Genetic Screening for Breast Cancer Risk in the UK: The key facts you need to know to understand your personal risk of breast cancer

Breast Symptom Assesment and Treatment Thumbnail min

Introduction:

Breast cancer is a complex disease with various risk factors, including a genetic predisposition for some individuals. In the United Kingdom, advancements in medical science have led to the availability of genetic screening for assessing breast cancer risk. This article aims to guide patients through the process of genetic screening, providing essential information on its significance, the testing procedure, and how individuals can make informed decisions about their health.

Understanding Genetic Screening:

Genetic screening involves analysing specific genes associated with an increased risk of developing breast cancer. The two primary genes examined in this context are BRCA1 and BRCA2 though there are 12 current key genes primarily tested for (this will change as our understanding of genomics continues to increase). Mutations in these genes can significantly elevate the likelihood of developing breast and ovarian cancers.

Who Should Consider Genetic Screening:

  • Individuals with a strong family history of breast or ovarian cancer.
  • Those with relatives who tested positive for BRCA mutations.
  • Women diagnosed with breast cancer at a young age.
  • Individuals of Ashkenazi Jewish descent, as this population has a higher prevalence of BRCA mutations.

The Decision-Making Process:

  • Genetic screening is a personal choice. Individuals considering testing should weigh the potential benefits against the emotional and psychological implications of the results.
  • Genetic counselors play a crucial role in the decision-making process, providing information, support, and helping patients understand the potential implications of the test results.

The Testing Procedure:

  1. Referral:Patients interested in genetic screening typically begin with a discussion with their primary care physician or a breast specialist. If deemed appropriate in the NHS, a referral to a genetic unit may be made, however private providers also allow for affordable testing allowing the entire population access to testing.
  1. Counseling Session:Before undergoing genetic testing, individuals meet with a genetic counselor or breast specialist who explains the process, potential outcomes, and the implications for themselves and their families. This session helps patients make informed decisions about proceeding with the test.
  1. Sample Collection:Genetic screening is usually conducted using a blood or saliva sample. The sample is sent to a laboratory for analysis, where specific genetic markers are examined to identify any mutations.
  1. Interpreting Results:Once the results are available, patients meet with their genetic counselor and/or breast specialist to discuss the findings. Negative results indicate no identified mutations, while positive results suggest the presence of a mutation that may increase the risk of breast cancer.

Making Informed Decisions:

  1. Potential Outcomes:A positive result doesn’t guarantee the development of cancer but signals an increased risk. Patients can explore proactive measures, such as increased surveillance, preventive surgeries, or medication, to manage the risk.A negative result provides relief but does not eliminate the possibility of developing breast cancer.
  1. Emotional Support:Coping with the emotional impact of genetic screening results can be challenging. Support networks, including friends, family, and support groups, can provide valuable assistance during this period.

Conclusion:

Genetic screening for breast cancer risk in the UK empowers individuals with valuable information to make informed decisions about their health. By understanding the significance of genetic testing, collaborating with healthcare professionals, and accessing emotional support, patients can navigate this process with confidence. The ultimate goal is to enhance personalized care, early detection, and proactive measures to reduce the impact of breast cancer on individuals and their families.

If you have any concerns regarding your risk of breast cancer or want to know what that risk may be please get in touch to arrange a genetic assessment and access to testing.

Senthurun (Seni) Mylvaganam 

Consultant Oncoplastic Breast Surgeon

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WANT TO KNOW MORE

FAQ’s

Breast surgery as any surgery is not without risk. These risks and the relative chance of them happening for you will differ dependent on the type of surgery you have and also personal risk factors. Risks of breast surgery can be early risks related to the surgery itself or longer term risks such as cosmetic changes related to ageing.

Infection and poor wound healing are a risk in all breast procedures whether it is for breast cancer or for cosmetic reasons. Cosmetic surgery has a lower risk of this but it is increased if you are a smoker or have other medical problems which may effect healing such as diabetes. Every breast procedure will have a long list of possible risks or complications however most of them can be quite rare.

Your surgeon will be able to guide you through the individual risks for your chosen procedure explaining about likelihood of occurrence and what that could mean for you if the complication occurs.

This can be a difficult question to answer. In the cosmetic setting your surgeon will listen to you about what you wish to achieve focusing on shape and volume. They will then examine and assess your chest frame to determine what range of implants are suitable for you to compliment your body shape without risk of long term poor cosmetic results.

Implants vary by brand, surface texture, volume and projection. The choices available within each of these categories can be extensive. The right implant for you will be based on a collaborative discussion between you and your surgeon to select the right implant, volume, shape and projection to be the best fit to meet your cosmetic needs.

