The role of genetics in detecting hereditary breast cancer: Understanding the BRCA1 and BRCA2
Incidence of breast cancer among women in the UAE has grown over the last decade
Abu Dhabi: Breast cancer is the most common cancer across the world and one of the most fatal forms of cancer for women. In the UAE, breast cancer among women has shown the biggest growth in incidence over the past decade.
There are a variety of reasons why an individual can develop breast cancer during their lifetime. Among the non-controllable factors that greatly increases an individual’s individual’s risk profile are gene mutations which are implicated in 5-10% of breast cancer cases.
Inherited gene mutations
According to the National Comprehensive Cancer Network (NCCN), certain inherited gene mutations greatly increase breast/ovarian cancer risk, the most dominant being mutations in the genes BRCA1, BRCA2.
However, now we know that other genes are also associated with increased risk and should be considered for genetic testing.
Those genes include but not restricted to: PALB2, PTEN, TP53, CDH1, STK11, CHEK2, ATM, RAD51D, RAD51C, NF1, and BARD1.
These genes, known as Breast Cancer genes, are normally responsible for DNA repair, and prevent breast and ovarian tissue, as well other cells, from growing uncontrollably.
When they develop mutations however, the risk of breast, ovarian and other cancers is increased.
The median age of newly diagnosed patients is 48 years old, which significantly younger than their counterparts in the US and Europe. This points to cancer incidence at a younger age, and we are now carrying out research to determine any trends or causal effects that emerge out of it.
People with a BRCA mutation may be up to six times more likely to get breast cancer by 80 years of age than the general population. They might also develop cancer at an earlier age, with the disease likely to affect both breasts. In fact, a recent Cleveland Clinic Abu Dhabi study has found that Emirati patients seeking breast cancer care at the hospital are relatively young.
Discussing the findings, Rifaat Rawashdeh, Genetic Counselor in the Oncology Institute said, “The median age of newly diagnosed patients is 48 years old, which significantly younger than their counterparts in the US and Europe. This points to cancer incidence at a younger age, and we are now carrying out research to determine any trends or causal effects that emerge out of it.”
Hereditary breast cancer gene mutations are passed down from individuals to the next generation, which is why breast, ovarian and other cancers run in families. An individual with a family history of breast or ovarian cancer should therefore consider genetic testing to identify mutations using a gene panel beyond just BRCA1/2 genes.
In the world of advanced medical procedures, outcomes aren’t just measured in success rates or statistics. They’re measured in the renewed hope, restored confidence, and improved quality of life that our patients experience
Explaining the eligibility of genetic tests for patients, Rifaat said: “Breast cancer is the most common cancer in women after thyroid cancer — and up to 15% of people with breast cancer have a genetic or inherited cause for the disease. Many breast cancer genes exist. You can inherit gene mutations from either of your biological parents, and the cancers they’re linked to can affect both men and women — so consider all your relatives when thinking about your family history.”
Before the test, patients meet with a genetic counselor to understand how inherited genes can affect cancer risk, and what various results can mean for them.
The case file and family history are studied by several experts including, a genetic counselor, a medical oncologist and a breast surgeon from the world-class Fatima bint Mubarak Center. The actual genetic test is a simple blood draw, which is then studied for gene mutations.
Most cases of breast cancer aren’t hereditary. So, a negative result lower the chance that you have a known gene mutation for breast cancer, but you can still get breast cancer.
Patients who test positive for a disease causing mutation are then offered genetic counselling to discuss implications and preventive measures with their caregiver or genetic counselor, including the need for more frequent cancer screenings, additional screening like MRIs, administration of cancer-preventive medication, or even preventive risk reducing surgeries such as mastectomy.
On the other hand, individuals who test negative are recommended to continue screening for cancer every two years after the age of 40, as recommended by the Department of Health – Abu Dhabi.
“Most cases of breast cancer aren’t hereditary. So, a negative result lower the chance that you have a known gene mutation for breast cancer, but you can still get breast cancer,” Rifaat continued.
Prevention
Dr. Raffi Gurunian, Department Chair and Chief of Plastic Surgery at Cleveland Clinic Abu Dhabi, emphasizes the importance of this preventive approach.
“Lymphedema is more than a physical ailment; it can lead to social isolation, mobility issues, and mental distress. Managing both the physical and psychological effects of cancer and its treatments is essential for patients’ success,” he notes.
Breast reconstruction after mastectomy is a critical aspect of breast cancer treatment. One advanced option gaining prominence is the Deep Inferior Epigastric Perforator (DIEP) flap breast reconstruction. This technique utilizes the patient’s lower abdominal skin, fat, and blood vessels to reconstruct the breast while preserving abdominal muscles.
Success rates of breast reconstruction can vary based on factors such as surgical expertise, patient health, and individual goals for reconstruction.
DIEP flap reconstructions have shown promising results, including high flap survival rates exceeding 95%. Lower complication rates, such as abdominal hernia or bulge, have been reported, thanks to the muscle-sparing nature of DIEP flaps.
Patients often express high satisfaction with the DIEP flap reconstruction procedure due to their natural aesthetic outcomes and reduced abdominal morbidity. Also, plastic surgery at Cleveland Clinic Abu Dhabi has initiated lymph node transfer techniques which combine DIEP with lymph nodes to treat established lymphedema of the arm.
Dr. Gurunian, observes: “In the world of advanced medical procedures, outcomes aren’t just measured in success rates or statistics. They’re measured in the renewed hope, restored confidence, and improved quality of life that our patients experience. Whether it’s lymphedema preventive supermicrosurgery or the transformative power of the DIEP flap breast reconstruction, our goal is to redefine what’s possible and empower our patients to embrace life after cancer with strength and grace.”
Dr. Nahla Al Mansoori, Department Head of Plastic and Reconstructive Surgery at Healthpoint said, “It’s our responsibility to make the patient feel that we are part of their treatment journey. We are with them before, during, and after treatment, and are always available to answer questions.”
Holistic approach
This holistic approach involves a collaborative effort among various specialists, including breast surgeons, oncologists, plastic surgeons, internal medicine physicians, psychologists, rehabilitation specialists, physiotherapists, and nutritionists. Such comprehensive support addresses not only the medical needs but also the emotional and psychological well-being of patients.
The psychological and emotional impact of plastic surgery on breast cancer survivors cannot be overstated. Dr. Al Mansoori said: “The aesthetic aspect holds particular significance for female patients as the breast plays a substantial role in their feminine identity”.
As such, plastic surgery plays a pivotal role in helping patients regain self-esteem, body confidence, and even maintain healthy psychosexual relationships. In most cases, breast reconstruction can be performed simultaneously with a mastectomy, a procedure commonly referred to as ‘immediate reconstruction.’
It’s our responsibility to make the patient feel that we are part of their treatment journey. We are with them before, during, and after treatment, and are always available to answer questions.
"Alternatively," she said, "reconstruction can also take place weeks, months, or years later, known as ‘delayed reconstruction.’ Immediate reconstruction, performed right after a mastectomy, can significantly enhance a patient’s body image and overall well-being.”
On the occasion of Breast Cancer Awareness Month this October, experts have renewed their call for women to proactively prioritize their breast health.