Characterization of patients with a diagnosis of breast cancer and melanoma: genetic susceptibility or increased surveillance?

Eur J Cancer Prev. 2023 Sep 1;32(5):418-422. doi: 10.1097/CEJ.0000000000000792. Epub 2023 Mar 13.

Abstract

Background: Breast cancer diagnosis had been linked to an increased risk of melanoma in several reports. The aim of the current study was to assess the role of genetics, increased surveillance, and radiation treatment in patients with a dual diagnosis of breast cancer and melanoma (DBM).

Materials and methods: All patients treated at Sheba Medical Center between 2007 and 2021 with DBM were included in the cohort. Data on family history, genetic tests, characteristics, and treatment of both cancers were collected. The proportion of patients with a pathogenic variant (PV) in BRCA1 and BRCA2 genes was compared to a control group of patients with breast cancer. The proportion of patients presenting with in-situ disease was compared to the national registry data.

Results: The cohort included 222 DBM patients of whom 114 had documentation of genetic testing. Twenty patients tested positive for PVs of which 13 (11%) were in BRCA genes. This was comparable to the proportion in patients with a diagnosis of breast cancer (736; 19%). The proportion of melanoma diagnosed at stage 0 was comparable to the national proportion ( N = 40; 30% vs. 28%, respectively). In comparison to the national registry, a larger proportion of breast cancers were ductal carcinoma in situ or lobular carcinoma in situ [10% in the registry vs. 19% (22) in the cohort; P < 0.003].

Conclusions: In patients with DBM we did not find an increased proportion of PVs in BRCA genes. Our findings suggest that the increased standardized incidence ratio of the dual diagnosis may be partially explained by increased surveillance and detection of earlier-stage cancers.

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / epidemiology
  • Breast Neoplasms* / genetics
  • Female
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Melanoma* / diagnosis
  • Melanoma* / epidemiology
  • Melanoma* / genetics
  • Mutation

Substances

  • BRCA1 Protein
  • BRCA2 Protein