For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.

A Breakthrough

Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.

When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.

“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.

Families Who Solved The Mystery

Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.

The Domino Effect

It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.

To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.

Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.

“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”

When Andrea de Armas was diagnosed with breast cancer at 26, she was preparing for a future that looked very different from the one she was suddenly handed.

Along with surgery and chemotherapy, she had to make decisions about her fertility and adjust to the of long-term consequences from treatment.

Now 30 and cancer-free, the US woman is still taking hormone therapy. The treatment has put her into temporary menopause.

“I’m really lucky. I feel like I’m doing OK,” de Armas told CBS News. “It took me a little bit to kind of adjust. It wasn’t immediate; it took time. It took understanding the kind of changes my body was going through. But I’m able to live a pretty normal life for a 30-year-old.”

Andrea’s experience highlights a revealing challenge of breast cancer in younger women. Young women who survive breast cancer face a series of emotionally heavy decisions about menstrual cycles, fertility, sexual health and emotional well-being, and menopause that comes decades earlier than expected.

Effects Of Breast Cancer Treatment On Young Women

Also read: Why Peak Incidence For Breast Cancer In India Occurs Between Ages 40–50, Compared To 60–70 In The US & Europe

De Armas initially struggled to get her concerns taken seriously. She was eventually diagnosed with breast cancer in 2023 and discovered that she carried a genetic mutation associated with an increased risk of the disease.

She underwent a lumpectomy in June, followed by chemotherapy. She later had a bilateral mastectomy and reconstruction, scheduling treatment around her studies so she could continue her physician assistant programme.

“We worked together as a team,” said Dr. Cristina Lopez-Penalver, the surgical oncologist at Baptist Health's Herbert Wertheim Cancer Institute who treated her. “She was really not about ready to let this breast cancer get in her way.”

De Armas graduated as a physician assistant in 2025 and began working a month later. However, despite completing surgery and chemotherapy, she continues to take hormone therapy because of the characteristics of her cancer.

That medication has placed her in temporary menopause, a treatment-related effect that can be particularly difficult for younger women to navigate.

Early Menopause Due To Hormone Therapy

Also read: Breast Cancer: Know the Risks, Recognise the Signs & Get Checked

Menopause occurs when the ovaries stop releasing eggs and producing lower levels of hormones, particularly oestrogen.

Although natural menopause usually occurs in the late 40s or early 50s, some cancer treatments can bring on menopause much earlier.

According to the American College of Obstetricians and Gynecologists (ACOG), chemotherapy can damage the ovaries, causing periods to become irregular or stop altogether.

Hormone therapy can also block oestrogen's effects to help prevent hormone-sensitive breast cancer from returning.

Some women experience temporary ovarian suppression, in which medication switches off ovarian function during treatment.

Others may develop permanent ovarian damage and early menopause. The outcome depends on the treatment, the woman's age and her ovarian function before treatment. In de Armas' case, hormone therapy has brought on temporary menopause.

The transition can be more abrupt than natural menopause, leaving women with symptoms that affect daily life. Common effects include:

• Hot flashes and night sweats: Sudden waves of heat and sweating can disrupt sleep and daily activities.
• Sleep disturbances and mood changes: Hormonal changes may contribute to insomnia, irritability and low mood.
• Vaginal dryness and sexual discomfort: Reduced oestrogen can affect vaginal tissues and sexual health.
• Changes in fertility: Damage to ovarian function can reduce the chances of conceiving naturally, sometimes permanently.
• Bone health concerns: Low oestrogen levels can accelerate bone loss, increasing the risk of osteoporosis over time.

The National Cancer Institute notes that treatment-related ovarian insufficiency can also cause joint pain, reduced libido and difficulty concentrating.

Menopause is often characterised symptoms like by hot flashes and night sweats. But for some women, the transition can also bring changes in mood, memory and concentration that may be harder to identify. These symptoms can affect everyday life and may be misconstrued as stress, ageing or the emotional effects of children leaving home.

On World Menopause Day 2026, Dr. Abha Majumdar, gynaecologist and one of the lead IVF specialists in the country, told HealthandMe that women and their families need to identify the least obvious symptoms of perimenopause, the transition leading up to menopause.

Menopause Symptoms Dismissed For Empty Nest Syndrome

Empty nest syndrome refers to the feelings of grief, loneliness or loss of purpose that some parents experience when their children leave home to study, work or start their own families. The transition can bring changes to family routines and relationships, especially for parents who have spent years raising their children.

Dr Abha points out that mood changes in women during their 40s should not automatically be attributed to empty nest syndrome.

Perimenopause, the transition leading up to menopause, can also involve mood swings, forgetfulness and difficulty managing everyday tasks.

As she puts it, “Suddenly, around 45 or around that time, she starts feeling depressed. Everyone says, "Oh, children have grown up, you know, it is like an empty nest. But it is not just an empty nest.”

Recognising the symptom is key so that women experiencing new or persistent symptoms are not dismissed as simply struggling with their children leaving home, and can seek medical advice when needed.

Also read: World Menopause Day 2026: Perimenopause Can Begin In Your Late 30s. What Changes Should You Watch For?

Symptoms Not Related To Menstrual Cycle

Perimenopause can bring changes that don't relate to menstrual or hormonal cycle. Women may find themselves to be forgetful about routine things, struggle to concentrate or feel overwhelmed by tasks they previously managed with ease.

Dr Abha explains how these changes may appear in everyday life. She said, “She starts forgetting. She starts finding it difficult to cope with the daily chores which she did very easily before that.”

