2 UROLOGY, URO-ONCOLOGY AND SEXOLOGY UPDATE “I'm sorry, you have prostate cancer” are the words that about 1 in 20 South African men will hear in their lifetime. Hearing these words conrming a cancer diagnosis not only brings forth a ood of emotions but also triggers a cascade of questions from “How did this happen?” to “What caused it?” and “What about my children?” These inquiries are precisely the type of complex issues that a genetic counsellor is uniquely equipped to address. Genetic factors in prostate cancer development While the majority of prostate cancers will arise spontaneously and at random, While the majority of prostate cancers will arise spontaneously and at random, some individuals may carry a genetic mutation (variant) associated with an inherited cancer syndrome. A mutation is a change in the genetic code which causes the gene to be dysfunctional which in turn leads to an increased risk for a certain condition/cancer. Suspicion of an inherited cancer syndrome arises when specic factors come into play, such as metastatic prostate cancer (cancer has spread to other parts of the body), cancers diagnosed at an unusually young age (younger than 55 years for prostate cancer), the presence of multiple affected family members spanning generations, a personal history of multiple primary cancers and certain ancestral backgrounds, most notably Afrikaner and Ashkenazi Jewish populations. Research studies have suggested that about 15% of men who are diagnosed with metastatic and 5 to 7% with early-stage prostate cancer will carry a genetic mutation associated with an inherited cancer syndrome. The likelihood of genetic involvement surges to about 43% for men diagnosed before the age of 55 years. There are several genes believed to be associated with an inherited predisposition to prostate cancer. Genes associated with prostate cancer Hereditary prostate cancer in families with a young age of onset has been attributed to mutations in the HOXB13 gene. Men who carry variants in this gene have an eightfold increased risk of prostate cancer and an approximately tenfold increased risk of earlyonset cancer. Mutations in this gene are not believed to be related to an increased risk for any other types of cancers. Mutations in the BRCA1 and BRCA2 genes have a strong association with familial prostate cancer, with the BRCA2 gene showing the strongest association. Men with a BRCA2 variant are at an eightfold and BRCA1 variant a threefold increased risk. Men with these mutations are also at an increased risk of male breast cancer, melanoma and pancreatic cancer. These genes also confer a high risk for female breast and ovarian cancer. Mutations in these genes are highly prevalent amongst men of Afrikaner and Ashkenazi Jewish ancestry. The Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2 and EPCAM) are believed to slightly increase the risk for prostate cancer. Lynch syndrome is an inherited cancer syndrome which classically leads to an increased risk for colorectal, pancreatic, ovarian, endometrial, upper bowel and urinary tract cancers. The exact associated prostate cancer risk for these genes is uncertain, but the MSH2 and MSH6 genes are Why involve a genetic counsellor in prostate cancer care? Dr Chantelle Scott – Genetic Counsellor BSc Hons Genetics (Stell). MSc Med Genetic Counselling (UCT). PhD Human Genetics (Stell) Whilst studying for a BSc undergraduate degree majoring in both psychology and genetics, Chantelle was introduced to the genetic counselling profession. She realised that the profession would combine her interest in both psychology and genetics. In 2008 she embarked on the journey to become a genetic counsellor, this began with the requirement to complete a BSc honours degree in genetics at Stellenbosch University, followed by a MSc (Med) in Genetic Counselling at the University of Cape Town. This was followed by an internship after which she was registered as a genetic counsellor with the HPCSA. Her passion for research and improving the health care services offered to individuals and their families led her to pursuing a doctoral degree. She was awarded with a PhD in Human Genetics in 2018. She has also worked for a year in the UK as a general and cancer genetic counsellor. Apart from running a private practice Chantelle has been involved in training students and assisting with research projects at various departments at the Faculty of Medicine and Health Sciences at Stellenbosch University, including the division of Urology. She has recently been appointed to the Medical and Scientic Advisory Board of the Prostate Cancer Foundation.
RkJQdWJsaXNoZXIy NTIyOTQ=