49,XXXXY syndrome – Genetics Home Reference

49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.

Boys and men with 49,XXXXY syndrome have mild or moderate intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. People with 49,XXXXY syndrome tend to be shy and friendly, but problems with speech and communication can contribute to behavioral issues, including irritability, difficulty tolerating frustration, defiant behavior, and outbursts or temper tantrums.

49,XXXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected infants and young boys are often shorter than their peers, but some catch up in height later in childhood or adolescence.

Other physical differences associated with 49,XXXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (), elbow abnormalities, curved pinky fingers (fifth finger ), and flat feet (). Affected individuals have distinctive facial features that can include widely spaced eyes (), outside corners of the eyes that point upward (), skin folds covering the inner corner of the eyes (epicanthal folds), and a flat bridge of the nose. Dental abnormalities are also common in this disorder.

49,XXXXY syndrome disrupts male sexual development. The penis is often short and underdeveloped, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes do not produce sperm, so all men with 49,XXXXY syndrome are infertile.

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How Do Clinical Trials Work?

Clinical trials help researchers find out if a new treatment is safe. So what’s involved?

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Heart-Healthy Recipe of the Week

Staying healthy can be a challenge, but simple lifestyle changes can help a lot—like eating heart-healthy meals and being physically active. Research shows that these changes can help reduce the risk of heart attack and stroke.

These recipes from the NIH’s National Heart, Lung, and Blood Institute show you how to prepare tasty, heart-healthy meals that are limited in fat, cholesterol, and salt. They use fat-free milk, small amounts of vegetable oil, lean cuts of meat, poultry without the skin, fish, beans, whole grains, fruits, vegetables, and lots of fresh herbs and spices for flavor. Try these recipes as part of your heart-healthy diet.

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Exercises for Better Sex

From the WebMD Archives:

Sure, exercise can tone and make your body more attractive, but did you know it can also improve your sex life?

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Today is Metastatic Breast Cancer Awareness Day | What are the MBC Statistics?

For more than 160,000 women and men living in the U.S. with advanced, stage IV breast cancer, the situation is dire.  They odds are against them, and Breast Cancer Awareness Month often leaves them with Pink Fatigue.  They cannot turn off the barrage even when they turn off their TV sets or avoid pink-decorated malls and pink splashed social feeds. 

October is for the 70% of folks whose cancer is contained.  Instead, those living and coping with the metastatic form of the disease, active treatments, and side effects are all too aware there is no known cure. Their outlook is tempered, maybe best portrayed in a spectrum of gray.

In October of 2009, the U.S. Senate and House voted to support the designation of October 13 as a National Metastatic Breast Cancer Awareness Day. The point of those proclamations was to draw attention to the needs of the metastatic breast cancer community.

What is Metastatic Breast Cancer?

Metastatic breast cancer – cancer that travels from the breast and spreads to other parts of the body – is treatable, but not curable. Though exact statistics are unknown, an estimated 160,000 people are living with the disease in the United States.

Those with metastatic breast cancer face challenges different from those with early stage because metastatic breast cancer patients are always in treatment. They experience ongoing anxiety and fear knowing they will die one day from the disease.

 

Metastatic Breast Cancer:  A Fact A Day — 31 days of October

 

What is Metastatic Breast Cancer?  (pronounced as Met-a-STA-tic)

MBC also known as Stage IV is cancer that has spread outside of the breast to other organs such as bones, liver, lung or brain. This process is called metastasis. (pronounced as Me-TAS-ta-sis)

What happens when breast cancer spreads?

Breast cancer that spreads to another organ, such as bones, lung, or liver, is still breast cancer and does not become bone cancer or liver cancer or lung cancer.  Under a microscope, the tumor cells will still look and act like breast cancer and will be treated as breast cancer.

Who gets metastatic breast cancer?

No one brings metastatic disease on themselves. The sad truth is that anyone who has had an earlier stage of breast cancer can experience a metastatic recurrence and some women have metastatic disease on their initial diagnosis of cancer–despite mammograms and early detection!

