Breast cancer risk doubles for women with a family history of the disease

• Cancers linked to genetic mutations often occur in people under 60.

• Up to 80 per cent of women diagnosed with breast cancer have no family history of the disease.

October 2022.- Both women and men with a family history of breast cancer should know how important it is to carry out monthly self-exams and see their doctor if they notice any changes.

Genetics play a dominant role in treatment planning for breast cancer. Where appropriate, family-based risk assessments and genetic testing can provide a basic understanding of the structure and function of genes and help determine the best treatment option.

Dr. Elizabeth Stone of Cleveland Clinic’s Department of Hematology and Oncology said the risk of breast cancer doubles for women with an immediate family member who has had breast cancer: approximately 20 to 30 per cent of women diagnosed with breast cancer have a relative who has also had it, according to data from the American Cancer Society.

However, up to 80 per cent of women diagnosed with breast cancer have no family history, and the cancer is thought to result from genetic abnormalities caused by the natural ageing process. The American Cancer Society notes that 5-10 per cent of breast cancers are thought to be linked to genetic mutations a woman inherits from her mother or father.

The most common genes associated with hereditary breast cancer risk are the BRCA1 and BRCA2 genes. A blood test is needed to determine whether a patient carries either gene, with results typically available within a few weeks.

A patient’s story

The story of 37-year-old María serves as a warning: despite knowing her family history, she put off seeing a doctor.

She emigrated from Venezuela to the United States in 2016; 12 years earlier her mother had been diagnosed with breast cancer at 50, and tests showed she carried the BRCA1 gene.

María knew she needed genetic testing, but because of her many commitments she didn’t have it until 2019, when she learned she carried the BRCA1 gene. Her doctor recommended she see an oncologist at Cleveland Clinic Florida, but she postponed her appointment because of the pandemic.

It wasn’t until June 2021 that she noticed a lump in her breast and went straight to Cleveland Clinic; unfortunately, at just 36, she was diagnosed with triple-negative breast cancer, one of the most aggressive breast cancers.

María has now completed her treatment and is doing very well. She will have a hysterectomy, as the BRCA1 gene gives her a higher chance of developing another gynaecological cancer.

Recommendation

Dr. Elizabeth Stone, who treated María at Cleveland Clinic, citing the National Comprehensive Cancer Network (NCCN), recommends that everyone diagnosed with metastatic breast cancer have genetic testing for inherited BRCA1 and BRCA2 mutations.

It affects men too

For most people, breast cancer is a disease that affects women, but men can develop it too, although breast cancer in men is rare (less than 1% of all new breast cancer cases).

Risk factors for men are similar to those for women, but also include testicular conditions, oestrogen exposure and Klinefelter syndrome, a congenital condition that affects about 1 in every 1,000 men.

The risk of breast cancer in men increases with age, and it is most commonly diagnosed between the ages of 50 and 70. Cancers linked to genetic mutations often occur in people under 60.

The symptoms of breast cancer in men are very similar to those in women. However, tumours are usually smaller but may be more advanced at diagnosis because men have very little breast tissue, so the tumour doesn’t have much room to grow before it invades other tissues or the lymph nodes.

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About Cleveland Clinic

Cleveland Clinic is a nonprofit multispecialty academic medical centre that integrates clinical and hospital care with research and education. Located in Cleveland, Ohio, it was founded in 1921 by four renowned physicians with a vision of providing outstanding patient care based on the principles of cooperation, compassion and innovation. Cleveland Clinic has pioneered many medical breakthroughs, including coronary artery bypass surgery and the first face transplant in the United States.

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