Influence of Cancer Susceptibility Gene Mutations and ABO Blood Group of Pancreatic Cancer Probands on Concomitant Risk to First-Degree Relatives.
Influence of Cancer Susceptibility Gene Mutations and ABO Blood Group of Pancreatic Cancer Probands on Concomitant Risk to First-Degree Relatives.
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DOI：
10.1158/1055-9965.epi-21-0745
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发表时间：
2022-03
期刊：
影响因子：
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通讯作者：
Petersen GM
中科院分区：
文献类型：
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作者：
Antwi SO;Rabe KG;Bamlet WR;Meyer M;Chandra S;Fagan SE;Hu C;Couch FJ;McWilliams RR;Oberg AL;Petersen GM
ABO血型与胰腺癌（PC）风险相关。目前尚不清楚是否ABO血型单独或结合遗传突变状态的指数PC病例（先证）可以提高一级亲属（fdr）的PC风险估计。我们根据先证者的血型和先证者的癌症易感基因突变状态来检测fdr患PC的风险。通过3268个PC先证者，分析了23739个fdr的数据。先证者的ABO血型通过血清学或遗传学检测确定，并利用20个易感基因将先证者分为“突变阳性”或“突变阴性”。计算SIRs和95% ci，将fdr中观察到的PC病例与SEER-21（参考人群）的预期数量进行比较。总的来说，fdr有2倍的PC风险（SIR=2.00, 95%CI=1.79-2.22）。突变阳性的fdr （SIR=3.80, 95%CI=2.81 ~ 5.02）比突变阴性的fdr （SIR=1.79, 95%CI=1.57 ~ 2.04）患PC的风险高（p<0.001）。单独的ABO血型没有差异（SIRblood-group-O=1.57, 95%CI=1.20-2.03, SIRnon-O=1.83, 95%CI=1.53-2.17;p=0.33）。在非O型血先知者的fdr中，突变阳性先知者（SIR=3.98, 95%CI=2.62 ~ 5.80）的PC风险高于突变阴性先知者（SIR=1.66, 95%CI=1.35 ~ 2.03） （p< 0.001），而O型血先知者（simutation -positive=2.65, 95%CI=1.09 ~ 5.47, 95%CI= 1.48, 95%CI=1.06 ~ 5.47, p=0.16）的风险大小具有统计学意义。根据先证者的种系突变状态和ABO血型，先证者的PC风险范围从突变阴性的O型血先证者的fdr为1.48到突变阳性的非O型血先证者的fdr为3.98不等。
ABO blood group is associated with pancreatic cancer (PC) risk. Whether ABO blood group alone or when combined with inherited mutation status of index PC cases (probands) can enhance PC risk estimation in first-degree relatives (FDRs) is unclear. We examined FDRs’ risk for PC based on probands’ blood group and probands’ cancer susceptibility gene mutation status. Data on 23,739 FDRs, identified through 3,268 PC probands, were analyzed. Probands’ ABO blood groups were determined serologically or genetically, and 20 susceptibility genes were used to classify probands as “mutation-positive” or “mutation-negative.” SIRs and 95% CIs were calculated, comparing observed PC cases in the FDRs to the number expected in SEER-21 (reference population). Overall, FDRs had two-fold risk of PC (SIR=2.00, 95%CI=1.79-2.22). PC risk was higher in FDRs of mutation-positive (SIR=3.80, 95%CI=2.81-5.02) than mutation-negative (SIR=1.79, 95%CI=1.57-2.04) probands (p<0.001). Risk magnitudes did not differ by ABO blood group alone (SIRblood-group-O=1.57, 95%CI=1.20-2.03, SIRnon-O=1.83, 95%CI=1.53-2.17;p=0.33). Among FDRs of probands with non-O blood group, PC risk was higher in FDRs of mutation-positive (SIR=3.98, 95%CI=2.62-5.80) than mutation-negative (SIR=1.66, 95%CI=1.35-2.03) probands (p<.001), but risk magnitudes were statistically similar when probands had blood group O (SIRmutation-positive=2.65, 95%CI=1.09-5.47, SIRmutation-negative=1.48, 95%CI=1.06-5.47;p=0.16). There is a range of PC risk to FDRs according to probands’ germline mutation status and ABO blood group, ranging from 1.48 for FDRs of probands with blood group O and mutation-negative to 3.98 for FDRs of probands with non-O blood group and mutation-positive.