Why does breast cancer metastasize? (pronounced as Me-TAS-ta-size)

Researchers at this time can’t explain why metastatic disease occurs, but they’re working on finding answers. Early detection is a detection tool, but it does not a cure or prevent an early cancer from coming back in the future as metastatic disease.

What are the statistics on incidence of metastatic breast cancer?

There are estimates that 20-30% of patients with an early stage cancer will have their cancer return as metastatic, even if they were told their early stage cancer had been “cured.” Another 8% of new breast cancer cases are found to be metastatic at their initial diagnosis.

What is the main difference between early stage breast cancer and metastatic breast cancer?

Metastatic Breast Cancer (mbc) is treatable but no longer curable. Treatment is lifelong and focuses on preventing further spread of the disease and managing symptoms. The goal is for patients to live a good quality of life for as long as possible.

How is metastatic breast cancer treated?

Depending primarily on the kind or subtype of mbc, patients may be on either targeted therapies or systemic chemotherapy. Radiation and surgery are also sometimes used.

What are the different kinds (subtypes) of metastatic breast cancer?

Subtypes for early stage and metastatic breast cancer are the same: An estimated 65% of patients have Hormonal (estrogen or progesterone driven), also called ER+/PR+; 20% have Her2+(fueled by a protein identified as Her2 neu) and 15% have Triple Negative Breast Cancer (TNBC- which does not have any of the 3 above known biomarkers: ER. PR or HER2). These numbers are approximate, because some people have more than one subtype ( HER2+ and ER+) or their subtype may change over time.

How many women and men die of breast cancer each year?

Approximately 40,000 die of breast cancer each year—a number that essentially is unchanged over the last 20 years. All deaths from breast cancer are caused by metastatic breast cancer.

How many people are living with mbc in the US?

Although the National Cancer Institute collects statistics of patients who have an initial diagnosis of mbc, the NCI does not count metastatic breast cancer recurrences.  Studies estimate that there are over 155,000 women and men living with metastatic breast cancer in the US–and doing our best to live well!

Is metastatic breast cancer a chronic disease?

Not yet, but that is an important goal. As researchers identify more and better treatments, MBC could become a chronic disease like diabetes or HIV/AIDS, where patients can be stable on medications for 20 or more years.

How much is spent on research funding for metastatic breast cancer?

Several years ago, the Metastatic Breast Cancer Alliance did a study that found that of all research grants, funded by major public and private sources from 2006-2013, only 7% of funds studied metastatic breast cancer, even though metastasis is what causes breast cancer to become a deadly disease.

What is National Metastatic Breast Cancer Awareness Day?

October 13 was sent aside by unanimous House and Senate resolutions in 2009, establishing that one day in October should recognize and bring awareness to metastatic breast cancer. One day is not enough, but it’s a start for year-round awareness of what mbc is and why it’s important for all of us. History of MBC National Awareness Day >

Do men get breast cancer?

Yes, men do get breast cancer and they are often misdiagnosed initially. They represent about 1% of the new cases of breast cancer and 1% of the deaths from metastatic breast cancer. (410 deaths in 2012)

Do young women get metastatic breast cancer?

YES. For young women under 40: 5% of the new cases of breast cancer and 3% of the deaths. Metastatic breast cancer is the leading cause of cancer deaths in this age group. For young women under 50: 27% of the new cases of breast cancer and 16% of the deaths.

How is metastatic breast cancer monitored?

Usually MBC is monitored by periodic imaging tests (CT, PET or bone scans or MRIs), blood tests measuring tumor markers and assessment of how the patient is feeling.

How often are patients living with metastatic breast cancer scanned?

Usually we are scanned every 3 months; if metastases remain stable or shrink, scans may be done less frequently (eg every 6 months).

What is scanxiety?

Scanxiety refers to patient anxiety over scans and occurs as their scan date approaches. Good test results refer to stable disease (mets are not growing or spreading) or NED (no evidence of disease) on scans.

What is NED (no evidence of disease) and how does it differ from being ‘in remission’ or being ‘cancer free’?

