Open AccessTwo synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germline BRCA2 mutation
Author(s) -
Anson Snow,
Charité Ricker,
Gino K. In
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-227625
Subject(s) - medicine , germline , germline mutation , renal cell carcinoma , mutation , melanoma , ovarian cancer , cancer , oncology , cancer research , etiology , breast cancer , genetics , gene , biology
Modernised genetic testing among patients with cancer has led to an increasing wealth of knowledge regarding cancer biology and aetiology. Furthermore, some germline mutations have the potential to direct therapeutic approaches as well. While BRCA1/2 mutations are well-established risk factors for breast and ovarian cancers, their impact on other cancers is less understood. We describe a patient with a germline BRCA2 mutation who developed synchronous melanoma and renal cell carcinoma, but responded well to treatment and is now cancer free.