Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer

被引：10

作者：

Guaoua, Soukaina ^{[1
,2
]}

Ratbi, Ilham ^{[1
]}

Lyahyai, Jaber ^{[1
]}

El Alaoui, Siham Chafai ^{[2
]}

Laarabi, Fatima-Zahra ^{[2
]}

Sefiani, Abdelaziz ^{[1
,2
]}

机构：

[1] Univ Mohammed V Souissi, Fac Med & Pharm, Ctr Genom Humaine, Rabat, Morocco

[2] Natl Inst Hyg, Dept Med Genet, Rabat, Morocco

来源：

AFRICAN HEALTH SCIENCES | 2014年 / 14卷 / 02期

关键词：

male; breast cancer; BRCA2; gene; mutation; genetic counseling; BREAST/OVARIAN CANCER; GERMLINE MUTATIONS; POPULATION; RISK;

D O I：

10.4314/ahs.v14i2.25

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. Objective: Molecular study of BRCA2 gene in man with familial breast cancer. Methods: PCR and direct sequencing of BRCA2 gene. Results: Identification of novel heterozygous germline mutation c.6428C>A; p.Ser2143Stop of BRCA2 gene.

引用

页码：468 / 471

页数：4

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