Women at risk of developing inherited gynaecological cancers should be identified as early as possible to ensure that they get the most appropriate treatment states a new opinion paper published by the Royal College of Obstetricians and Gynaecologists (RCOG) today.
Scientific Impact Papers (SIPs) are produced by the Scientific Advisory Committee at the RCOG and are up-to-date reviews of emerging or controversial scientific issues of relevance to obstetrics and gynaecology.
In this paper, the management of women at risk of hereditary gynaecological cancer is discussed looking specifically at current genetic testing and preventive and therapeutic treatment options.
Approximately 5% of endometrial cancers and 20% of ovarian cancers are hereditary. For example, women with inherited BRCA1 and BRCA2 gene mutations have an increased risk of developing breast and ovarian cancer. It is therefore vital to identify high-risk families states the paper.
Recently published guidance from the National Institute for Health and Care Excellence (NICE) has lowered the threshold for BRCA1 and BRCA2 gene testing. As a result, genetic testing options are now available to more women with ovarian cancer than previously.
The paper looks at genetic testing and states that it is important to distinguish between diagnostic and predictive testing. A diagnostic genetic test is a full screen of the gene normally undertaken in an individual affected with cancer. It is used to identify or rule out a specific genetic condition. By contrast, a predictive test is a targeted test for a specific mutation, previously identified in another family member, and usually undertaken in an individual who has not had cancer. Importantly, recent advances in gene sequencing have led to cheaper, quicker testing states the paper.
The main management option for women carrying a BRCA1 or BRCA2 mutation are risk-reducing removal of the ovaries and fallopian tubes and risk-reducing breast surgery or breast screening. A woman with a BRCA1 mutation is more likely to develop ovarian cancer in her 40s therefore 35-40 years of age is deemed to be an appropriate age to consider surgery and it is around 45 years of age for women with a BRCA2 mutation.
The paper states that for women who decide not to have surgery, the evidence for screening for ovarian cancer is yet to be established. There needs to be evidence from large, prospective studies which provide clear evidence that screening can improve morbidity and mortality before it can be offered as an alternative to surgery, say the authors.
The paper also explores therapeutic treatment options including more personalised treatment with the development of new drug therapies which target tumour cells with specific mutations.
The authors conclude that identifying patients with a specific mutation as soon as possible is important to ensure that they and their families receive the most appropriate treatment. Rapid advances in gene sequencing and the development of new drug therapies are leading to a shift in how cancer genetics services are delivered.
They add that in the future it is likely a new model of care will be adopted where all patients with cancer, irrespective of their family history, will be screened for gene mutations. The challenge will then be translating this new knowledge into clinical practice, with multidisciplinary input, to enhance quality of life for patients and their families.
Dr Anju Kulkarni, Consultant in Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust and co-author of the paper said:
“Although the majority of gynaecological cancers are sporadic, it is important that those caused by an inherited predisposition are identified.
“These women can then be managed by a multidisciplinary team that enables them to have tailored care based on their medical history and preferences.
“It is also important to consider the implications of identifying a gene mutation both physically and emotionally for the individual and the whole family.”
Dr Sadaf Ghaem-Maghami, Chair of the RCOG’s Scientific Advisory Committee, said:
“Clinicians should be alert to the possibility of a hereditary condition when managing women with gynaecological cancer and be familiar with national guidance used to identify these women.
“With the expansion of technologies to detect gene mutations more women and their families will be identified and will require the right care and support. Evidence-based strategies will be needed to provide the best care for women and their families.”
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Read the key messages from Scientific Impact Paper No.48.
About RCOG Scientific Impact Papers
RCOG Scientific Impact Papers (formerly SAC Opinion papers) are produced by the Scientific Advisory Committee. They are up to date reviews of emerging or controversial scientific issues of relevance to obstetrics and gynaecology, together with the implications for future practice. These documents have been rebranded to raise awareness of the issues in obstetrics and gynaecology discussed in the documents and to more accurately reflect their content and remit of the Committee.
The NICE guidance Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer is available to view here.