The organs and tissues of the body are made up of tiny building blocks called cells.

Cancer is a disease of these cells. Cells in each part of the body are different but most mend and reproduce themselves in the same way. Normally, cells divide in an orderly way. But if the process gets out of control, the cells carry on dividing and develop into a lump called a tumour. Not all tumours are cancer. Doctors can tell if a tumour is cancer by removing a small sample of tissue or cells from it. This is called a biopsy. The doctors examine the sample under a microscope to look for cancer cells. In a benign (non-cancerous) tumour, the cells may grow but cannot spread anywhere else in the body. It usually only causes problems if it puts pressure on nearby organs. In a malignant (cancerous) tumour, the cells grow into nearby tissue. Sometimes, cancer cells spread from where the cancer first started (the primary site) to other parts of the body. They can travel through the blood or lymphatic system.

Breast cancer occurs when cells within the breast ducts and lobes become cancerous

• Causes and risk factors
  We don’t know what causes breast cancer. There are some risk factors that can increase your chances of getting it.
  • Age – The risk of developing breast cancer increases with age.
  • If you have had cancer or other breast conditions before
  • Hormonal factors – Exposure to the hormones oestrogen and progesterone for long periods can affect your breast cancer risk.
  • Lifestyle factors – These include drinking more than two units of alcohol a day over many years, being overweight and smoking heavily.
  • Family history – Only 5–10% of breast cancers are thought to be caused by an inherited breast cancer gene. Talk to your doctor if you are worried about your family history.
  • Breast cancer is not infectious and cannot be passed on to other people.
• SymptomsThese can include:
  • a lump in the breast
  • a change in size or shape of the breast
  • dimpling of the skin or thickening of breast tissue
  • a nipple that is turned in (inverted)
  • a rash on the nipple
  • discharge from the nipple
  • swelling or a lump in the armpit.

   

  If you have any of these symptoms, get them checked by your GP. All of them can be caused by illnesses other than cancer.

• TestsYou should see your GP if you are worried about breast cancer. 

  At the clinic:

  The doctor will ask if you have had any breast problems before and about your family history of cancer.

  The doctor will examine your breasts and under your arms. They will explain which tests you need.

   

  A mammogram is a low-dose x-ray of the breast.

  You’ll be asked to take off your top and bra and may have to wear a gown before the mammogram. The radiographer (who takes the x-ray) will position you so your breast is against the x-ray machine. Your breast is then flattened and pressed with a flat,

  plastic plate. This keeps the breast still to get a clear picture. It can be uncomfortable and a little painful, but does not last long. You have two mammograms of each breast.

  Mammograms are usually only done on women over 40.

   

  A breast ultrasound uses sound waves to build up a picture of the breast.

  You’ll be asked to take off your top and bra, and lie down on a couch with your arm above your head. The person doing the scan puts a gel onto your breast and moves a small hand-held device around it. A picture of the inside of the breast shows up on a screen. It only takes a few minutes and doesn’t hurt.

  An ultrasound is more useful than a mammogram in women under 40.

   

  Fine needle aspiration (FNA) is a simple test done in the x-ray department or the breast clinic. The doctor uses x-ray or ultrasound guidance to make sure the cells are taken from the right area. Using a fine needle, your doctor takes some cells from the

  lump into a syringe. The sample is sent to the laboratory to check for cancer cells. It can be uncomfortable when the needle goes in, but it’s usually over quickly. Yourresults may be ready on the same day. You may feel sore for a few days afterwards – taking some mild painkillers should help.

   

  Ultrasound and FNA of the lymph nodes You’ll also have an ultrasound of the lymph nodes in the armpit. If any of the nodes feel swollen or look abnormal on the ultrasound, the doctor will do an FNA on them.

   

  Biopsy This is when a small piece of tissue is removed from the lump or abnormal area and looked at under a microscope. There are different types of biopsy. Your surgeon or breast care nurse can explain which type you will have. After a biopsy your breast can be bruised and feel sore for a few days. You can take

  painkillers until it eases.

  If breast cancer is confirmed then you may have some other tests to prepare for an operation or to find out more about the cancer. These tests include:

  • Blood tests
  • Chest x-ray
  • MRI scan
  • CT scan

  Your doctor or nurse will explain which tests you are having and what they involve.