No Evidence of Disease means that the metastases are no longer detectable on an imaging scan. This is great news, but because breast cancer cells are still circulating in the body, treatment continues. ‘In remission’ is an older term and not usually used in metastatic breast cancer. Once you are metastatic, you are never ‘cancer-free,’ but being NED or being stable are still wonderful words to hear from your oncologist.

Why does treatment for metastatic disease seem ‘less aggressive’ than treatment for early stage disease? Why does everything feel less urgent, despite a much more serious prognosis?

Treatment of early stage disease focuses on curing the cancer and therefore is immediate and aggressive. Because there is no cure for mbc at this time, treatment focuses on controlling the disease and permits a more measured, long-term approach to therapy, with hopefully more attention directed to long term quality of life and reducing or preventing adverse side effects of treatments.

People often ask, ‘Why do you look so good, if you have an incurable cancer?’

Metastatic breast cancer has its ups and downs. Sometimes, we may be feeling relatively good and are living with stable disease. Other times we may be experiencing a lot of side effects. If hair loss isn’t one of them, people may not notice. Even when the disease is progressing, we may still look ok, up to a certain point.

What are clinical trials and are they a ‘last resort’ when all other treatments fail?

Not at all. Clinical trials are controlled treatment studies on new drugs and are the method used to obtain FDA approval of new treatments. They should be an option considered right from the beginning of treatment for MBC patients, along with standard treatments. A clinical trial may or may not be right for an individual and should be discussed with the oncologist.

What are the types of clinical trials and what’s the advantage to participating?

Phase 1 and 2 trials involve a relatively small sample size of people (sometimes less than 100) and determine dosage, safety and effectiveness of the new drug. If results are favorable, a phase 3 study is launched which is on a large scale, involving multiple clinical sites across the country (and sometimes worldwide).  A trial compares the current standard of care to the new treatment. While there are always risks and benefits, participation, especially in a phase 3 study, can give someone access to the latest promising drug, long before it comes to market. Clinical Trials Q&A

What does it take in terms of time, money and research to bring a new drug to market?

On average, it takes 8-10 years and approximately $1 Billion for a new drug to go from a chemistry model to FDA approval. Overall only 11% of drugs that start in clinical trials are eventually approved, but 34% of Phase 3 Clinical Trial drugs are approved. “Every advance in breast cancer treatment and care has been the result of a clinical trial.”

Why are people living with MBC seldom acknowledged during breast cancer awareness events?

As a practical matter, someone with metastatic breast cancer will be outnumbered…at awareness walks, at treatments centers, everywhere. Of the 3.5 million US people living with a history of breast cancer (all stages), an estimated 155,000 have Stage IV breast cancer. This means when the average person thinks about breast cancer, they aren’t thinking about people with MBC. They are thinking about family and friends who had early-stage disease, were treated and, to their knowledge, are fine. This is certainly understandable–but an ongoing challenge and one we must address if we want to make any meaningful progress in terms of education, awareness and scientific progress. We need early-stage breast cancer patients to help us out–to advocate for more research, encourage greater clinical trial participation and address health inequities.

The first thing many people say, when they get breast cancer, is that they have no family history, so how can this be happening to them?

Family history is a risk factor for less than 15% of those diagnosed, which means that 85% of breast cancers are not caused by family history.

What does being BRCA positive mean?

Having an abnormal or mutated BRCA1 or BRCA2 gene means that the risk of developing breast or ovarian cancer dramatically increases, but not everyone with a BRCA mutation will get cancer. Mutations in these genes are rare in the general population and higher in certain ethnic subgroups, such as those of Ashkenazi Jewish descent. Overall, BRCA mutations account for 5% of all breast cancers.

What is Inflammatory Breast Cancer?

Inflammatory breast cancer (IBC) is a rare and very aggressive disease in which cancer cells block lymph vessels in the skin of the breast. This type of breast cancer is called “inflammatory” because the breast often looks swollen and red, or “inflamed.” Because it is difficult to diagnose and often mistaken for other conditions, patients with IBC are usually diagnosed at stage III or IV. http://1.usa.gov/jrbWt

Is there a difference between palliative care and hospice care?

