Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes.
Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes.
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胰腺导管癌风险与遗传性癌症风险基因相关
DOI：
10.1093/jnci/djac069
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发表时间：
2022-07-11
期刊：
影响因子：
--
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中科院分区：
文献类型：
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虽然一些遗传性癌症易感基因与胰腺导管腺癌(PDAC)的易感性有关，但由于先前研究的设计，基因特异性风险并没有很好地确定，而且可能存在偏见。更准确和公正的风险估计可以导致筛查和预防更好地适应基因研究结果。这是一项对676名 667人的回顾性分析，其中2,445人被个人诊断为PDAC，他们在2013年至2020年期间接受了单一实验室的多基因小组检测。临床数据从测试申请表中获得。多变量Logistic回归模型以调整后的优势比(OR)和95%的可信区间(CI)来确定各种基因的致病变异(PV)导致的PDAC风险增加。多变量优势比根据年龄、个人和/或家族癌症病史和血统进行了调整。总体而言，11.1%的PDAC患者有PV。统计学上显著增加的动脉导管未闭风险(双侧P <；CDK2NA(P16INK4a)(OR=8.69，95%CI=4.69~16.12)、ATM(OR=3.44，95%CI=2.58~4.60)、MSH2(OR=3.17，95%CI=1.70~5.91)、PALB2(OR=3.09，95%CI=2.02~4.74)、BRCA2(OR=2.55，95%CI=1.99~3.27)和BRCA1(OR=1.62， =0.05)。95%CI=1.07~2.43)。这项研究为遗传性癌症风险的多基因小组测试中常见的6个基因提供了PDAC风险估计。这些估计值低于以前的研究，可能是因为对家族史进行了调整，并支持目前对所有PDAC患者进行生殖系测试的建议，而不考虑个人或家族癌症病史。
Although several hereditary cancer predisposition genes have been implicated in pancreatic ductal adenocarcinoma (PDAC) susceptibility, gene-specific risks are not well defined and are potentially biased because of the design of previous studies. More precise and unbiased risk estimates can result in screening and prevention better tailored to genetic findings. This is a retrospective analysis of 676 667 individuals, 2445 of whom had a personal diagnosis of PDAC, who received multigene panel testing between 2013 and 2020 from a single laboratory. Clinical data were obtained from test requisition forms. Multivariable logistic regression models determined the increased risk of PDAC because of pathogenic variants (PVs) in various genes as adjusted odds ratios (ORs) with 95% confidence intervals (CIs). Multivariable odds ratios were adjusted for age, personal and/or family cancer history, and ancestry. Overall, 11.1% of patients with PDAC had a PV. Statistically significantly elevated PDAC risk (2-sided P < .05) was observed for CDK2NA (p16INK4a) (OR = 8.69, 95% CI = 4.69 to 16.12), ATM (OR = 3.44, 95% CI = 2.58 to 4.60), MSH2 (OR = 3.17, 95% CI = 1.70 to 5.91), PALB2 (OR = 3.09, 95% CI = 2.02 to 4.74), BRCA2 (OR = 2.55, 95% CI = 1.99 to 3.27), and BRCA1 (OR = 1.62, 95% CI = 1.07 to 2.43). This study provides PDAC risk estimates for 6 genes commonly included in multigene panel testing for hereditary cancer risk. These estimates are lower than those from previous studies, possibly because of adjustment for family history, and support current recommendations for germline testing in all PDAC patients, regardless of a personal or family history of cancer.
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影响因子：
24.5
作者：
Møller P;Seppälä TT;Bernstein I;Holinski-Feder E;Sala P;Gareth Evans D;Lindblom A;Macrae F;Blanco I;Sijmons RH;Jeffries J;Vasen HFA;Burn J;Nakken S;Hovig E;Rødland EA;Tharmaratnam K;de Vos Tot Nederveen Cappel WH;Hill J;Wijnen JT;Jenkins MA;Green K;Lalloo F;Sunde L;Mints M;Bertario L;Pineda M;Navarro M;Morak M;Renkonen-Sinisalo L;Valentin MD;Frayling IM;Plazzer JP;Pylvanainen K;Genuardi M;Mecklin JP;Moeslein G;Sampson JR;Capella G;Mallorca Group
通讯作者：
Mallorca Group
DOI：
10.1001/jama.2018.6228
发表时间：
2018-06-19
期刊：
JAMA
影响因子：
--
作者：
Hu C;Hart SN;Polley EC;Gnanaolivu R;Shimelis H;Lee KY;Lilyquist J;Na J;Moore R;Antwi SO;Bamlet WR;Chaffee KG;DiCarlo J;Wu Z;Samara R;Kasi PM;McWilliams RR;Petersen GM;Couch FJ
通讯作者：
Couch FJ
DOI：
10.1158/1055-9965.epi-15-0455
发表时间：
2016-01
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Hu C;Hart SN;Bamlet WR;Moore RM;Nandakumar K;Eckloff BW;Lee YK;Petersen GM;McWilliams RR;Couch FJ
通讯作者：
Couch FJ
影响因子：
4.6
作者：
Kurian, Allison W.;Hughes, Elisha;Hall, Michael J.
通讯作者：
Hall, Michael J.
DOI：
10.1038/ajg.2014.435
发表时间：
2015-02
期刊：
The American journal of gastroenterology
影响因子：
--
作者：
Syngal S;Brand RE;Church JM;Giardiello FM;Hampel HL;Burt RW;American College of Gastroenterology
通讯作者：
American College of Gastroenterology