Melanoma-Predisposing CDKN2A Mutations in Association with Breast Cancer: A Case-Study and Review of the Literature

Management of the Case of a Young Female Patient with Multiple Malignancies and Germline R24P CDKN2A Gene Mutation

“…The genetic profiling of the patient and her parents was carried out. No BRCA1 or BRCA2 mutations were detected, however, the mutation of the CDKN2A gene [6][7][8] was verified in the patient and her father as described in detail previously [5]. The CDKN2A gene located on chromosome 9p21 has been identified as a susceptibility gene for familial melanoma and less frequently for pancreatic cancer [7][8][9][10][11].…”

“…The diagnosis of each primary malignancy was carefully obtained using various imaging and pathological methods as described in detail previously [5]. Each malignancy was managed according to its actual stage and pathological features.…”

“…Genetic analysis revealed that both the patient and her father carried a R24P CDKN2A germline mutation in a heterozygote form. At the same time, the presence of hotspot BRCA1 and BRCA2 mutations was excluded by sequencing [5].…”

“…No sentinel lymph node biopsy was carried out. Since the patient reported multiple cancer cases in her father's family (her father suffered from laryngeal and gastric carcinoma, her aunt deceased due to breast cancer at a young age), genetic tests were carried out as described previously [5]. Genetic analysis revealed that both the patient and her father carried a R24P CDKN2A germline mutation in a heterozygote form.…”