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Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.
Melanoma Res 2009; 19(4):211-4MR

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+Show Affiliations

Department of Dermatology, Instituto Valenciano de Oncologia, C/ Profesor Beltran Baguena, 8, Valencia 46009, Spain. eduyame@meditex.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19571771

Citation

Nagore, Eduardo, et al. "Germline Mutations in CDKN2A Are Infrequent in Female Patients With Melanoma and Breast Cancer." Melanoma Research, vol. 19, no. 4, 2009, pp. 211-4.
Nagore E, Montoro A, García-Casado Z, et al. Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. Melanoma Res. 2009;19(4):211-4.
Nagore, E., Montoro, A., García-Casado, Z., Botella-Estrada, R., Insa, A., Lluch, A., ... Guillén, C. (2009). Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. Melanoma Research, 19(4), pp. 211-4. doi:10.1097/CMR.0b013e3283281057.
Nagore E, et al. Germline Mutations in CDKN2A Are Infrequent in Female Patients With Melanoma and Breast Cancer. Melanoma Res. 2009;19(4):211-4. PubMed PMID: 19571771.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. AU - Nagore,Eduardo, AU - Montoro,Alegria, AU - García-Casado,Zaida, AU - Botella-Estrada,Rafael, AU - Insa,Amelia, AU - Lluch,Ana, AU - López-Guerrero,José A, AU - Guillén,Carlos, PY - 2009/7/3/entrez PY - 2009/7/3/pubmed PY - 2009/10/16/medline SP - 211 EP - 4 JF - Melanoma research JO - Melanoma Res. VL - 19 IS - 4 N2 - 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. SN - 1473-5636 UR - https://www.unboundmedicine.com/medline/citation/19571771/Germline_mutations_in_CDKN2A_are_infrequent_in_female_patients_with_melanoma_and_breast_cancer_ L2 - http://Insights.ovid.com/pubmed?pmid=19571771 DB - PRIME DP - Unbound Medicine ER -