1 in 9 patients with ovarian cancer may carry a mutation in BRCA1 or BRCA2 genes. Knowing one’s BRCA status may indicate how one may respond to certain therapies or risk of developing certain cancers. However, knowing your BRCA status is a decision that needs to be taken with careful consideration.
"For ovarian cancer patients, being a BRCA carrier means that there is a possibility of new treatments.. But what these results mean to the individual patient is unique to the patient and her circumstances. It’s never just a matter of offering a genetic test but this must, and I emphasise must, go hand in hand with genetic counselling,” adds Professor Dr Woo Yin Ling, Consultant GynaeOncologist at University Malaya.
Genetic counselling is typically provided by clinical geneticists or genetic counsellors. For Ms Yoon Sook-Yee, HGSACertified Genetic Counsellor and Head of the Familial Cancer Research Programme at Cancer Research Malaysia, the challenge is that she is only one of two accredited genetic counsellors in Malaysia, serving a population of up to 5,000 new breast cancer patients, 1,000 new ovarian cancer patients and countless relatives each year.
And so, together with Prof. Woo and many doctors nationwide, Cancer Research Malaysia has recently launched the MaGiC Study [Mainstreaming Genetic Counselling for Genetic Testing of BRCA1 and BRCA2 in Ovarian Cancer Patients in Malaysia]. In this study, Cancer Research Malaysia has collaborated with Professor Nazneen Rahman at the Institute of Cancer Research, Royal Marsden Hospital, London to implement their mainstreaming cancer genetics training modules to oncologists and gynaeoncologists in 21 sites across Malaysia. As part of this study, doctors in Klang Valley, Penang, Kedah, Malacca, Kelantan, Kuantan, Johor Bahru, Sabah and Sarawak will be able to provide some genetic counselling in the context of BRCA testing for ovarian cancer patients. By doing this, the team of doctors, genetic counsellors and scientists hope to improve access to genetic counselling and genetic testing in Malaysia.
The study would not be possible without the development of an affordable genetic test in collaboration with scientists at the University of Melbourne. For Dr Joanna Lim and Lai Kah Nyin, the leads in the genetic testing protocol at Cancer Research Malaysia, all the hard work in setting up a robust assay is worth it.
“With this study, we aim to get a better understanding of the barriers and challenges ovarian cancer patients face with genetic services in this country. We were fortunate enough to obtain a grant that covers the cost of genetic testing of 800 non-mucinous epithelial ovarian cancer patients in Malaysia. We hope that this study will improve access to genetic services in the interim as well as shape the future provision of genetic services in Malaysia,” quipped Dr Joanna Lim.
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Genetic counselling and testing can be offered to all women diagnosed with epithelial ovarian, tubal and peritoneal cancer regardless of family history and age.
Nine to fifteen percent (9-15%) of women with invasive ovarian cancer carry germline alterations in BRCA1 and BRCA2.
Approximately one-third of BRCA1 and BRCA2 carriers have no close relatives affected with cancer and approximately one-third are older than 60 years at the time of diagnosis.
Pre- and post-test genetic counselling is recommended to understand the risks and limitations with genetic testing, ensure informed decision-making and enable accurate comprehension of genetic test results and its implications.
The gold standard for genetic testing is a comprehensive mutation test of all exonic regions, intronexon junctions and including a method for detection of large genomic rearrangements. Predictive testing can be offered for a known mutation in the family.
Women with altered BRCA1 or BRCA2 genes have an increased risk to breast and ovarian cancer, with average risks for ovarian cancer by age 70 years of 39-40% in BRCA1 mutation carriers, and 11-18% in BRCA2 mutation carriers, compared to less than 1% average Asian women.
Early ovarian cancer is asymptomatic and the available techniques have not been demonstrated to be effective for early diagnosis. Intensive screening for ovarian cancer in BRCA carriers is therefore not supported because of the current limitations in sensitivity and specificity of transvaginal ultrasounds and/or measurement of serum CA125 level.
Risk reducing salpingo-oophorectomy (RRSO) is therefore recommended to BRCA1/2 mutation carriers once childbearing is complete.
Use of Poly ADP Ribose Polymerase (PARP) inhibitors in BRCA-related ovarian cancer may be considered.