Understanding Role of  BRCA I & BCRA II mutations

 

About 12 percent of women in the general population will develop breast cancer sometime during their lives. By contrast, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years.

About 1.3 percent of women in the general population will develop ovarian cancer, but 39 percent of women who inherit a harmful BRCA1 mutation and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years.

 

In addition to ovarian and breast cancer, harmful mutations in BRCA1 and BRCA2 increase the risk of several cancers. BRCA1 mutations may increase a woman’s risk of developing fallopian tube cancer and peritoneal cancer. Men with BRCA2 mutations, and to a lesser extent BRCA1 mutations, are also at increased risk of breast cancer and have a higher risk of prostate cancer. Men and women with BRCA1 or BRCA2 mutations may also be at increased risk of pancreatic cancers .If mutations are inherited from both parents, childhood solid tumors and development of acute myeloid leukemia may occur.

 

A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when an individual will actually develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.

 

A positive genetic test result may also have important health and social implications for family members, including future generations. Unlike most other medical tests, genetic test scan reveal information not only about the person being tested but also about that person’s relatives. Both men and women, who inherit a harmful BRCA1 or BRCA2 mutation, whether or not they develop cancer themselves, may pass the mutation on to their sons and daughters. Each child has a 50 percent chance of inheriting a parent’s mutation. If a person learns that he or she has inherited a harmful BRCA1 or BRCA2 mutation, this will mean that each of his or her full siblings has a 50 percent chance of having inherited the mutation as well.

 

Several options are available for managing cancer risk in individuals who have a known harmful BRCA1 or BRCA2 mutation. These include enhanced screening, prophylactic (risk-reducing) surgery, and chemoprevention

 

People with BRCA1 and BRCA2 mutations are recommended to start cancer screening at younger ages. Women with BRCA2 mutation undergo clinical breast examinations beginning at age 25 to 35 years and have a mammogram every year, beginning at age 25 to 35 years. Recent studies have shown that MRI may be more sensitive than mammography for women at high risk of breast cancer.

Some groups recommend transvaginal ultrasound, blood tests for the antigen CA-125, and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 mutations.

Prophylactic surgery involves removing as much of the “at-risk” tissue as possible. Women may choose to have both breasts removed (bilateral prophylactic mastectomy) to reduce their risk of breast cancer. Surgery to remove a woman’s ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) can help reduce her risk of ovarian cancer.

Prophylactic surgery does not guarantee non development of cancer. Women have developed breast cancer, ovarian cancer, or primary peritoneal carcinomatosis (a type of cancer similar to ovarian cancer) even after prophylactic surgery.

Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of, or delay the recurrence of, cancer. Two chemopreventive drugs (tamoxifen and raloxifene) have been approved.

 

Having said this BRCA I & BRCA II testing should only be done after genetic counseling .An assessment should be made only after properly assessing the family medical history and personal medical history.

 

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CHRONIC KIDNEY DISEASE SOME FACTS

 

Chronic kidney disease some facts

Chronic kidney disease is a slow progressive loss of kidney function over a period of several years. It is also known as Chronic Renal Failure, Chronic Renal Disease, or Chronic Kidney Failure; It is widespread and goes undetected and undiagnosed until the disease is well advanced. People realize they have chronic kidney failure only when their kidney function is down to 25 percent of normal. As kidney failure advances and the organ’s function is severely impaired, dangerous levels of waste and fluid can rapidly build up in the body.

 

Symptoms of Chronic kidney disease

Chronic kidney failure, as opposed to acute kidney failure, is a slow and gradually progressive disease. Even if one kidney stops functioning, the other can carry out normal functions.  It is important that people who are at high risk of developing kidney disease have their kidney function regularly checked. Early detection can significantly help prevent serious kidney damage.

The most common signs and symptoms of chronic kidney disease include:

  • Anemia
  • Blood in urine
  • Decreased mental alertness
  • Decreased urine output
  • Edema– swollen feet, hands, and ankles (face if edema is severe)
  • Fatigue (tiredness)
  • Hypertension(high blood pressure)
  • Insomnia
  • Itchy skin
  • Loss of appetite
  • Inability to get or maintain an erection (erectile dysfunction) in males.
  • More frequent urination, especially at night
  • Muscle cramps
  • Muscle twitches
  • Nausea
  • Pain on the side or mid to lower back
  • Panting
  • Protein in urine
  • Sudden change in bodyweight

Causes Chronic kidney disease

  • Kidneys carry out the complex system of filtration in our bodies – excess waste and fluid material are removed from the blood and excreted from the body..
  • In the majority of cases, progressive kidney damage is the result of a chronic disease such as:
  • Diabetes – chronic kidney disease is linked to diabetes types 1 and 2. If the patient’s diabetes is not well controlled, excess sugar (glucose) can accumulate in the blood. It more commonly occurs after 15-25 years after diagnosis of diabetes.
  • Hypertension (high blood pressure) – high blood pressure can damage the glomeruli.
  • Obstructed urine flow – If urine flow is blocked it can back up into the kidney from the bladder (vesicoureteral reflux). Blocked urine flow increases pressure on the kidneys and reduces their function. Some causes leading to backflow  include an enlarged prostate, kidney stones, or a tumor.
  • Kidney diseases – including polycystic kidney disease, pyelonephritis, or glomerulonephritis.
  • Kidney artery stenosis –If the renal artery narrows or is blocked before it enters the kidney, kidney can be damaged and over a period of time renal failure occurs.
  • Certain toxins – including fuels, solvents (such as carbon tetrachloride), and lead (and lead-based paint, pipes, and soldering materials) are nephrotoxic.
  • Fetal developmental problem – if the kidneys do not develop properly in the fetus while it is developing in the uterus.
  • Systemic lupus erythematosis – an autoimmune disease. The body’s own immune system attacks the kidneys as though they were foreign tissue.
  • Malaria and yellow fever – known to cause kidney damage.
  • Some medications – overuse of drugs for example, NSAIDs (non-steroidal anti-inflammatory drugs), such as or ibuprofen.
  • Illegal substance abuse – such as heroin or cocaine.
  • Injury – a sharp blow or physical trauma to the kidney(s).

