Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-03

AUTHORS

Laura Cortesi, Daniela Turchetti, Chiara Bertoni, Tommaso Zanocco-Marani, Marco Vinceti, Chiara Silvestri, Massimo Federico, Vittorio Silingardi, Sergio Ferrari

ABSTRACT

Hereditary breast/ovarian cancer is a well-characterized clinical entity, largely attributed to the inheritance of BRCA1 or BRCA2 mutations. Among general population, the mutation's frequency of these genes is very low; therefore, the identification of two independent mutations in the same family is a rare event. This study reports the presence of two mutations, one in the BRCA1 and the second in the BRCA2 gene in an Italian Caucasian kindred. This family is composed of more than 250 individuals, spanning through five generations, among which endogamy was a common phenomenon. Considering the tumor spectrum, this family is characterized by a high incidence of different types of cancer. In our study, we considered only three out of seven family units for BRCA1 and BRCA2 analysis. In one of the family units, we found independent mutations of both BRCA genes. The BRCA1 mutation on exon 11 (3358T-->A) was identified originally in the index case and subsequently in 18 members of this family, whereas the same mutation was not detected in a related family member with male breast cancer. The male breast cancer patient led to the identification, through mutational analysis, of a new BRCA2 mutation (8756delA). This BRCA2 mutation was also found in the male breast cancer patient's daughter. The discovery of the BRCA2 mutation allowed us to alert the patient's daughter who, otherwise, could be falsely reassured since she had a negative BRCA1 test. More... »

PAGES

5200948

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200948

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200948

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015322150

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12673274


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