Dataset Information

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

ABSTRACT: Women carriers of pathogenic variants (mutations) in the BRCA1/2 genes face a high lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). However, metabolic factors may influence BRCA penetrance. We studied the association of metabolic factors with BRCA1/2 variants and the risk effect of metabolic exposures in relation to the position of the mutations within the BRCA1/2. Overall, 438 women carriers of BRCA1/2 mutations, aged 18-70, with or without a previous diagnosis of BC/OC and without metastases, who joined our randomized dietary trial, were included in the study. The pathogenic variants were divided, according to their predicted effect, into loss of function (LOF) and nonsynonymous variants. The association between metabolic exposures and variants were analyzed by a logistic regression model. LOF variant carriers showed higher levels of metabolic parameters compared to carriers of nonsynonymous variants. LOF variant carriers had significantly higher levels of plasma glucose and serum insulin than nonsynonymous variant carriers (p = 0.03 and p < 0.001, respectively). This study suggests that higher insulin levels are significantly associated with LOF variants. Further investigations are required to explore the association of metabolic factors with LOF variants and the mechanisms by which these factors may affect BRCA-related cancer risk.

SUBMITTER: Oliverio A

PROVIDER: S-EPMC7761428 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

Oliverio Andreina A Bruno Eleonora E Colombo Mara M Paradiso Angelo A Tommasi Stefania S Daniele Antonella A Terribile Daniela Andreina DA Magno Stefano S Guarino Donatella D Manoukian Siranoush S Peissel Bernard B Radice Paolo P Pasanisi Patrizia P

Cancers 20201130 12

Women carriers of pathogenic variants (mutations) in the BRCA1/2 genes face a high lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). However, metabolic factors may influence BRCA penetrance. We studied the association of metabolic factors with BRCA1/2 variants and the risk effect of metabolic exposures in relation to the position of the mutations within the BRCA1/2. Overall, 438 women carriers of BRCA1/2 mutations, aged 18-70, with or without ...[more]

PMID: 33266155

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Project description:BackgroundFemale BRCA1 and BRCA2 mutation carriers have an increased lifetime risk of developing breast and/or ovarian cancer. Hence, they face the difficult decision of choosing a preventive strategy such as risk-reducing surgeries or intensified breast screening. To help these women during their decision process, several patient decision aids (DA) were developed and evaluated in the last 15?years. Until now, there is no conclusive evidence on the effectiveness of these DA. This study aims 1) to provide the first systematic literature review about DA addressing preventive strategy decisions for female BRCA1 and BRCA2 mutation carriers, 2) to analyze the quality of the existing evidence, 3) to evaluate the effects of DA on decision and information related outcomes, on the actual choice for preventive measure and on health outcomes.MethodsA systematic literature review was conducted using six electronic databases (inclusion criteria: DA addressing preventive strategies, female BRCA1 and BRCA2 mutation carriers, 18 to 75?years, knowledge of test result). The quality of the included randomized controlled trials (RCT) was evaluated with the Cochrane Collaboration's risk of bias tool. The quality of included one-group pretest-posttest design studies was evaluated with the ROBINS-I tool. Outcomes of included studies were extracted and qualitatively summarized.ResultsA total of 2093 records were identified. Six studies were included for further evaluation (5 RCT, 1 one-group pretest-posttest design study). One RCT was formally included, but data presentation did not allow for further analyses. The risk of bias was high in three RCT and unclear in one RCT. The risk of bias in the one-group pretest-posttest study was serious. The outcome assessment showed that the main advantages of DA are linked to the actual decision process: Female BRCA1 and BRCA2 mutation carriers using a DA had less decisional conflict, were more likely to reach a decision and were more satisfied with their decision.ConclusionsDecision aids can support female BRCA1 and BRCA2 mutation carriers during their decision process by significantly improving decision related outcomes. More high-quality evidence is needed to evaluate possible effects on information related outcomes, health outcomes and the actual choice for preventive measures.

Dataset Information

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

Publications

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

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