title: Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.
abstract: Carriers of mutations in the melanoma susceptibility gene, CDKN2A, exhibit a higher than expected risk of breast cancer. In this study, we aimed to determine mutations in the CDKN2A gene in patients with melanoma and additional breast cancer. Thirty-one women with histologically confirmed melanoma and breast cancer were studied for CDKN2A/ARF gene mutations by direct sequencing analysis. We identified four CDKN2A germline mutations. Two patients harbored the A148T polymorphism, one of them with family history of breast cancer. Another patient, with a melanoma diagnosed at 77 years, a breast cancer diagnosed at 66 and a family history of melanoma, had the V59G mutation. The fourth patient had a melanoma diagnosed at 54 years, a breast cancer at 46, and a strong family history of breast cancer (mother and grandmother), and presented the A85T mutation. The epidemiologic link between cutaneous melanoma and breast cancer is not mainly related to CDKN2A mutations. However, some mutations might have a role in this association or even in familial breast cancer, as it could be inferred from the patient with the A85T mutation.
authors: Department of Dermatology, Instituto Valenciano de Oncologia, C/ Profesor Beltran Baguena, 8, Valencia 46009, Spain. eduyame@meditex.es
authors: Eduardo
authors: E
authors: Nagore
authors: Alegria
authors: A
authors: Montoro
authors: Zaida
authors: Z
authors: García-Casado
authors: Rafael
authors: R
authors: Botella-Estrada
authors: Amelia
authors: A
authors: Insa
authors: Ana
authors: A
authors: Lluch
authors: José A
authors: JA
authors: López-Guerrero
authors: Carlos
authors: C
authors: Guillén
mesh_terms: D020727:ADP-Ribosylation Factors / Q000235:genetics; D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*; D013030:Spain
chemical_list: D020727:ADP-Ribosylation Factors