Experimental Oncology and Biobank Management Unit - IRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy
Experimental Oncology and Biobank Management Unit - IRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy.
Cancer Genomics Proteomics. 2020 May-Jun;17(3):301-307. doi: 10.21873/cgp.20190.
Environmental factors may influence the lifetime risk of cancer (penetrance) in women with a BRCA mutation.
In 89 BRCA-mutant women, affected or unaffected by breast/ovarian cancer, we explored serum levels of adipokines and their relation with the polymorphism SNP276G>T as modulators of BRCA penetrance.
Affected women had significantly lower adiponectin than healthy women. Affected women with rs1501299 TT had significantly lower adiponectin and higher leptin than GT and GG genotypes. GT genotype was significantly associated with the disease status [odds ratio (OR)=3.24, 95% confidence interval (95% CI)=1.03-10.17]. Women in the lower tertile of serum adiponectin had a RR of BRCA-associated cancer of 2.80, 95% CI=1.1-7.1 (p for trend=0.03) compared with women in the higher tertile.
In the SNP rs1501299 the T allele was significantly associated with lower serum levels of adiponectin in affected women, suggesting that the T allele might be related to cancer.
环境因素可能会影响携带 BRCA 突变的女性的终生癌症风险（外显率）。
在 89 名携带 BRCA 突变的女性中，我们研究了受乳腺癌/卵巢癌影响或未受影响的女性的血清脂联素水平及其与 SNP276G>T 多态性作为 BRCA 外显率调节剂的关系。
受影响的女性的脂联素水平明显低于健康女性。携带 rs1501299 TT 基因型的受影响女性的脂联素水平明显较低，而瘦素水平较高。GT 基因型与疾病状态显著相关[比值比（OR）=3.24，95%置信区间（95%CI）=1.03-10.17]。与血清脂联素较高三分位的女性相比，血清脂联素较低三分位的女性患 BRCA 相关癌症的 RR 为 2.80，95%CI=1.1-7.1（趋势检验 p=0.03）。
在 SNP rs1501299 中，T 等位基因与受影响女性血清脂联素水平显著降低相关，提示 T 等位基因可能与癌症有关。
