MRC Clinical Trials Unit at UCL, Institute of Clinical Trials and Methodology, University College London, London, UK.
Wolfson Institute of Population Health, Barts CRUK Cancer Centre, Queen Mary University of London, London, UK.
BJOG. 2022 Nov;129(12):1970-1980. doi: 10.1111/1471-0528.17253. Epub 2022 Jul 13.
Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breast & ovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population-based BRCA testing on lifestyle behaviour and cancer risk perception.
Two-arm randomised controlled trials (ISRCTN73338115, GCaPPS): (a) population-screening (PS); (b) family history (FH)/clinical criteria testing.
North London AJ-population.
POPULATION/SAMPLE: AJ women/men >18 years.
prior BRCA testing or first-degree relatives of BRCA-carriers.
Participants were recruited through self-referral. All participants received informed pre-test genetic counselling. The intervention included genetic testing for three AJ BRCA-mutations: 185delAG(c.68_69delAG), 5382insC(c.5266dupC) and 6174delT(c.5946delT). This was undertaken for all participants in the PS arm and participants fulfilling FH/clinical criteria in the FH arm. Patients filled out customised/validated questionnaires at baseline/1-year/2-year/3-year follow-ups. Generalised linear-mixed models adjusted for covariates and appropriate contrast tests were used for between-group/within-group analysis of lifestyle and behavioural outcomes along with evaluating factors associated with these outcomes. Outcomes are adjusted for multiple testing (Bonferroni method), with P < 0.0039 considered significant.
Lifestyle/behavioural outcomes at baseline/1-year/2-year/3-year follow-ups.
1034 participants were randomised to PS (n = 530) or FH (n = 504) arms. No significant difference was identified between PS- and FH-based BRCA testing approaches in terms of dietary fruit/vegetable/meat consumption, vitamin intake, alcohol quantity/ frequency, smoking behaviour (frequency/cessation), physical activity/exercise or routine breast mammogram screening behaviour, with outcomes not affected by BRCA test result. Cancer risk perception decreased with time following BRCA testing, with no difference between FH/PS approaches, and the perception of risk was lowest in BRCA-negative participants. Men consumed fewer fruits/vegetables/vitamins and more meat/alcohol than women (P < 0.001).
Population-based and FH-based AJ BRCA testing have similar long-term lifestyle impacts on smoking, alcohol, dietary fruit/vegetable/meat/vitamin, exercise, breast screening participation and reduced cancer risk perception.
阿什肯纳兹犹太人（AJ）人群的 BRCA 检测是可以接受的，具有成本效益，并增强了乳腺癌和卵巢癌的一级预防。然而，缺乏描述生活方式影响的数据。我们报告了基于人群的 BRCA 检测对生活方式行为和癌症风险认知的长期结果。
两臂随机对照试验（ISRCTN73338115、GCaPPS）：（a）人群筛查（PS）；（b）家族史（FH）/临床标准检测。
北伦敦 AJ 人群。
人群/样本：年龄>18 岁的 AJ 女性/男性。
先前的 BRCA 检测或 BRCA 携带者的一级亲属。
通过自我推荐招募参与者。所有参与者都接受了遗传咨询。干预措施包括对三种 AJ BRCA 突变进行基因检测：185delAG（c.68_69delAG）、5382insC（c.5266dupC）和 6174delT（c.5946delT）。PS 组的所有参与者和 FH 组符合 FH/临床标准的参与者都接受了这项检测。患者在基线、1 年、2 年和 3 年随访时填写了定制/验证的问卷。使用广义线性混合模型调整协变量和适当的对比检验，对生活方式和行为结果进行组间/组内分析，并评估与这些结果相关的因素。结果经过多次检验校正（Bonferroni 方法），P<0.0039 被认为具有统计学意义。
基线、1 年、2 年和 3 年随访时的生活方式/行为结果。
1034 名参与者被随机分配到 PS（n=530）或 FH（n=504）组。PS 和 FH 基于 BRCA 检测方法在饮食中水果/蔬菜/肉类摄入、维生素摄入、酒精量/频率、吸烟行为（频率/戒烟）、体力活动/运动或常规乳房 X 光筛查行为方面没有显著差异，BRCA 检测结果对结果没有影响。BRCA 检测后，癌症风险认知随时间下降，FH/PS 方法之间没有差异，BRCA 阴性参与者的风险认知最低。男性摄入的水果/蔬菜/维生素少于女性，摄入的肉类/酒精多于女性（P<0.001）。
基于人群和 FH 的 AJ BRCA 检测对吸烟、饮酒、饮食中水果/蔬菜/肉类/维生素、运动、乳房筛查参与度以及降低癌症风险认知具有相似的长期生活方式影响。
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