Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time. In the curr...

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Bibliographic Details
Published in:Breast cancer research and treatment 2010-12, Vol.124 (3), p.875-878
Main Authors: Pilato, Brunella, De Summa, Simona, Danza, Katia, Lambo, Rossana, Paradiso, Angelo, Tommasi, Stefania
Format: Article
Language:English
Subjects:
Adult
Analysis
Biological and medical sciences
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Brief Report
Cancer research
Development and progression
DNA Mutational Analysis
Female
Female genital diseases
Gene mutations
Genetic aspects
Genetic Predisposition to Disease
Genetics
Gynecology. Andrology. Obstetrics
Heredity
Heterozygote
Humans
Italy
Liver
Liver Neoplasms - genetics
Liver Neoplasms - secondary
Male
Mammary gland diseases
Medical sciences
Medicine
Medicine & Public Health
Metastasis
Middle Aged
Mutation
Oncology
Ovarian cancer
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Pedigree
Phenotype
Tumors
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Description
Summary:Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time. In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman who developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father, respectively. In this family all available members have been investigated. The concomitant presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-010-1125-3