  • Treatment

  Deciding on the best treatment isn’t always easy. Your doctor will need to think about a lot of things. The most important of these are:

  • your general health
  • the stage and grade of the cancer
  • the likely benefits of treatment
  • the likely side effects of treatment
  • your views about the possible side effects.

  It’s important to talk about any treatment with your doctor, so that you understand what it means. It’s a good idea to take someone with you.

   

  The main treatment for breast cancer is surgery. Other treatments are also often given to reduce the risk of the cancer coming back. These can include radiotherapy, hormonal therapy, chemotherapy and biological therapy.

   

  You will be asked to sign a consent form to show that you understand and agree to the treatment. You will not have any treatment unless you have agreed to it.

• SurgerySurgery is often used to remove the cancer and an area of healthy cells all aroundthe cancer. Sometimes the whole breast may need to be removed (mastectomy) and

  sometimes just the cancer may be removed (lumpectomy or wide local excision).

   

  If you have a lumpectomy, you will usually be advised to have radiotherapy to the

  remaining breast tissue afterwards. You may also need to have radiotherapy after a

  mastectomy.

   

  Research has shown that in early breast cancer a lumpectomy followed by radiotherapy

  is as effective at curing cancer as a mastectomy. You may be asked to choose the

  treatment which suits you best. The different treatments have different benefits and side

  effects, so this can be a difficult decision to make. You can talk about both options with

  your doctor or nurse, or cancer support specialists.

   

  It’s often possible for women who have a mastectomy to have their breast reconstructed.

  It can be done at the same time as the mastectomy. It can also be done months or

  years after the operation. There are different methods of breast reconstruction and your

  surgeon can discuss the options that may be suitable for you.

   

  After a mastectomy, the doctor will give you an artificial breast, which you can put

  inside your bra. You can wear it straight away after the operation when the area

  feels tender. When your wound has healed, you will be fitted with a permanent

  prosthesis (false breast).

   

  Adopted from: Macmillan fact sheet 2014: Breast cancer

Symptoms

Don’t wait for symptoms to appear. Get screened according to guidelines. If you do notice any of the

following symptoms, talk with your health care professional.

• A lump, hard knot or thickening in the breast
• A lump under your arm
• A change in the size or shape of a breast
• Nipple pain, tenderness or discharge, including bleeding
• Itchiness, scales, soreness or rash on nipple
• A nipple turning inward or inverted
• A change in skin color and texture (dimpling, puckering or redness)
• A breast that feels warm or swollen

At Risk:

• Women with abnormal genes, such as BRCA-1 or BRCA-2
• Women who began their menstrual periods before age 12 or began menopause after age 55
• Women who have used hormone replacement therapy (HRT) with estrogen and progesterone

for a long time

• Women who are overweight or obese
• Women who are not physically active
• Women over 40 (Most breast cancer is diagnosed in women over 40.)
• Women with a family history of ovarian cancer
• Women who have had radiation therapy to their chests
• Women and men with a family history of breast cancer (Risk increases if several close

relatives have been diagnosed with breast cancer or if a person’s older female relative, either

on the mother’s or father’s side, was diagnosed before age 50.)

• Women and men who have already had cancer in one breast

Risk Reduction and Early Detection for Women

• If you have babies, breast feed them.
• If you drink alcohol, limit your drinking to no more than one drink a day.
• Exercise daily for 30 to 60 minutes.
• Maintain a healthy weight.
• Don’t smoke. If you do smoke, quit.
• In your 20s and 30s, have a clinical breast exam (CBE) by a health care professional every year.
• Beginning at age 40, have an bi-annual CBE.
• At age 40, begin annual screening mammography.
• If you have an abnormal gene, talk with your health care professional about beginning annual screening mammograms at a younger age and MRI (magnetic resonance imaging).
• If you have a family history of breast cancer, talk with your health care professional about genetic testing.
• At menopause, talk with your health care professional about whether you should have hormone replacement therapy.
• Breast self-exam is one way that you can get to know what is normal for your breasts. If you notice changes, see your health care professional right away.

Treatment

Treatment depends on the type and stage of the breast cancer.