Yes! Although many people think they are synonymous, palliative care should be part of each person’s cancer care right from the beginning. Palliative care is treatment of side effects, stress and pain. Studies have shown that palliative care not only improves quality of life, but also can extend life by several months.

Why should everyone care about metastatic breast cancer?

Early detection does not guarantee a lifetime cure, and treating early stage breast cancer does not mean the person will never have breast cancer again. Metastatic breast cancer can occur 5, 10 or 15+ years after a person’s original diagnosis and successful treatment. An estimated 20-30% of women initially diagnosed with an early stage cancer will go on to be diagnosed with metastatic breast cancer.

What’s the message from those of us living with metastatic breast cancer for this last day of Breast Cancer Awareness Month?

Live Life Fully Every Day! Let’s celebrate that we survived another PinkTober!

 

Conclusion

 

Women (and men) do not die from breast cancer. They die when their breast cancer metastasizes and spreads to other parts of the body. There has been a huge push for breast cancer awareness in the past two decades, with a tremendous focus on prevention and early detection.

We wish these efforts had been successful. But the simple truth is that after two decades and billions of dollars, breast cancer has not been prevented and early detection has proven no guarantee against metastasis and death.  While these billions have been focused elsewhere, almost 1,000,000 American women and men have died while waiting for research funds to finally be shifted to metastasis research. This tragic truth is lost in the sea of pink promotions. 

Too often, breast cancer organizations and even breast cancer surgeons and oncologists imply metastasis is rare or the fault of the patient.  Breast cancer survivors are often in complete denial that MBC could ever happen to them.   The “pink world” goes to great lengths to suppress the reality of our disease — that it happens to one-third of the breast cancer community, largely for unknown reasons.  The Elephant in the Pink Room campaign by Metavivor pushed recognition of metastatic disease because with recognition, the support so necessary for the MBC patient and the research that could halt death for so many, will continue to ne minimal.

Thirty percent of women and men who are diagnosed with breast cancer will eventually develop stage 4 (metastatic) breast cancer and die. Yet of all the money dedicated to breast cancer research, only 2% is earmarked specifically for metastatic research. Cancer organizations must devote thirty percent of their research budget to research that will help the 30 percent of women and men whose cancer metastasizes. The surest way to save the lives of patients already diagnosed with breast cancer is to find a way to make MBC survivable.

For metastatic breast cancer patients, it’s about time. Time to spend with their families, time to cross something off their bucket list, time to simply drive the carpool or cook a meal.

It’s also about time we increased awareness of the disease, time we developed more treatments to help metastatic patients live longer, time there was more recognition and support of those managing this disease.

As we approach the middle of Breast Cancer Awareness month, take time to raise awareness about metastatic breast cancer. Consider what time means to you and your family?  What would you do with more time?

The reality of metastatic breast cancer can be frightening for patients and their families.  Find great medical teams working to give you more time in our comprehensive platform built to connect patients with their families and the physicians who care for them

Ready to get Lynked?  Go to HealthLynked.com to sign up for free.  Isn’t it about time we all Crush Cancer?

 

Sources

 

Mbcn.org

METAvivor.org

HuffingtonPost.com

 

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Noticing Memory Problems? What to Do Next

We’ve all forgotten a name, where we put our keys, or if we locked the front door. It’s normal to forget things once in a while. But serious memory problems make it hard to do everyday things. Forgetting how to make change, use the telephone, or find your way home may be signs of a more serious memory problem.

For some older people, memory problems are a sign of mild cognitive impairment, Alzheimer’s disease, or a related dementia. People who are worried about memory problems should see a doctor. Signs that it might be time to talk to a doctor include:

  • Asking the same questions over and over again
  • Getting lost in places a person knows well
  • Not being able to follow directions
  • Becoming more confused about time, people, and places
  • Not taking care of oneself—eating poorly, not bathing, or being unsafe

People with memory complaints should make a follow-up appointment to check their memory after 6 months to a year. They can ask a family member, friend, or the doctor’s office to remind them if they’re worried they’ll forget.

