquín Dopazo; Marcela del Río; Susana Puig Journal: Oncotarget Date: 2014-03-30