English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Current knowledge of the aetiology of hereditary breast cancer 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 inherited breast cancer in these populations. We focused this study on premenopausal patients (diagnosed with breast cancer before the age of 50;  n  = 78) and triple negative breast cancer (TNBC) patients ( 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  BRCA1 ,  BRCA2  and  PALB2  and to evaluate the presence of the  CHEK2  c.1100delC allele in these patients.    Methods  In total, 108 South African breast cancer patients underwent mutation screening using a Next-Generation Sequencing (NGS) approach in combination with Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large rearrangements in  BRCA1  and  BRCA2 .    Results  In 13 (12 %) patients a deleterious mutation in  BRCA1 / 2  was detected, three of which were novel mutations in black patients. None of the study participants was found to have an unequivocal pathogenic mutation in  PALB2 . Two (white) patients tested positive for the  CHEK2  c.1100delC mutation, however, one of these also carried a deleterious  BRCA2  mutation. Additionally, six variants of unknown clinical significance were identified (4 in  BRCA2,  2 in  PALB2 ), all in black patients. Within the group of TNBC patients, a higher mutation frequency was obtained (23.3 %; 7/30) than in the group of patients diagnosed before the age of 50 (7.7 %; 6/78).    Conclusion  This study highlights the importance of evaluating germline mutations in major breast cancer genes in all of the South African population groups. This NGS study shows that mutation analysis is warranted in South African patients with triple negative and/or in premenopausal breast cancer.    Electronic supplementary material  The online version of this article (doi:10.1186/s12885-015-1913-6) contains supplementary material, which is available to authorized users.

bmc cancer

BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer