CYP19A1 rs10046 Pharmacogenetics in Postmenopausal Breast Cancer Patients Treated with Aromatase Inhibitors: One-year Follow-up.

Background: Significant individual variation in bone loss associated with aromatase inhibitors (AIs) emphasizes the importance of identifying postmenopausal breast cancer patients at high risk for this adverse effect. The study explores the clinical relevance of genetic variation in the Cytochrome P450 19A1 (CYP19A1) gene in a subset of South African patients during the first year of taking AIs for estrogen receptor (ER)-positive breast cancer.

Methods: The study population consisted of ER-positive breast cancer patients on AIs, followed in real-life clinical practice.

Assessment of the delayed repair of uncomplicated inguinal hernias in infants.

Background: Potential strangulation of infant inguinal hernias is the main indication for their urgent repair. Lack of theatre time delays repair and prolongs hospitalisation. We report a series of patients with uncomplicated hernias who were discharged home to have their elective surgery at a later stage and assessed the outcomes of this approach.

Disparities in Breast Cancer: Private Patients Have Better Outcomes Than Public Patients.

Introduction: Different outcomes in breast cancer have been reported for low and high socio-economic groups. We present data quantifying disparities between South African public and private patients.

Methods: Records of 240 consecutive patients treated in 2008 in a public versus 97 patients in a private health facility were reviewed for demographic and oncologic data.

Pharmacogenetics of Aromatase Inhibitors in Endocrine Responsive Breast Cancer: Lessons Learnt from Tamoxifen and CYP2D6 Genotyping.

Background: Genetics play a significant role in drug metabolism of endocrine therapy of breast cancer. These aspects have been studied extensively in patients on tamoxifen, but the pharmacogenetics of aromatase inhibitors are less established. In contrast to the protective effect of tamoxifen, aromatase inhibitors are linked with an increased risk for bone loss and fractures.

Postmenopausal Breast Cancer, Aromatase Inhibitors, and Bone Health: What the Surgeon Should Know.

Breast cancer, as the most common malignancy in women, remains a major public health issue despite countless advances across decades. Endocrine therapy is the cornerstone of treatment of the hormone-sensitive subtype of breast cancer. The use of aromatase inhibitors (AIs) in the postmenopausal women has extended the survival beyond that of Tamoxifen, but harbors a subset of side effects, most notably accelerated bone loss.

Genomic medicine and risk prediction across the disease spectrum.

Genomic medicine is based on the knowledge that virtually every medical condition, disease susceptibility or response to treatment is caused, regulated or influenced by genes. Genetic testing may therefore add value across the disease spectrum, ranging from single-gene disorders with a Mendelian inheritance pattern to complex multi-factorial diseases. The critical factors for genomic risk prediction are to determine: (1) where the genomic footprint of a particular susceptibility or dysfunction resides within this continuum, and (2) to what extent the genetic determinants are modified by environmental exposures.

Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer.

Accurate determination of human epidermal growth factor receptor-2 (HER2) status is essential for optimal selection of breast cancer patients for gene targeted therapy. The analytical performance of microarray analysis using TargetPrint for assessment of HER2 status was evaluated in 138 breast tumours, including 41 fresh and 97 formalin-fixed paraffin embedded (FFPE) specimens. Reflex testing using immunohistochemistry/in situ hybridization (IHC/ISH) in four discordant cases confirmed the TargetPrint results, achieving 100% agreement regardless of whether fresh tissue or FFPE specimens were used.

Results of a pilot programme of mammographic breast cancer screening in the Western Cape.

Background: Mammographic screening programmes are now established in developing countries. We present an analysis of the first screening programme in sub-Saharan Africa.

Methods: Women aged > or = 40 years were identified at three primary healthcare centres in the Western Cape Province, South Africa, and after giving informed consent underwent mammography at a mobile unit.

Implementation of a breast cancer genetic service in South Africa - lessons learned.

Background: Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging.

Objective: To describe an approach to breast cancer genetic counselling and testing developed in a resource-constrained environment at Tygerberg Hospital in Cape Town, Western Cape.

Methods: Genetic counselling is offered in a stepwise manner to our diverse patient population, with a focus on affected probands, and subsequent cascade testing.

MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer.