She says women may also face cognitive symptoms like brain fog and mood swings during this phase. She said, “Forgetfulness, cognition difficulties, brain fogging, mood swings.”

These symptoms can be confusing when women do not know that they come with menopausal transition. Changes in mood, for instance, may be misconstrued as reaction to family responsibilities, work stress or other pressures, while difficulties with memory and concentration may completely go unnoticed.

Also read: Menopause Abruptly Shifts Bones, Liver And Blood Fats, Study Finds

Perimenopause Duration

Perimenopause does not begin at the same age for everyone. Also, the transition may continue for several years before menopause sets in.

Dr Abha said that perimenopause may last for five or even 10 years before menopause sets in. She also said that fluctuating oestrogen levels are part of this phase.

“She's probably going through a perimenopause, which is it estrogen deprived and then comes up, goes down and comes up, and goes down and comes up. It may take couple of years for menopause to set in," she said.

Since the transition can be prolonged, understanding its symptoms is important for women as well as their families. Dr Abha explains that husbands and adult children should be attentive to changes in a woman's behaviour, mood or ability to manage familiar routines, rather than dismissing them.

She also stresses that women's health after menopause deserves attention, particularly as life expectancy increases.

She said, “Please support her at that time because she's got 25 years more to live right away. Maybe more.”

Medical Attention

Mood changes, fatigue, sweating and memory difficulties should not automatically be attributed to menopause. Other health issues can produce similar symptoms, which makes medical attention important.

Dr Abha advises women to seek help whenever they notice a change that makes everyday activities more difficult.

She said, “Any point. If she feels something is happening to her, she's not being able to cope with her daily chores. She used to cook so effortlessly, now it takes a lot of effort. She starts getting tired, she sweats. That is the time. May it be 40, may it be 45, may it be 38 also.”

A doctor can assess menstrual cycle and determine whether symptoms are related to perimenopause or another condition. Dr Abha says investigations may also help identify other possible explanations, including vitamin deficiencies or thyroid problems.

“So, they can be sorted out. So don't avoid going to a doctor if you feel something is changing in your body. And what you were coping with earlier, you're not being able to cope with that.”

Breast cancer is generally considered to be a problem of old age. In India, however, breast cancer is usually diagnosed in women who are in their 40s and 50s, a decade before the average age group in several other parts of the world. While this difference has clinical significance, the reasons behind it are varied and cannot be pinned down to any one biological or genetic cause.

Reproductive and lifestyle differences

Age, hormones, heredity, reproductive history and environment play roles in determining the risk of breast cancer. Historically, differences in age at first birth, number of pregnancies and breastfeeding period could have been responsible for the variance seen in risk levels across populations. Presently, the changing pattern of reproduction, late age of first pregnancy, lower number of births and less breastfeeding among certain groups of Indians could affect the risk of breast cancer.

Other changes include dietary, physical activity and body weight trends due to urbanization. Being overweight, especially postmenopausal, and excessive alcohol intake are known risk factors for breast cancer. But this alone does not account for the difference in age profile of breast cancer in India.

Genetic susceptibility is another factor which needs to be taken into account. Mutations in the inherited genes, including BRCA1 and BRCA2, may lead to the increased risk of development of breast cancer in young women. Nonetheless, there is no sufficient information to suggest that a particular genetic background specific for the Indian population contributes to this difference. More research in the field of genomics is needed.

Another thing to take into account is that the young age of the patients does not mean that the breast cancer occurs more frequently in India compared to other countries. Higher age-standardized incidence rates have been observed in Western countries due to reproductive behaviors, lifestyles, and screenings. Younger age of Indian patients may also be explained by demographic factors, as well as the difference in screenings and diagnoses.

Also read: Breast Cancer: Know the Risks, Recognise the Signs & Get Checked

Do young Indian women tend to develop aggressive cancers?

Indian cancer centers report significant shares of hormone receptor-negative, HER2-positive, and triple-negative breast cancers, as well as a more advanced stage of the disease at the time of diagnosis. Aggressive biological types among these subgroups might require aggressive therapy.

Nonetheless, it is critical not to generalize this information and apply it to all Indian women and breast cancers developed at a younger age. It may be questioned whether hospital-based studies reflect the whole population, as there is variation in tumour subtypes within the population.

Late diagnosis is one of the main problems. Poor awareness, fear and stigma, family obligations, financial constraints and delayed health-care visitation result in growth and spread of tumours before starting treatment. Young women may ignore a breast lump because they think that being young prevents them from developing breast cancer. It may be dangerous.

Should breast cancer screening start early in India?

The issue requires clarification between awareness, diagnosis and screening.

Breast awareness should start in early adulthood. Women should be aware of their normal breast condition and have an immediate medical check up if they find any changes such as a breast lump, nipple retraction, bleeding nipple discharge, skin dimpling and others, regardless of age. Suspicious change requires diagnosis rather than waiting until next screening examination.

In asymptomatic women, it is necessary to determine the ideal age and screening method according to Indian conditions. Mammography is well-known screening tool, ultrasound could assist in evaluating dense breast tissue in younger women. Both should not be over-used without proper medical evaluation. Women who have a robust family history or those carrying high-risk genes should have an earlier and more rigorous surveillance program.

What India requires is a systematic and risk-appropriate early detection program that includes public awareness, medical evaluation, screening, and treatment.

The bottom line is that breast cancer does not occur only among older patients. Early detection of symptoms and changes can make a difference in saving lives.

By Dr Sewanti Limaye, Director of Medical & Precision Oncology, Sir H. N. Reliance Foundation Hospital, Mumbai