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.”

Female breast cancer was the most commonly diagnosed cancer among women in India in 2024, with an estimated 237,231 new cases and 96,100 deaths, according to the International Agency for Research on Cancer (IARC).

Despite the importance of early detection, screening uptake remains low. Experts say India needs better access to screening and approaches tailored to age, breast density and individual risk.

Dr. Sandeep Nayak, Chairman of Oncology at MACS-Renova Oncology Institute, KIMS Hospital, Bengaluru, told HealthandMe that population-wide screening remains a distant goal, with opportunistic screening still the norm.

“Because of this, applying blanket Western guidelines is ineffective. We need a pragmatic, age-stratified approach to imaging: utilizing breast ultrasound (USG) for women aged 35 to 45—where dense breast tissue severely limits mammogram sensitivity—and reserving routine mammography for women above 50, where tissue density decreases and diagnostic yield peaks,” he said.

Why Is Breast Cancer Still Diagnosed Late in India?

Also read: World Breast Cancer Day 2026: Life After Breast Cancer, The Fear No One Sees

“The alarming epidemiological paradox is that while our incidence is a third of Western nations, our death rate already surpasses theirs. The issue is not that this cancer has an aggressive biology in India; it is the timeline of discovery,” said Dr. Navin Gnanasekaran, Head of Clinical Services, Radiology and Interventional Radiology for the Apollo Group Chennai Region.

Dr. Gnanasekaran said more than 60% of breast cancers in the United States are diagnosed while still localized, with five-year survival exceeding 90%. In India, many cases are detected after the cancer has spread beyond the breast, contributing to a five-year survival rate of 66.4%, he said.

India introduced population-based screening for common noncommunicable diseases in 2016 under the National Program for Prevention and Control of Cancer, Diabetes, Cardiovascular Diseases and Stroke (NPCDCS), launched in 2010. The program includes breast cancer screening among women aged 30 and above.

However, National Family Health Survey-5 (NFHS-5) data show that only 0.9% of women aged 30–49 had ever undergone a breast examination for cancer detection. Dr. Gnanasekaran placed the median age of breast cancer onset in India at around 45.

Should Mammograms Start at 40—or Later?

Read More: Ozempic-Like Weight-Loss Drugs May Cut Breast Cancer Risk By A Third, Finds Research

Experts differ when routine mammography should begin and whether breast density should influence imaging choices.

Dr. Gnanasekaran recommended digital mammography every two years for women aged 40–60. He proposed linking screening reminders to Ayushman Bharat Health Account (ABHA) IDs, deploying mobile mammography units in rural areas and using validated artificial intelligence (AI) to help interpret scans.

Dr. Nayak recommended ultrasound for women aged 35–45 and routine mammography for those above 50.

Dense breast tissue can make some cancers harder to detect on mammograms. Women at high genetic risk, including those with BRCA mutations or a strong family history, may need earlier surveillance, potentially including contrast-enhanced breast MRI in their late 20s or early 30s, depending on individual risk.

Dr. Gnanasekaran stressed that screening must be supported by accessible diagnostic and treatment services, including timely biopsies.

Is Mammography Safe, and Can It Miss Cancer?

Mammography can miss some cancers, particularly in women with dense breasts. Ultrasound may be added for dense breasts or specific concerns, while MRI is generally used for women at higher risk or in selected situations.

Dr. Garvit Chitkara, Associate Director of Breast Surgical Oncology and Oncoplasty at Nanavati Max Institute of Cancer Care, Mumbai, said the radiation risk from mammography is low, while false-positive results can lead to additional tests.

“At the recommended intervals, mammography does not meaningfully raise your cancer risk. The more real downsides are occasional false alarms that lead to extra tests, which is a reason to have it done at a good centre and discuss any call-back with your doctor,” he told HealthandMe.

A normal mammogram should not be used to dismiss a persistent lump or other breast symptoms. Women experiencing changes should seek medical evaluation even if their most recent screening result was normal.

Which Breast Changes Should You Never Ignore?

Many breast lumps are benign, including cysts and fibroadenomas, but touch alone cannot reliably distinguish a harmless lump from cancer.

“Any new lump, or a lump that is changing in size or feel, should be examined by a doctor. A quick check usually settles it and gives you peace of mind,” Dr. Chitkara said.

Persistent redness, itching or skin thickening, breast dimpling, puckering, an orange-peel texture, nipple retraction or unusual nipple discharge should also be evaluated.

Early breast cancer is often painless. Women should not wait for pain before seeking medical attention.

Molly, a head nurse at a leading city hospital, was diagnosed with breast cancer. Chemotherapy and surgery helped her overcome the disease, but 26 years later, it resurfaced during a routine examination. By then, the experience had faded from the minds of many, including her family.

