Pioneering use of genetic analysis for CDH1 to identify candidates for prophylactic total gastrectomy to prevent hereditary diffuse gastric cancer.

Pioneering use of genetic analysis for CDH1 to identify candidates for prophylactic total gastrectomy to prevent hereditary diffuse gastric cancer.
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开创性地使用 CDH1 基因分析来确定预防性全胃切除术的候选者,以预防遗传性弥漫性胃癌。

DOI:
10.1136/egastro-2023-100017
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发表时间:
2023
期刊:
eGastroenterology
影响因子:
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通讯作者:
Harmon,JohnW
Harmon,JohnW
中科院分区:
--
文献类型:
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作者:
Mokhtari-Esbuie,Farzad;Szeglin,Bryan;Ravari,MohsenRouhani;Duncan,Mark;Harmon,JohnW

文献摘要

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在世界范围内,胃癌导致显著的发病率和死亡率。10%的胃癌患者有很强的家族史,CDH 1(E-cadherin)已被确定为导致遗传性弥漫性胃癌的关键基因。我们回顾了33篇关于预防性全胃切除术的文章,并评估了其结局和获益。CDH 1基因突变的家族可能受益于早期预防性全胃切除术。马克邓肯博士运用他作为一个高容量胃癌外科医生的经验,不仅治疗个别病人,但在一个家庭的几代病人。这种预防性全胃切除术的使用患者耐受性良好,并防止胃癌的未来发展。
Worldwide, gastric cancer results in significant morbidity and mortality. Ten per cent of patients with gastric cancer have a strong family history of the disease.CDH1(E-cadherin) has been identified as a key gene whose mutation leads to hereditary diffuse gastric cancer. We overviewed 33 articles with prophylactic total gastrectomy and assessed the outcomes and benefits. Families with mutations inCDH1may benefit from early prophylactic total gastrectomy. Dr Mark Duncan has applied his experience as a high-volume gastric cancer surgeon to treat not only individual patients, but several generations of patients within a family. This use of prophylactic total gastrectomy is well tolerated by patients and prevents the future development of gastric cancer.