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家族性胰腺癌:哪些人应考虑进行基因检测?

Familial pancreatic cancer: who should be considered for genetic testing?

机构信息

Division of Surgical Oncology, Massachusetts General Hospital, and Harvard Medical School, Boston, MA, USA.

Department of General Surgery, Koc University Hospital, Istanbul, Turkey.

出版信息

Ir J Med Sci. 2022 Apr;191(2):641-650. doi: 10.1007/s11845-021-02572-9. Epub 2021 Mar 17.

Abstract

BACKGROUND

Determining how many female patients who underwent breast imaging meet the eligibility criteria for genetic testing for familial pancreatic cancer (FPC).

METHODS

A total of 42,904 patients seen at the Newton-Wellesley Hospital between 2007 and 2009 were retrospectively reviewed. The first four categories were based on pancreatic cancer-associated syndromes: (1) hereditary breast and ovarian cancer (HBOC), (2) Lynch syndrome (LS), (3) familial atypical multiple mole melanoma (FAMMM), and (4) family history of FPC (FH-FPC). PancPRO (5) and MelaPRO (6) categories were based on risk scores from Mendelian risk prediction tool.

RESULTS

Exactly 4445 of 42,904 patients were found to be in at least one of the six risk categories. About 5.7% of patients were classified as being at high risk for HBOC, 2.3% as being at high risk for LS, 0.1% as being at high risk for FAMMM, 0.1% as being at high risk for FH-FPC, 2.7% as being at high risk based on PancPRO, and 0.2% as being at high risk based on MelaPRO.

CONCLUSION

About 10.4% of the female patients were classified as being at high risk for FPC. This finding emphasizes the importance of applying criteria to the general population, in order to ensure that individuals with high risk are identified early.

摘要

背景

确定有多少接受乳房影像学检查的女性患者符合家族性胰腺癌(FPC)遗传检测的入选标准。

方法

回顾性分析了 2007 年至 2009 年在牛顿-韦尔斯利医院就诊的 42904 名患者。前四类基于胰腺癌相关综合征:(1)遗传性乳腺癌和卵巢癌(HBOC),(2)林奇综合征(LS),(3)家族性非典型多发性痣黑色素瘤(FAMMM),(4)FPC 家族史(FH-FPC)。PancPRO(5)和 MelaPRO(6)类别基于 Mendelian 风险预测工具的风险评分。

结果

在 42904 名患者中,有 4445 名患者至少符合 6 个风险类别中的一个。约 5.7%的患者被归类为 HBOC 高危人群,2.3%的患者被归类为 LS 高危人群,0.1%的患者被归类为 FAMMM 高危人群,0.1%的患者被归类为 FH-FPC 高危人群,2.7%的患者基于 PancPRO 被归类为高危人群,0.2%的患者基于 MelaPRO 被归类为高危人群。

结论

约 10.4%的女性患者被归类为 FPC 高危人群。这一发现强调了将标准应用于普通人群的重要性,以确保及早识别高风险个体。

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