Literature DB >> 31227566

Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germline BRCA2 mutation.

Anson Snow1, Charite Ricker2, Gino K In3.   

Abstract

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. © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  genetics; oncology; skin cancer; urological cancer

Mesh:

Substances:

Year:  2019        PMID: 31227566      PMCID: PMC6605957          DOI: 10.1136/bcr-2018-227625

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  31 in total

1.  Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation.

Authors:  B Xu; M B Kastan
Journal:  Mol Cell Biol       Date:  2001-05       Impact factor: 4.272

2.  BRCA1 and BRCA2 protect against oxidative DNA damage converted into double-strand breaks during DNA replication.

Authors:  Ram Fridlich; Devi Annamalai; Rohini Roy; Giana Bernheim; Simon N Powell
Journal:  DNA Repair (Amst)       Date:  2015-03-17

3.  MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.

Authors:  Raksha Rao; Renelle Pointdujour-Lim; Arupa Ganguly; Carol L Shields
Journal:  Retin Cases Brief Rep       Date:  2018 Winter

4.  Cancer risks in BRCA2 mutation carriers.

Authors: 
Journal:  J Natl Cancer Inst       Date:  1999-08-04       Impact factor: 13.506

5.  Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.

Authors:  Vitaly Margulis; Jie Lin; Hushan Yang; Wei Wang; Christopher G Wood; Xifeng Wu
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2008-09       Impact factor: 4.254

6.  A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer.

Authors:  Kevin J McDonnell; Gregory T Gallanis; Kathleen A Heller; Marilena Melas; Gregory E Idos; Julie O Culver; Sue-Ellen Martin; David H Peng; Stephen B Gruber
Journal:  Cancer Genet       Date:  2015-12-22

Review 7.  Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target.

Authors:  Gaurav Goyal; Tiffany Fan; Peter Todd Silberstein
Journal:  Fam Cancer       Date:  2016-07       Impact factor: 2.375

8.  Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.

Authors:  Yuqiu Ge; Yunyan Wang; Wei Shao; Jing Jin; Mulong Du; Gaoxiang Ma; Haiyan Chu; Meilin Wang; Zhengdong Zhang
Journal:  Sci Rep       Date:  2016-09-16       Impact factor: 4.379

9.  The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers.

Authors:  Helen Cavanagh; Katherine M A Rogers
Journal:  Hered Cancer Clin Pract       Date:  2015-08-01       Impact factor: 2.857

10.  A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.

Authors:  Lauren G Aoude; Karin Wadt; Anders Bojesen; Dorthe Crüger; Ake Borg; Jeffrey M Trent; Kevin M Brown; Anne-Marie Gerdes; Göran Jönsson; Nicholas K Hayward
Journal:  PLoS One       Date:  2013-08-19       Impact factor: 3.240

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