Breast Cancer in Young Women: Fertility and Survivorship

Breast cancer in young women is rising. Women up to the age of 44 account for around 10 per cent of cases, and that share is growing, including among women aged 20 to 34. Because most screening programmes do not reach this group, early detection depends on awareness, and treatment has to plan for fertility, early menopause and bone health from the outset.

Dr. Sahil Bambroo, Senior Consultant, Medical Oncology, BLK-Max Super Speciality Hospital, New Delhi, India, at the time of this masterclass, gave these issues substantial time in his session. His argument was that long-term survivors live with the consequences of treatment for years, and that many of those consequences are easily managed if doctors look for them. This article covers who is at risk, what genetic evaluation adds, and the survivorship issues he singled out. The overall treatment logic is set out in the medical oncology guide to breast cancer management.

Rising incidence of breast cancer in young women

Dr. Bambroo presented age-distribution data showing that around 10 per cent of breast cancer cases occur in women up to 44 years of age. That number is rising significantly, and cases in the 20 to 34 age group are also rising slowly and steadily.

He drew two conclusions. First, doctors need to be watchful, because this is a population that early screening programmes do not cover. Second, it is this population that needs to be educated well enough to notice early signs. Monthly breast self-examination and the warning signs to look for are described in breast cancer warning signs, self-examination and biopsy.

Risk factors for breast cancer in younger women

Among younger women, Dr. Bambroo identified these contributing factors:

• increased body mass index and obesity;
• smoking and alcohol;
• physical inactivity, which itself contributes to obesity;
• higher socioeconomic status;
• certain types of contraception;
• late pregnancy or no pregnancy, and reduced breastfeeding;
• high-penetrance genes and other genetic factors;
• chest radiation in childhood.

Answering a question at the end of the session, he set out the broader risk profile that applies at every age. The most common cause of breast cancer is advancing age: the risk rises as women get older. Other factors are early onset of periods (menarche), late menopause, never having children, having a first child after the age of 35, reduced breastfeeding, smoking, and alcohol consumption of any quantity.

Previous treatment also counts. Anyone who received chest radiation for a childhood lymphoma carries a higher risk of developing a cancer in the chest later in life, breast cancer included.

Genetic risk: BRCA1, BRCA2 and other high-penetrance genes

A high-penetrance gene is one in which an inherited harmful variant carries a large lifetime risk of cancer. Dr. Bambroo showed that every organ system, from the digestive tract to the ovaries, uterus, kidney and thyroid, has cancers associated with such genes, which predispose members of a family to a higher chance of developing that cancer. Breast cancer is no exception. The genes he named include the high-penetrance genes BRCA1, BRCA2, TP53 and PTEN, along with ATM, a moderate-penetrance breast cancer gene, and BRIP1, which is linked mainly to ovarian cancer.

In practice, a woman is at higher genetic risk if a first-degree relative (mother, sister or daughter) has had breast or ovarian cancer, or if she tests positive for one of these high-penetrance genes. Genetic evaluation is one of the components of breast cancer treatment Dr. Bambroo listed: what it finds can change how the patient is treated. Dr. Shrinidhi Nathany explains testing in detail in hereditary cancer testing: BRCA, family risk and prevention.

Breast cancer survivorship starts at diagnosis

Dr. Bambroo's list of what breast cancer treatment must address goes well beyond the tumour: fertility and premature menopause, sexual health and body image, psychosocial functioning, the patient's ability to resume her roles, and rehabilitation after treatment. For a young woman, these are not afterthoughts. They shape the choice of drugs at the start of treatment and the quality of the years that follow.

He was also clear about where these problems surface. Patients often bring them to their primary care physician, during or after treatment. In a busy comprehensive cancer setting such symptoms can be overlooked, and patients often feel shy about raising them. Yet they matter a great deal to patients, they can trouble long-term survivors for years, and many patients and doctors do not realise that they are easily manageable.

Managing menopausal symptoms after breast cancer

Many patients develop menopausal symptoms during and after treatment, and young patients often develop them early. Dr. Bambroo's approach has four parts:

1. Minimise irritants that aggravate local symptoms.
2. Use adequate medication for local control of symptoms.
3. Limit vaginal hormones, using them only in certain cases.
4. Add psycho-oncology support and pelvic floor exercises, both of which help with these symptoms.

The message for the doctor who sees these patients in follow-up is to ask, because patients may not volunteer the problem, and to treat, because effective options exist.

Bone health during hormonal treatment for breast cancer

Hormonal treatment, which many patients take for years, can weaken the bones. Patients over 65 may already have weak bones and a higher chance of osteoporosis before treatment begins. Dr. Bambroo's recommendations:

• Monitor bone mineral density (BMD) with a DEXA scan, every two years or annually depending on the patient's baseline condition.
• Treat when needed with zoledronic acid (a bisphosphonate) or denosumab.
• Keep bone health on the follow-up checklist for years after active treatment ends, because it is easily missed when patients return for routine reviews.

A DEXA (dual-energy X-ray absorptiometry) scan is a low-dose X-ray that measures bone density and is the standard test for osteoporosis.

Fertility preservation in breast cancer

Fertility was the last major point of the lecture. Many patients want to have children, and with cases rising among young women, this is becoming a more frequent problem. Chemotherapy can be a major deterrent to ovulation and to reproductive health in general. Dr. Bambroo outlined the options for preserving ovarian function:

1. Choose chemotherapy drugs with fertility in mind. The choice of drugs is one of the factors to weigh in a woman who wants children.
2. Offer cryopreservation. Freezing eggs or embryos before treatment should absolutely be considered in women who wish to have children.
3. Use GnRH analogues during chemotherapy if cryopreservation is not possible in the initial phase. These drugs temporarily suppress the ovaries and are recommended during chemotherapy to preserve ovarian function, so that some ovarian reserve remains after treatment and a normal pregnancy can be attempted later.

Guidelines (ASCO, ESMO) support GnRH analogues for protecting ovarian function during chemotherapy, but not as a substitute for egg or embryo freezing, which remain the established methods of fertility preservation.

Costs for egg and embryo freezing sit with IVF and fertility treatment.

Pregnancy after breast cancer: pausing hormonal treatment

For women on long-term hormonal treatment, interrupting it to attempt pregnancy is possible in certain patients. Dr. Bambroo noted that trials have shown such an interruption does not increase the short-term risk of breast cancer recurrence. He cautioned that the data are still early, and that this should be done only after consultation with the treating oncologist.

What this means for doctors referring young women

Taken together, these points give the doctor who sees a young woman with a breast problem a short checklist:

• Treat any breast change in a woman under 45 with the same seriousness as in an older woman, since screening programmes do not reach her.
• Take a family history and a radiation history, and consider genetic evaluation.
• Raise fertility before chemotherapy starts, not after.
• Ask about menopausal symptoms and sexual health at every follow-up.
• Check bone density for patients on hormonal treatment.

Doctors' questions from the session, including the full list of breast cancer causes, are answered in the Live Discussion. For how breast cancer presents and is worked up alongside other cancers in women, see the diagnostic workup for breast, ovarian and cervical cancer.