Genetic risk transmission in a family affected by familial breast cancer

Brunella Pilato, Simona De Summa, Katia Danza, Rosanna Lacalamita, Rossana Lambo, Domenico Sambiasi, Angelo Paradiso, Stefania Tommasi

Research output: Contribution to journalArticlepeer-review


Breast Cancer is the most common malignancy among women. Family history is the strongest single predictor of breast cancer risk, and thus great attention has been focused on BRCA1 and BRCA2 genes whose mutations lead to a high risk of developing this disease. Today, only 25% of high- and moderate-risk genes are known, suggesting the importance of the discovery of new risk modifiers. Therefore, the investigation of new polygenic alterations is of great importance, especially if considered high- and moderate-risk variants. In this study, the transmission of BRCA1-2 polymorphisms in association with the transmission of polymorphisms in the genes NUMA1, CCND1, COX11, FGFR2, TNRC9 and SLC4A7 were examined in all members of a family with the BRCA2 c.6447-6448dup mutation. This is the first study about the transmission of high-risk polygenic variants in all members of a family with a strong history of breast cancer. The results about the possible polygenic variant associations that could increase and modify the risk suggested the importance to search new variants to better manage patients and their family members.

Original languageEnglish
Pages (from-to)51-53
Number of pages3
JournalJournal of Human Genetics
Issue number1
Publication statusPublished - Jan 2014


  • BRCA1
  • BRCA2
  • familial breast cancer
  • polygenic risk

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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