Same day cosmetic surgery is generally very safe. Your surgeon will discuss with you specific risks which will be related to the surgery that is to be undertaken and the individual risks that may be more specific to you. This can often be related to any other medical conditions you have or if you are a smoker.

Following surgery you are observed for 2-4 hours afterwards to ensure you have recovered from the anaesthetic and there are no immediate post operative complications. If you are then deemed fit to be discharged you will be able to leave with further post operative instructions to guide you at home and also contact details should you experience any problems at home and need further medical advice. You will be required to have a responsible adult stay with you for the first night after surgery to be eligible to be discharged on the same day of your surgery.

The purpose of cosmetic and reconstructive surgery is different. Cosmetic surgery has a goal of improving the cosmetic appearance by complimenting and modifying the shape and/or size of your natural breasts. Reconstructive surgery is primarily considered for patients who may require or have a mastectomy(removal of all breast tissue). This can be for a number of reasons but primarily is for the treatment of breast cancer or risk reduction if patients have a gene defect making them much more at risk of developing breast cancer. Reconstructive surgery involves the recreating of a breast mound and shape. The cosmetic goals in reconstructive surgery can be quite different to cosmetic breast surgery due to the effects of cancer treatments and the loss of all breast tissue often preventing an optimal natural appearance to be achieved.

Both types of surgery can use implants and fat grafting but reconstructive surgery can also be undertaken by moving your own tissue from another area to recreate the breast.

If you are experiencing a breast symptom such as a new lump, skin or nipple change, nipple discharge, breast shape change, armpit lumps or breast/chest swelling in men then this clinic appointment will aim to address these and other breast symptoms. I will undertake a detailed assessment of the symptoms, screen for the need for genetic risk assessment and examine you. Based on this I will give you a clear explanation of that assessment.

I will inform you as to any diagnosis reached or the need for any imaging, which could be a breast ultrasound or mammogram to help reach that diagnosis. This may also be complimented by a tissue biopsy to confirm any diagnosis. Following any diagnosis I will discuss with you a plan of treatment or reassurance as necessary.

Breast symptoms are extremely common and can range from noticing a difference in the appearance or texture of your breasts to new lumps, nipple changes and breast pain. All breast symptoms should be reviewed by either your GP or a breast surgeon. However this does not mean to say that your symptom is likely to represent a worrying change such as cancer.

MOST breast symptoms are either the result of a normal variation in the tissues that comprise your breast or to a family of conditions that are collectively called benign breast disease. In my breast reassurance clinic I will be able to assess you and provide a diagnosis and explanation for your symptoms or if necessary, further assess the symptoms if a cancer is suspected. It is much more likely your breast symptoms are not due to breast cancer but please do be assessed for any new symptoms.

Choosing to have breast augmentation is a very personal decision. Your surgeon should guide you through this process. By doing this they should help you to decide firstly whether it is right for you and then guide you through your vision for the final look and how to achieve it. I always aim to really understand what the final desired appearance is wanted right up to the smallest detail. We discuss this based on the shape including cleavage, appearance in and out of clothes and then also volume. Following this discussion to achieve your look we may also discuss performing a small uplift as well as the use of implants.

I will always be honest about what can be expected and whether your vision of the final look is possible and responsible to achieve whilst respecting your body shape and frame. A library of my work will also be available for you to view. Beyond this it is also crucial that your surgeon discusses with you the potential risks of the surgery which should include short term and what may happen in the long term. With this entire discussion you will develop a rapport and relationship with your surgeon. You can then decide if that surgeon is the right one for you or not.

Breast augmentation surgery can be undertaken as a day case procedure. Hence you can go home the same day once you have had a period of observation after surgery. You will be fitted with a surgical bra and a binder which can be purchased by yourself or provided at the hospital. The binder provides gentle pressure from above the implants ensuring they remain in the optimal position whilst healing occurs. Please aim for about 4-6 weeks of recovery before getting back to anything strenuous such as the gym or long runs. If returning to work this can be done after 1-2 weeks but ensure you only undertake light manual labour activities.

I will ask you to wear the surgical bra as much each day and night as possible for 6 weeks to provide the best cosmetic result. Upon review during your recovery I will inform you as to when to remove the binder.

SPECIALIST

Treatments

Breast Reassurance

Breast symptom assessment utilising the national standard of triple assessment (clinical hist...

Breast Cancer Care

Treatment of breast cancer including a full range of oncoplastic and breast reconstruction techniques.

Cosmetic Breast Surgery

Surgery to change the appearance of your breasts adjusting volume, shape and cleavage.