Young breast cancer patients in the developing world: incidence, choice of surgical treatment and genetic factors

Krüger, W; Apffelstaedt, JP

doi:10.1080/20786204.2007.10873634

Cited by 11 publications

(6 citation statements)

References 13 publications

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“…Two studies focussing on the prevalence of BRCA mutations in early-onset breast cancer patients present in various Black African groups have been launched at the University of Pretoria (principal investigator Prof EJ van Rensburg) in Pretoria Gauteng and the University of the Free State in Bloemfontein in the Free State Province (Fig. 1) Reports state that Black African patients have a younger age at diagnosis than women in developed countries and are also more advanced at presentation (4,19). Although we lacked tumour grades for the majority of our patients, 15 of the 22 patients below the age of 45 presented with stage III or IV tumours.…”

Section: Resultsmentioning

confidence: 99%

“…The youngest (26 years old) is also affected with ovarian cancer. As these patients are mostly from rural communities, some of the late presentations are probably attributable to delays in seeking medical attention (4).…”

Section: Resultsmentioning

confidence: 99%

“…Furthermore, the incidence rate in urban areas of the Western Cape, based on both Black and Coloured patients, was 26.6/100,000, almost twice that of rural areas (16.3/100,000) (2). This increase could be because of the adoption of a more western lifestyle, including women being physically less active, having fewer children, with the first child born at a later age, and a shorter duration of breast feeding (3,4).…”

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A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa

et al. 2011

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Founder mutations in BRCA1 and BRCA2 have been reported in many different populations. We studied 105 Coloured and 16 Black Xhosa women residing in the Western Cape of South Africa diagnosed with breast cancer. We screened these patients using our standard panel of six previously reported SA Afrikaner and Ashkenazi Jewish BRCA1/2 mutations and identified only two Afrikaner mutations. Further screening by the protein truncation test (BRCA1 exon 11, and BRCA2 exons 10 and 11) revealed an additional four deleterious mutations (BRCA1 c.1504_ 1508del,p.Leu502AlafsX2, BRCA2 c.2826_2829del,p.Ile943LysfsX16, c.6447_6448dup,p.Lys2150IlefsX19 and c.5771_5774del,p.Ile1924Argfs X38). The latter, also known in Breast Cancer Information Core nomenclature as 5999del4, was identified in 4 of 105 (3.8%) Coloureds and 4 of 16 (25%) Xhosa women, which makes it a frequent founder mutation in the Western Cape Province. Although this mutation was previously reported to occur in the Netherlands, haplotype analysis indicated two distinct origins for the Dutch and South African mutations, excluding the possibility of a common Dutch ancestor and suggesting gene flow from the indigenous tribes such as the Xhosa to the Coloured population instead. Further studies to determine the carrier rate of this variant in the Xhosa and other SA populations are warranted.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa

et al. 2011

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“…Furthermore, it is often attributed to a genetic predisposition with germline mutations in the BRCA1/2 genes [ 19 – 22 ]. Younger women of African descent are known to be in the high-risk group with decreased survival rates [ 23 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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BackgroundCurrent 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.MethodsIn 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.ResultsIn 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).ConclusionThis 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 materialThe online version of this article (doi:10.1186/s12885-015-1913-6) contains supplementary material, which is available to authorized users.

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“…Breast cancer remains intractable and the leading cause of cancer related death among women worldwide. The prevalence is increasing even in African countries that used to have low but present with more aggressive, increased mortality, earlier age at presentation (35 -45 years) and different patterns of gene expression [1] [2] [3]. Most of the studies in Nigeria confirm late presentation with advanced disease and poor clinical outcome [4] [5] [6] [7].…”

Section: Introductionmentioning

confidence: 99%

Serum Immunoglobulins (IgG, IgM and IgA) in Nigerian Women with Breast Cancer

Felix¹,

Ogbodo²,

Chinedum³

2018

OJI

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Background: Breast cancer remains intractable and the leading cause of cancer related death among women. The appearance of breast tumour and its progression poses great clinical unpredictability before and after diagnosis, therapy and appearance of recurrent secondary deposits. Various immunological changes occur during breast tumourigenesis, and can be of value in the surveillance of the diseases. In our environment, there is scanty information on the value of these immunological factors especially immunoglobulins in screening and surveillance of breast cancer-hence the need for this study. Methodology: A total of 59 females (mean age = 48.7 ± 8.7 yrs) with clinically and pathologically confirmed breast cancer were prospectively recruited alongside with 20 patients with benign breast tumour representing patients' control group and 20 apparently healthy age and sex-matched control subjects (mean age = 47.5 ± 13.4 yrs). Breast cancer patients were further grouped into early stage breast cancer (N = 25) and advanced stage breast cancer (N = 34). Patients were subjected to standard treatment modalities and pre-and post-treatment samples collected at intervals. Samples were assayed for IgG & IgM by immunoenzymatic methods and IgA by immunoturbidimetric method. Questionnaires and measurements were used to obtain necessary demographic and anthropologic information from the subjects. Results: Results showed that in all stages of breast cancer and treatment groups, the mean serum IgG, IgM and IgA levels respectively were not significantly raised (P > 0.05) when compared. Results also showed that majority (59%) of the patients presented at advanced stage of the disease. Low level of education and low income were among the prevailing risk factors. Majority (63%) of the cases had body mass index suggesting obesity (>30 kg/m 2). Conclusion: Results suggest that serum immunoglobulin (IgG, IgM and IgA

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Young breast cancer patients in the developing world: incidence, choice of surgical treatment and genetic factors

Cited by 11 publications

References 13 publications

A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa

A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa

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

Serum Immunoglobulins (IgG, IgM and IgA) in Nigerian Women with Breast Cancer

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