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1.
Stem Cell Res ; 53: 102364, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34087993

RESUMO

Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.


Assuntos
Neoplasias da Mama , Células-Tronco Pluripotentes Induzidas , Neoplasias Ovarianas , Proteína BRCA2/genética , Feminino , Efeito Fundador , Genes BRCA2 , Predisposição Genética para Doença , Humanos , Mutação , Portugal
2.
Stem Cell Res ; 52: 102242, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33631522

RESUMO

How BRCA1 germline mutations predispose to cancer remains poorly understood. Induced pluripotent stem cells (iPSCs) represent an emerging model to investigate the molecular mechanisms underlying malignant transformation in primary cells from individuals who are carriers of deleterious mutations in the BRCA1 gene. Here we report the generation and characterization of iPSC lines from a female donor harboring a germline c.3612delA mutation in the BRCA1 gene and her daughter who does not carry the mutation. Skin fibroblasts were reprogrammed using non-integrative Sendai virus and characterized for their pluripotent properties. These iPSCs are a valuable cellular model for personalized pre-clinical research in the context of BRCA1 mutant hereditary cancers.


Assuntos
Células-Tronco Pluripotentes Induzidas , Proteína BRCA1/genética , Feminino , Fibroblastos , Heterozigoto , Humanos , Mutação
3.
Health Place ; 16(5): 934-41, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20570547

RESUMO

This study investigated how recently arrived refugees acquired food in their local food neighbourhood. Ten African humanitarian migrants belonging to separate households were asked to keep a travel and food diary for one week. Participants' food neighbourhoods were mapped using online satellite pictures and direct observation. On average 78 food outlets were available within a 2km radius of participants' homes. Vegetable consumption was higher in participants who resided <1km from a major grocery retailer (p<0.05). Foods provided during migrant orientation events were the major opportunities where subjects were introduced to foods more typical of reported usual intake in the general sedentee Australian population. The initial 12 months of resettlement is a critical period for acculturation as participants stabilise food habits. While participants seemed not to live in food deserts, intakes of all food groups remained inferior to recommended levels suggesting physical proximity and implied in-store choice alone do not guarantee a healthy diet. Migrant orientation events may represent an important setting for education about suitable options for adopting new foods into diets.


Assuntos
Aculturação , Dieta/estatística & dados numéricos , Comportamento Alimentar/etnologia , Abastecimento de Alimentos , Refugiados , Adulto , África Subsaariana/etnologia , Austrália/epidemiologia , Dieta/etnologia , Registros de Dieta , Feminino , Nível de Saúde , Humanos , Masculino , Adulto Jovem
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