title: Genetic risk transmission in a family affected by familial breast cancer.
abstract: 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.
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Brunella
authors.initials: B
authors.lastname: Pilato
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: De Summa
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Katia
authors.initials: K
authors.lastname: Danza
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Lacalamita
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Rossana
authors.initials: R
authors.lastname: Lambo
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Sambiasi
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Paradiso
authors.affiliation: IRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Tommasi
mesh_terms: D000328:Adult; D000483:Alleles; D034961:Antigens, Nuclear / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D001943:Breast Neoplasms / Q000151:congenital* / Q000235:genetics; D018797:Cell Cycle Proteins; D000079922:Copper Transport Proteins; D019938:Cyclin D1 / Q000235:genetics; D045222:Electron Transport Chain Complex Proteins; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006609:High Mobility Group Proteins; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009154:Mutation; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics; D015534:Trans-Activators
chemical_list: D034961:Antigens, Nuclear; D051017:Apoptosis Regulatory Proteins; C484188:COX11 protein, human; D018797:Cell Cycle Proteins; D000079922:Copper Transport Proteins; D045222:Electron Transport Chain Complex Proteins; D006609:High Mobility Group Proteins; D024101:Mitochondrial Proteins; C050045:NUMA1 protein, human; D034521:Nuclear Matrix-Associated Proteins; D011980:Receptors, Progesterone; C521752:TOX3 protein, human; D015534:Trans-Activators; D019938:Cyclin D1; D003576:Electron Transport Complex IV; D051497:Receptor, Fibroblast Growth Factor, Type 2