Molly is not alone. Filmmaker and author Tahira Kashyap was diagnosed with Stage 0 breast cancer, or ductal carcinoma in situ (DCIS), in 2018. She underwent a mastectomy, followed by systemic therapies and chemotherapy. In 2025, she revealed that her cancer had relapsed after seven years.

“Round 2 for me... I still got this,” she wrote, emphasizing the importance of routine screening and regular mammograms.

In 2024, breast cancer caused an estimated 694,000 deaths and 2.4 million new cases worldwide, making it the most commonly diagnosed cancer among women in 164 of 186 countries.

“The last chemotherapy session or final radiation appointment may mark the end of active breast cancer treatment. But for many women, the fear does not end there. ‘What if the cancer comes back?’ can remain an unsettling companion, even on the happiest days,”

Prof. Jyoti Bajpai, Director – Medical, Precision & Immuno-Oncology, Apollo Hospitals, Mumbai & Western Zone, told HealthandMe.

Despite advances in screening and treatment, completing treatment does not mean an immediate return to normal life. As hospital visits become less frequent, friends and family may assume the hardships are over. But survivorship can mark the beginning of a quieter struggle with fear, uncertainty and adapting to a changed body and mind, added Dr. Randeep Singh, Director and Senior Consultant, Oncology Services, Medical Oncology, Haemato-Oncology & BMT, Narayana Hospital, Gurugram.

The Physical and Financial Burden of Survivorship

Also read: Breast Cancer At 26 Sent This US Woman Into Menopause Before 30: What Is The Hidden Toll Of Treatment

Fatigue, joint pain, menopausal symptoms and changes in body image may persist after treatment, Prof. Jyoti noted. Every ache can trigger anxiety, while follow-up appointments can revive old fears.

Restrictive diets, conflicting advice and misinformation can complicate everyday decisions. The pressure to resume family and professional responsibilities may also leave little room for emotional distress.

An Indian study led by the Kidwai Memorial Institute of Oncology in Karnataka and presented at the 2026 ASCO Annual Meeting found that 43% of breast cancer survivors reported persistent fatigue and reduced physical activity, while 71% reported financial concerns.

The Fear of Recurrence

Dr. Randeep described fear of recurrence as one of the most challenging aspects of survivorship.

“Fear of recurrence is one of the most challenging aspects of survivorship. Survivors still may be concerned about the bumps, aches, and pains they experience that are different from those they are used to. You may start to think of things that cause you fear and anxiety: How can it be that I just have a headache, but how can it be that the cancer has returned?”

Scans, blood tests and follow-up visits can also be emotionally draining.

“There may be worry or stress that is hard to describe to someone who's never been through it before. To a survivor, it can be a reminder of all the things that have happened to her and all the things she fears. This worry is not a weakness. The journey from cancer survivor can alter someone's notion of safety, health and the future.”

Changes in Body Image and Intimacy

Read More: Breast Cancer Awareness Day: Experts Explain Most Overlooked Breast Changes That Can Delay Diagnosis In Men

Changes in appearance can affect self-confidence, Dr. Randeep told HealthandMe. Hair may regrow differently, scars may remain, and the loss or reshaping of a breast can change how a woman feels about her body. Physical discomfort, diminished libido or reduced attraction to a partner may also affect intimacy.

“These experiences are so personal. A woman may be thankful to be alive and at the same time mourn the body, energy, or normalcy she had prior to her cancer diagnosis. Both emotions can be experienced at the same time and neither lessens her strength,” he said.

The Loneliness Behind the Smile

During treatment, support may come through phone calls, hospital visits, meals and messages of encouragement. Once treatment ends, that attention can fade as people assume the survivor is fine.

Survivors may also feel pressured to remain positive, particularly when others remind them how fortunate they are to have survived. They may suppress anxiety, sadness or frustration to avoid worrying their families.

Why Support Must Continue After Treatment

Cancer care must extend beyond controlling the disease, said Prof. Jyoti Bajpai, Founder & President-Elect of the Immuno-Oncology Society of India (I-OSI) and Asia Co-Chair of the Society for Immunotherapy of Cancer (SITC).

Alongside appropriate surveillance and management of physical symptoms, women need evidence-based guidance, nutritional support and psychological care. Families must recognize that recovery is individual and that fear of recurrence deserves compassion, not dismissal.

Family and friends, counsellors and breast cancer survivor groups can provide emotional support. Healthy habits, gentle physical activity, adequate rest and honest conversations with healthcare professionals can also help survivors cope. Persistent anxiety, depression or physical symptoms should not be ignored; medical or psychological help should be sought when needed.

Survivorship is a process of rebuilding trust, finding happiness and accepting an uncertain future. The goal is not merely to help women live beyond cancer, but to give them the support, understanding and confidence to live fully again.

“No woman should have to navigate that journey alone,” Dr. Jyoti said.