Learn more about Alzheimer’s disease from MedlinePlus.

For More Information About Dealing with Memory Loss

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Warning Signs of Cardiac Arrest

Sudden cardiac arrest is frightening. But it’s a little less scary if you know that it’s really not that sudden. A new study found that about half of cardiac arrest patients had telltale warning signs for a month beforehand. But most people ignored them. Here are four signs that could signal sudden cardiac arrest and why you shouldn’t ignore them.

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Cognitive Health and Older Adults

Cognitive health—the ability to clearly think, learn, and remember—is an important component of brain health. Others include:Indian and Asian women laughing

  • Motor function—how well you make and control movements
  • Emotional function—how well you interpret and respond to emotions
  • Sensory function—how well you feel and respond to sensations of touch, including pressure, pain, and temperature

This guide focuses on cognitive health and what you can do to help maintain it. The following steps can help you function every day and stay independent—and they have been linked to cognitive health, too.

Take Care of Your Health

Taking care of your physical health may help your cognitive health. You can:

Eat Healthy Foods

A healthy diet can help reduce the risk of many chronic diseases, such as heart disease or diabetes. It may also help keep your brain healthy.

In general, a healthy diet consists of fruits and vegetables; whole grains; lean meats, fish, and poultry; and low-fat or non-fat dairy products. You should also limit solid fats, sugar, and salt. Be sure to control portion sizes and drink enough water and other fluids.

Researchers are looking at whether a healthy diet can help preserve cognitive function or reduce the risk of Alzheimer’s. For example, there is some evidence that people who eat a “Mediterranean diet” have a lower risk of developing mild cognitive impairment.

Researchers have developed and are testing another diet, called MIND, a combination of the Mediterranean and DASH (Dietary Approaches to Stop Hypertension) diets. One study suggests that MIND may affect the risk of Alzheimer’s disease.

Get more information about healthy eating for older adults.

Be Physically Active

Being physically active—through regular exercise, household chores, or other activities—has many benefits. It can help you:

  • Keep and improve your strength
  • Have more energy
  • Improve your balance
  • Prevent or delay heart disease, diabetes, and other diseases
  • Perk up your mood and reduce depression

Studies link ongoing physical activity with benefits for the brain, too. In one study, exercise stimulated the human brain’s ability to maintain old network connections and make new ones that are vital to cognitive health. Other studies have shown that exercise increased the size of a brain structure important to memory and learning, improving spatial memory.

Aerobic exercise, such as brisk walking, is thought to be more beneficial to cognitive health than non-aerobic stretching and toning exercise. Studies are ongoing.

Federal guidelines recommend that all adults get at least 150 minutes of physical activity each week. Aim to move about 30 minutes on most days. Walking is a good start. You can also join programs that teach you to move safely and prevent falls, which can lead to brain and other injuries. Check with your healthcare provider if you haven’t been active and want to start a vigorous exercise program.

For more information, see Go4Life®, NIA’s exercise and physical activity campaign for older adults.

Keep Your Mind Active

Being intellectually engaged may benefit the brain. People who engage in meaningful activities, like volunteering or hobbies, say they feel happier and healthier. Learning new skills may improve your thinking ability, too. For example, one study found that older adults who learned quilting or digital photography had more memory improvement than those who only socialized or did less cognitively demanding activities.

Lots of activities can keep your mind active. For example, read books and magazines. Play games. Take or teach a class. Learn a new skill or hobby. Work or volunteer. These types of mentally stimulating activities have not been proven to prevent serious cognitive impairment or Alzheimer’s disease, but they can be fun!

Scientists think that such activities may protect the brain by establishing “cognitive reserve.” They may help the brain become more adaptable in some mental functions, so it can compensate for age–related brain changes and health conditions that affect the brain.

Formal cognitive training also seems to have benefits. In the Advanced Cognitive Training for Independent and Vital Elderly (ACTIVE) trial, healthy adults 65 and older participated in 10 sessions of memory training, reasoning training, or processing–speed training. The sessions improved participants’ mental skills in the area in which they were trained. Most of these improvements persisted 10 years after the training was completed.

