Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families

Abstract

Abstract. Testing for cancer susceptibility gene, in particular mutations in the BRCA1 gene in association with hereditary breast/ovarian cancer has been extensively studied. We investigated germline mutations in the BRCA1 gene from two Korean hereditary breast/ovarian cancer families using direct DNA sequencing. Blood samples of the thirteen family members were studied. We found three missense mutations; 3232 A→G, 2731 C→T, 3667 A→G. These mutations were involved in the altered coding of amino acids. According to the BIC database, clinical significance of these mutations is regarded as favor polymorphisms. Therefore, these genetic variations are not believed to be involved in the development of the disease, but may be associated with breast/ovarian cancers in another yet undefined way. For further clinical significance of these variations, additional study such as a case-controlled haplotyping study is needed.

Establishment and characterization of two primary breast cancer cell lines from young Indian breast cancer patients: mutation analysis

“…Several polymorphisms were observed, among polymorphisms in BRCA1 exon 11, g.2201 C > T is a frequent polymorphism reported in US [ 75 , 76 ], and European population [ 75 ]; while polymorphism at nucleotide g.3667 G > A had earlier been reported in north Indian population [ 22 ]. The other polymorphisms g2731 C > T, g.3232 A > G and g.3667 G > A in exon 11 of BRCA1 have been reported in Korean population [ 32 , 77 ]. The BRCA2 Exon14 g.7470 A > G polymorphism found in both the cell lines had also been reported earlier in north Indian population [ 32 ].…”

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

“…Prevalence and phenotype of BRCA mutation varies according to country and race [ 19 – 21 ]. Several reports on BRCA gene mutation in Korean breast cancer patients have been published over a decade since a first report of BRCA1 among Korean pedigrees in 1995 [ 22 – 30 ]. The prevalence of BRCA1 and BRCA2 mutations were reported in 2.5–3.1% for sporadic breast cancers, in 19.4–42.9% for familial breast cancer patients with two or more affected first- and second-degree relatives with breast or ovarian cancers, and in 9.6–18.3% for early onset breast cancers.…”

The Prevalence of Ovarian Cancer in Korean Women at High-Risk for Hereditary Breast-Ovarian Cancer

“…연세대학교 의과대학 외과학교실, 6 전북대학교 의과대학 외과학교실, 7 단국대학교 의과대학 외과학교실, 8 부산대학교 의과대학 외과학교실, 9 인하대학교 의과대학 외과학교실, 10 서울대학교보라매병원 외과, 11 한국원자력의학원 원자력병원 외과, 12 건국대학교 의과대학 외과학교실, 13 인제대학교 상계백병원 외과학교실, 14 관동대학교 의과대학 제일병원 외과, 15 CA-125가 상승된 모든 여성에게 산부인과적 진찰과 경질초음파 Figure 1. Description of the subjects.…”