• The most common treatment is surgery to remove the cancer itself (lumpectomy) combined with radiation. In some cases, removal of the breast (mastectomy) is needed.
• Chemotherapy, radiation or hormone therapy may be used alone or in combination before or after surgery.

Genes are the set of instructions that help build, regulate and maintain your body functions. For example, building bones, enabling muscles to move, controlling digestion, and keeping your heart beating.

Imagine a recipe book; if chromosomes are the recipe book, genes are the single recipes in that book.

If we re-write and make many copies of that recipe book, there would certainly be a chance for error during replication. Gene mutations are those errors or “spelling mistakes” in the DNA that could either be inherited from a parent and are thus present from birth and in each cell of the body, or spontaneous: those which occur at some time during one’s life and are present only in certain cells, such as the lung or stomach. These spontaneous changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA replicates when the cells reproduce.

Such mutations are the cause for cancer (growth of abnormal cells that could lead to tumor formation).

Cancer occurs because of mutations, (the spelling mistakes in DNA) in the genes responsible for regulating the growth of cells and keeping them healthy. Sometimes faulty, cancer-causing genes can exist from birth, increasing a person’s chance of getting cancer at a young age.

The cells in our bodies replace themselves through an orderly process of cell growth and division: healthy new cells take over as old ones die out. However, over time, mutations can “turn on” certain genes that control cell division, and “turn off” others that regulate cell growth.

That changed cell gains the ability to keep dividing without control or order, producing more cells just like it and forming a tumor – cancer!

Although some types of cancer run in families, but most cancers are not clearly linked to the genes we inherit from our parents.

Gene changes that start in a single cell over the course of a person’s life cause most cancers. These are called sporadic or acquired mutations. This type of mutation is not present at birth, but is acquired later in life. It starts in one cell, and then is passed on to new cells that are the products of that cell. This kind of mutation is not present in the sperm or the egg, and thus cannot be passed down to the next generation. Acquired mutations are much more common than inherited mutations. Most cancers are caused by acquired mutations.

Cancer is such a common disease that it is no surprise that many families have at least a few members who have had cancer. Sometimes, certain types of cancer seem to run in some families. But only a small portion of all cancers are inherited.

Experts agree that it takes more than one mutation in a cell for cancer to occur. When someone has inherited an abnormal copy of a gene, though, their cells already start out with one mutation. This makes it all the easier (and quicker) for enough mutations to build up for a cell to become cancer. That is why cancers that are inherited tend to occur earlier in life than cancers of the same type that are not inherited. For e.g. breast cancer or colon cancer.

Clearly some types of cancer are more common than others; and up until recently, the two causative factors that were linked to cancer were hereditary and environmental, e.g. UV exposure, cigarette smoking, obesity, etc.

This makes perfect sense for conditions such as lung cancer, where the link to cigarette smoking is so strong and obvious. Whereas conditions such as breast cancer have clearer associations with inherited genetic mutations in the BRCA 1 and 2 genes. However, there are still many cancers for which the links to either environment or inherited genetic mutations is unclear.

A new school of thought raises an intriguing possibility about another source of genetically determined cancer risk. In a recent article published in the Science Journal, the authors examined the distribution of stem cells within certain organs of the body and measured the number of divisions of these stem cells and plotted it against the lifetime risk of developing cancer in each of these organs. There was extremely interesting finding that those organs in the body where stem cells divide many many times are much more likely to develop cancer than those where the number of stem cell divisions is much less. The authors suggested that stem cell DNA spelling mistakes were a possible cause of cancer in these organs because of the high number of copies of the DNA that had to be made.

This theory thus raises the question; “Are most cancers therefor a result of sheer “bad luck” of a health dividing cell making a random mistake while replicating its DNA?”

Early detection through regular and timely screening, and management via preliminary treatment and therapy has always been the professed weapon to combat cancer. With the new hypothesis of cancer occurring due to the result of “bad luck” during cell division and replication, this weapon becomes even more significant.

If there is no controllable factor to evade the risk of cancer, the only way to lessen the effect of the disease is early detection and treatment.