Adenomyosis is a condition that can affect younger women too. It is not limited to women in their 30s or 40s, although it becomes more common with age. Pooja, a 39-year-old pilot, noticed her periods becoming heavier and more painful. Increasing bleeding left her exhausted, while pelvic pain began interfering with daily life. Further evaluation and imaging revealed adenomyosis. Treatment helped bring her bleeding and pain under better control.

Symptoms such as heavy periods, painful cramps and pelvic discomfort may be caused by adenomyosis, a benign condition in which tissue similar to the uterine lining grows into the muscular wall of the uterus. It is sometimes mistaken for endometriosis because the symptoms can be similar. However, the two conditions are different, although they can occur together.

Adenomyosis can occur across different age groups. Nearly 1 in 10 women with subfertility may have isolated adenomyosis, while pooled studies suggest it may be found in almost 1 in 2 women presenting with pelvic pain.

It can also affect women who are not planning pregnancy. A woman in her 40s or 50s may notice increasingly heavy periods, severe cramps or pelvic pressure that begins interfering with work and daily life. Even after years of having periods without major problems, a sudden change in bleeding or pain should not simply be dismissed as ageing.

What Exactly Is Adenomyosis?

The uterus has an inner lining called the endometrium and a muscular layer called the myometrium. Normally, these layers remain separate. In adenomyosis, tissue similar to the endometrium is found within the muscular wall.

This tissue responds to hormonal changes during the menstrual cycle, contributing to inflammation and thickening of the uterine muscle. The uterus may become enlarged and tender, and periods may become heavier or more painful.

Adenomyosis vs Endometriosis: What’s the Difference?

The main difference between the two conditions is where the tissue grows. In adenomyosis, tissue similar to the uterine lining grows into the muscle wall of the uterus. In endometriosis, similar tissue grows outside the uterus, commonly around the ovaries, pelvic lining and other pelvic organs.

Adenomyosis is more commonly associated with heavy or prolonged menstrual bleeding, severe cramps and pelvic pressure. Endometriosis may more commonly cause pelvic pain, painful periods, pain during sex, or pain during bowel movements or urination, particularly around periods.

However, symptoms can overlap, and both conditions can affect fertility. Therefore, symptoms alone cannot reliably distinguish between them.

What Are the Symptoms?

Some women with adenomyosis have no symptoms, while others experience problems that affect their work and daily activities.

Common symptoms include:

• Heavy or prolonged menstrual bleeding
• Severe period cramps
• Pelvic pain or pressure
• Pelvic tenderness
• Pain during intercourse
• Fatigue associated with heavy bleeding

Heavy bleeding can eventually cause iron-deficiency anaemia, resulting in tiredness, weakness and reduced energy. Adenomyosis may also be identified during an evaluation for difficulty conceiving.

Who May Be At Risk?

Adenomyosis is more commonly diagnosed in women in their 30s and 40s. Previous childbirth, caesarean section and certain uterine surgeries or procedures may be associated with a higher likelihood.

However, these are not requirements, and adenomyosis can occur without them. Age or medical history alone should not be used to rule it out.

Preety, a 32-year-old housewife, was being evaluated for difficulty conceiving. During her fertility assessment, imaging suggested adenomyosis. Her doctors considered her symptoms and reproductive goals while planning treatment.

Her case highlights an important point: adenomyosis does not look the same in every woman, and treatment cannot follow a one-size-fits-all approach.

How Is Adenomyosis Diagnosed and Treated?

Diagnosis usually begins with a detailed discussion about symptoms and medical history, followed by a gynaecological examination where appropriate.

Ultrasound is commonly used as the first imaging investigation, while MRI may be recommended for a more detailed assessment.

Treatment depends on individual needs. There is no single treatment suitable for every woman with adenomyosis. Doctors consider symptom severity, age, overall health, response to previous treatments and, importantly, whether she wants to become pregnant now or in the future.

Management may include medicines to control pain or bleeding, hormonal treatments and, in selected cases, procedures or surgery. Hormonal IUDs may also be considered for women who are not currently planning pregnancy. In severe cases, hysterectomy may be considered when future pregnancy is not desired.

Women planning pregnancy may require a different approach from those who have completed their family.

The goal is to control symptoms, protect quality of life and address reproductive goals.

Don’t Normalise Debilitating Periods

A major challenge with adenomyosis is that its symptoms can be normalised. A woman may spend years believing that extremely heavy bleeding or debilitating cramps are simply part of having periods. They should not automatically be ignored.

If periods become significantly heavier, pain worsens, bleeding causes fatigue or anaemia, or pelvic pain interferes with daily life or fertility plans, a consultation with a gynaecologist can help identify the underlying cause.

Adenomyosis is benign, but living with its symptoms does not have to be accepted as normal. Recognising the signs, getting evaluated and choosing treatment based on individual needs can help women regain control of their reproductive health and quality of life.

(By Dr Kanchi Khurana, Associate Director – Department of Fertility at Cloudnine Group of Hospitals, Chandigarh)