@entity5345 , @entity2674 and XXXX mutations and @entity9516 @entity12096 in different South African ethnic groups diagnosed with premenopausal and/or @entity0 .

@entity1 @entity12096 @entity0 @entity9517 @entity5345 @entity2674 @entity6069 @entity9516
BACKGROUND: Current knowledge of the aetiology of @entity0 in the four main South African population groups (black, coloured, Indian and white) is limited. Risk assessments in the black, coloured and Indian population groups are challenging because of restricted information regarding the underlying genetic contributions to @entity0 in these populations. We focused this study on premenopausal @entity1 (diagnosed with @entity0 before the age of 50; n   =   78) and @entity0 ( @entity0 ) @entity1 (n   =   30) from the four South African ethnic groups. The aim of this study was to determine the frequency and spectrum of germline mutations in @entity5345 , @entity2674 and @entity9517 and to evaluate the presence of the @entity9516 @entity12096 allele in these @entity1 . METHODS: In total, 108 South African @entity0 @entity1 underwent mutation screening using a Next-Generation Sequencing (NGS) approach in combination with Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large rearrangements in @entity5345 and @entity2674 . RESULTS: In 13 (12  %) @entity1 a deleterious mutation in @entity6069 was detected, three of which were novel mutations in black @entity1 . None of the study @entity1 was found to have an unequivocal pathogenic mutation in @entity9517 . Two (white) @entity1 tested positive for the @entity9516 @entity12096 mutation, however, one of these also carried a deleterious @entity2674 mutation. Additionally, six variants of unknown clinical significance were identified (4 in @entity2674 , 2 in @entity9517 ), all in black @entity1 . Within the group of @entity0 @entity1 , a higher mutation frequency was obtained (23.3  %; 7/30) than in the group of @entity1 diagnosed before the age of 50 (7.7  %; 6/78). CONCLUSION: This study highlights the importance of evaluating germline mutations in major @entity0 genes in all of the South African population groups. This NGS study shows that mutation analysis is warranted in South African @entity1 with triple negative and/or in @entity0 .