Genetic counselors are certified healthcare professionals who can assess a person’s risk of developing an inherited cancer by studying their complete medical and family history. A genetic counselor will present the appropriate testing options to identify any familial mutation that may be present. Similarly, a counselor will discuss the various outcomes of testing and explore the impact that they could have on an individual and their family. Once the results are available, the counselor will interpret and explain them in detail and reassess the cancer risk based on the results. The patient will be presented with risk management options and specialist referrals if required.

References:

http://www.sciencemag.org/news/2017/03/debate-reignites-over-contributions-bad-luck-mutations-cancer

www.cancer.org

Cord Blood Stem Cell Banking

Most parents work towards securing their child’s future in terms of finances, education and housing… how about their health? With the latest advances in technology and science, we now have the option to secure a child’s future health by collecting blood from the umbilical cord at birth and storing the umbilical cord blood stem cells – Cord Blood Banking!

As a parent, protecting your growing family is top priority. You can take the first step by saving your newborn’s cord blood. Cord blood banking is an once-in-a-lifetime opportunity for you to collect and save stem cells from your baby’s umbilical cord blood for potential medical uses. Having this invaluable resource can be live-changing for your baby and other family members.

The Power of Cord Blood Stem Cells

Cord blood is a rich source of stem cells that are the basic building blocks of life. They are found in the body’s organs, tissues, blood, and immune system and have the ability to regenerate into additional stem cells or differentiate into specialized cells, such as nerve or blood cells. This remarkable ability makes them invaluable in medical treatments. When transplanted into a patient’s body, stem cells can repair or replace the patient’s damaged or diseased cells, improving the patient’s health and, in many cases, saving the patient’s life.

The Healing Power of Stem Cells

Today, the primary type of stem cells in umbilical cord blood – called hematopoietic stem cells – are being used in transplant medicine to treat over 80 life-threatening diseases, including a wide range of cancers, genetic diseases, immune system deficiencies, and blood disorders.

Cord blood is being researched today for use in regenerative medicine where stem cells may help induce healing or regenerate cells to repair tissues in conditions such as juvenile diabetes, hearing loss, cerebral palsy and traumatic brain injury.

Preserving Your Baby’s Stem Cells

Having your baby’s own genetically unique stem cells offers many advantages if stem cells are ever needed for treatment by you, your child, siblings, or other family members:

• • Your baby’s cord blood is immediately available for your family if needed for treatment, and early treatment can minimize disease progression.
• • If ever required for a transplant, using your own family’s cord blood instead of an unrelated donor’s can have significant advantages, including fewer complications and improved medical outcomes.

Newborn stem cells can be found in cord blood and the umbilical cord itself (cord tissue). These are non-controversial sources of valuable stem cells that are collected after the umbilical cord has been cut and would otherwise be discarded.

Promise of Stem Cells

Cord blood has been successfully used in transplant medicine for more than 20 years to treat many serious diseases. Today stem cell therapies continue to evolve, bringing new hope to patients and their families.

It is exciting to note that ongoing medical research by scientists around the world is bringing more and more medical conditions within the sphere of stem cell therapy. There are hundreds of ongoing clinical trials that are unveiling incredible possibilities for regenerative medicine that include the growth of new tissues and organs using stem cells. The future looks bright as armies of stem cells are presently at training camps to become our lifesavers against conditions such as diabetes, heart diseases, osteoarthritis, rheumatoid arthritis and spinal injuries.

“The first successful cord blood transplant was performed in 1988 on a 5-year old boy with Fanconi’s Anemia (a rare genetic and lethal type of anemia). He was given 0% chance for survival. The donor was his newborn sister. Today, he is alive and free from disease for more than 20 years after the transplant”

“A UAE national boy with Thalassemia Major was treated with his brother’s umbilical cord blood in 2014. According to the transplant physician, “There is a big chance that the patient will be completely cured and free of blood transfusions, thanks to his sibling’s umbilical cord blood”.

A new study finds that surgeons are a key influence

Read More

There are two primary types of Thalassemia disease: Alpha Thalassemia disease and Beta Thalassemia disease. Beta Thalassemia Major is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.

Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin

Thalassemia major and intermedia is inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sometimes, however, people with only one HBBgene mutation in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor.

https://geneticsupportfoundation.org/archive/genetics-and-you/autosomal-recessive-inheritance