ATM germline variants and male breast cancer

被引：4

作者：

Cunha, Renato ^{[1
]}

Nejo, Priscila ^{[2
]}

Bento, Sandra ^{[3
]}

Vaz, Fatima ^{[3
]}

机构：

[1] Hosp Espirito Santo Evora EPE, Med Oncol Dept, Evora, Portugal

[2] Inst Portugues Oncol Lisboa Francisco Gentil EPE, Med Oncol Dept, Lisbon, Portugal

[3] Inst Portugues Oncol Lisboa Francisco Gentil EPE, Familial Canc Risk Clin, Lisbon, Portugal

来源：

BMJ CASE REPORTS | 2021年 / 14卷 / 01期

关键词：

Breast cancer; Genetic screening; counselling; Oncology; Genetics; MUTATIONS;

D O I：

10.1136/bcr-2020-238100

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in BRCA 1 and BRCA 2 genes. ATM pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating ATM mutations and male breast cancer have been previously reported. Therefore, risk estimates and surveillance recommendations are not well established. We report a case of a male patient with breast cancer found to be heterozygous for a pathogenic ATM variant after multigene testing. We also review the literature regarding increased cancer risk associated with ATM germline variants, with emphasis on potential recommendations for surveillance and follow-up.

引用

页数：3

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