Background: Clinical and pathological parameters may overestimate the need for chemotherapy in patients with early-stage breast cancer. More accurate determination of the risk of distant recurrence is now possible with use of genetic tests, such as the 70-gene MammaPrint profile.

Objectives: A health technology assessment performed by a medical insurer in 2009 introduced a set of test eligibility criteria - the MammaPrint Pre-screen Algorithm (MPA) - applied in this study to determine the clinical usefulness of a pathology-supported genetic testing strategy, aimed at the reduction of healthcare costs.

Influence of genetic factors on the development of breast cancer in the older woman.

Although the major part of the burden of disease for female breast cancer occurs at older age, less is known about the development and progression in this age group than in women under 60 years of age. As the world population continues to age, the percentage of elderly is increasing in all communities and the incidence of breast cancer will rise accordingly. Improving detection and diagnosis, and a better understanding of the mechanisms that play a role in this age group, will not only improve quality of life in older sufferers but could also contribute to the management of this disease in the adult population as well.

7-year follow up of intra-operative radiotherapy for early breast cancer in a developing country.

Scarce radiation resources and an often poor, rural population make single fraction, definitive intra-operative radiation (IORT) ideal for developing countries. From 2002 to 2005 IORT in breast conservation was administered utilizing existing infrastructure in an extremely resource-restricted environment. After tumor excision an applicator was introduced into the tumor bed.

Time for a re-evaluation of mammography in the young? Results of an audit of mammography in women younger than 40 in a resource restricted environment.

Mammography in younger women is considered to be of limited value. In a resource restricted environment without access to magnetic resonance imaging (MRI) and with a high incidence of breast cancer in the young, mammography remains an important diagnostic tool. Recent technical advances and better regulation of mammography make a reassessment of its value in these conditions necessary.

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

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.

Surgeon-read screening mammography: an analysis of 11,948 examinations.

Introduction: Mammography was pioneered by surgeons but is now the domain of radiologists. With ever-increasing cost pressures it must be examined whether interpretation of mammography by clinicians and radiation technologists is comparable to that of breast radiologists. We present the largest series of surgeon-read screening mammography to date.

Surgical mammography reporting in a limited resource environment.

Background: Lack of resources and dedicated breast radiology has forced professionals other than radiologists to read mammography. We report a series of surgeon-read mammography in a developing country.

Methods: Data were collected prospectively form January 2003 to June 2008 for all mammography performed at a tertiary hospital.

Prevention of aromatase inhibitor-induced bone loss using risedronate: the SABRE trial.

PURPOSE To investigate the management of bone health in women with early breast cancer (EBC) who were scheduled to receive anastrozole. PATIENTS AND METHODS Postmenopausal women with hormone receptor-positive EBC were assigned to one of three strata by risk of fragility fracture. Patients with the highest risk (H) received anastrozole 1 mg/d plus risedronate 35 mg/wk orally.

Breast cancer in young women in a limited-resource environment.

Background: Despite the higher incidence of breast cancer in young women in developing countries, there is a paucity of data on their management. We present the clinicopathological features and outcome of treatment of women 35 years or younger with breast cancer in a resource-restricted environment.

Methods: A total of 141 patients who were diagnosed with primary breast cancer at 35 years or younger from January 2000 to June 2008 were retrieved from the cancer registry of a breast clinic at a tertiary hospital and a private breast health center in South Africa.

Performance data of screening mammography at a dedicated breast health centre.

Background: Mammographic screening has become part of routine health care. We present a first analysis of screening mammography in a dedicated breast health centre in Africa.

Objective: To establish a performance benchmark and provide data for health care policy and funding decisions on screening mammography.

Counseling for male BRCA mutation carriers: a review.

BRCA mutations in women confer a high risk for breast and ovarian cancers. The risks to male carriers are poorly understood and risk management strategies undescribed. This review summarizes current evidence and gives recommendations for counseling male BRCA mutation carriers.

Conservative management of breast cancer in the elderly in a developing country.

Background: The cost effective treatment of cancer in developing countries remains challenging. In the elderly with possible limited life expectancy, the health expenditure associated with standard treatment regimes should be carefully considered. We present the results of conservative management of breast cancer in the aged in a resource-limited environment.