Be wary of claims that playing certain computer and online games can improve your memory and other types of thinking. Evidence to back up such claims is evolving. NIA and others are supporting research to determine if different types of cognitive training have lasting effects.

For more information, see Participating in Activities You Enjoy.

Stay Connected

Connecting with other people through social activities and community programs can keep your brain active and help you feel less isolated and more engaged with the world around you. Participating in social activities may lower the risk for some health problems and improve well-being.

So, visit with family and friends. Join programs through your Area Agency on Aging, senior center, or other community organizations.

We don’t know for sure yet if any of these actions can prevent or delay Alzheimer’s disease and age–related cognitive decline. But some of them have been associated with reduced risk of cognitive impairment and dementia.

See more resources about cognitive health.

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Improving Outcomes for Patients with NF1- Medical News

When 9-year-old Philip Moss ran out of treatment options for his neurofibroma tumors in April 2015, his doctors directed his family to NCI. NCI was leading the only treatment trial in the nation for children with tumors caused by neurofibromatosis type 1 (NF1), a genetic disorder in which painful and often disfiguring tumors of the nerves can grow on or under the skin. These tumors are generally benign, but about 10% of people with NF1 will develop a cancerous neurofibroma. There are currently no Food and Drug Administration-approved therapies for NF1.

Philip’s experience with NF1 began when he was 6 years old, with the detection, diagnosis, and removal of a tumor on his neck. “We’d never heard of NF1 before; our world changed,” said Renie Moss, Philip’s mother. Unfortunately, the tumor regrew over the next few years. After additional surgery, routine imaging scans revealed that the tumor was growing again, and, over a 6-month period, it grew from the size of a ping pong ball to the size of a tennis ball. In addition, other tumors had developed. The tumor on his neck was particularly concerning because it could obstruct his airway or cause other complications. “We felt like we were one step away from disaster,” recalled Renie.

Philip’s doctor referred them to a phase I clinical trial at the NIH Clinical Center in Bethesda, Maryland, that was testing an experimental targeted therapy called selumetinib. The trial was led by Brigitte Widemann, M.D., chief of NCI’s Pediatric Oncology Branch, and involved collaborators from Children’s Hospital of Philadelphia, Cincinnati Children’s Hospital Medical Center, and the Children’s National Health System.

Laboratory researchers had previously shown that mutations in the NF1 gene cause neurofibromas to grow through a chemical pathway inside cells called the RAS pathway. Selumetinib blocks a specific node in this pathway called MEK. In mouse models of NF1, MEK inhibitors reduced the growth of neurofibroma tumors. Other MEK inhibitors are safe and effective in other types of adult cancers. Based on these findings, researchers hypothesized that selumetinib might work in NF1 tumors in children.

In September 2015, Philip visited NCI for an intense medical evaluation, joined the trial, and began taking selumetinib twice a day. Because the drug is provided in pill form, Philip was able to return home for ongoing treatment and was monitored by his local pediatrician. He and his family learned to cope with the initial side effects of treatment, which included fatigue, headaches, and nausea. One year after joining the trial, Philip’s tumors were 36% smaller.

Although this trial was a small early-phase study, Philip was among the 71% of children whose tumor volumes decreased by more than 20%. “We saw tumor shrinkage in nearly every patient,” Brigitte remarked. “The shrinkage was measurable…something we had never seen before” among NF1 patients. These promising results are now being pursued in a phase II study.

Philip remains in the trial, and the tumor on his neck has shrunk by half. “Kids don’t ask what’s wrong with him anymore,” said Renie. “It’s meant the world to him and to our family.” Renie acknowledged the years of research that led to this trial. “Someone was planting the seeds in NF1 research so we would benefit from that work now.”

This content is provided by the National Cancer Institute (www.cancer.gov)
Syndicated Content Details:
Source URL: https://www.cancer.gov/publishedcontent/syndication/1124707.htm
Source Agency: National Cancer Institute (NCI)
Captured Date: 2018-09-24 12:10:14.0
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