Chronic kidney disease diagnosis

  • Blood test – a blood test may be ordered to determine whether waste substances are being adequately filtered out. A kidney function test include urea.creatinine, uric acid, sodium, potassium, protein and albmin levels.
  • Urine test – a routine urine test helps find out whether there is either blood or protein in the urine.
  • Kidney scans – kidney scans may include a magnetic resonance imaging (MRI) scan, computed tomography (CT) scan, or an ultrasound These scans can also reveal the size and shape of the kidneys – in advanced stages of kidney disease the kidneys become smaller and have an uneven shape.
  • Kidney biopsy – A small sample of kidney tissue is extracted and examined for cell damage. An analysis of kidney tissue makes it easier to make a precise diagnosis of kidney disease.
  • Chest X-ray – the aim here is to check for pulmonary edema(fluid retained in the lungs).
  • Glomerular filtration rate (GFR) – GFR is a test that measures the glomerular filtration rate – it compares the levels of waste products in the patient’s blood and urine. GFR measures how many milliliters of waste the kidneys can filter per minute. The kidneys of healthy individuals can typically filter over 90 ml per minute.

 

 

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FOOD ALLERGY & FOOD INTOLERANCE

There is a lot of discussion regarding ‘food allergy’ and ‘food intolerance’. Symptoms of food allergies can range from mild to severe. Patient may present with mild itching, sneezing, and skin rash to anaphylaxis, which is a life threatening condition,

While any food can cause adverse reactions, 90% are due to the below listed foods-

  • Eggs
  • Milk
  • Peanuts
  • Tree nuts
  • Fish
  • Shellfish
  • Wheat
  • Soy

These are numerous advances and molecular tests now available for detecting food allergies.

Another concept described is food intolerance, Food intolerance is non-allergic hypersensitivity to some foods. The onset of symptoms is slower and may be delayed by many hours after eating the offending foods. These symptoms may last for many hours and many continue for days. Lactose and yeast intolerance and some examples of food intolerance. Food intolerance testing can by done by IgG levels, while allergy testing be done by IgE levels. However, results for testing food intolerance are not validated and hence many doctors don’t recommend them.

The best way of diagnosing, intolerance still remains clinical judgement and correlation with   symptoms after eat taking specific foods.

 

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LUNG CANCER

RISK FACTORS AND SYMPTOMS FOR LUNG CANCER

 

  • Biggest risk factor for lung cancer is smoking, that includes cigarettes, cigars, and pipes. Cigarette smokers are 15 to 30 times more likely to get lung cancer than nonsmokers. Longer one smokes, the greater the risk. Quitting smoking can lower that risk. Breathing in secondhand smoke is also a major risk factor. From the moment you inhale smoke into your lungs, it starts damaging your lung tissue. Lungs can repair the damage, however continued exposure to smoke makes it increasingly difficult to replace the cells that are damaged; these cells begin to behave abnormally, increasing the likelihood of developing lung cancer.
  • Exposure to radon, a naturally occurring gas increases the risk of lung cancer. Radon rises from the ground, entering buildings through small cracks. It is the leading cause of lung cancer in nonsmokers.
  • Toxic substances such as asbestos or diesel exhaust in the workplace can also cause increased susceptibility to lung cancer
  • Family history of lung cancer
  • Personal history of lung cancer, especially if one is a smoker
  • Previous radiation therapy to the chest
  • Other substances that can cause lung cancer are:
  1. Arsenic
  2. Cadmium
  3. Chromium
  4. Nickel
  5. Some petroleum products
  6. Uranium

SYMPTOMS

Early symptoms may include:

  • Lingering or worsening cough
  • Coughing up phlegm or blood
  • Chest pain that worsens when you breathe deeply, laugh, or cough
  • Hoarseness of voice
  • Shortness of breath
  • Wheezing
  • Weakness and fatigue
  • Loss of appetite and weight loss
  • Recurrent respiratory infections such as pneumonia or bronchitis.

 

As cancer spreads, additional symptoms depend on the tumor metastasis. For example,

  • Lymph nodes: lumps, particularly in the neck or legs
  • bones: bone pain, particularly in the back, ribs, or hips
  • brain or spine: headache, dizziness, balance issues, or numbness in arms or legs
  • Liver: yellowing of skin and eyes (jaundice)
  • Tumors at the top of the lungs can affect facial nerves, leading to drooping of one eyelid, small pupil, or lack of perspiration on one side of the face. Together, these symptoms are called Horner syndrome. It can also cause shoulder pain.
  • Tumors can press on the large vein that transports blood between the head, arms, and heart. This can cause swelling of the face, neck, upper chest, and arms
  • Lung cancer sometimes creates a substance similar to hormones, causing a wide variety of symptoms called paraneoplastic syndrome, which include, muscle weakness, Nausea, Vomiting, Fluid retention, High blood pressure, High blood sugar, Confusion, Seizures and Coma.

 

To know prostate cancer . call on 26168587-88, 89 or 8130415737

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H-11, Green Park Extension,
New Delhi – 110 016

Tel : +91-11-26168587, +91-11-26168588

Mob: +91-8130415737

Telefax:+91-11-26168589

lifelinelab@lifelinelaboratory.com

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PROSTATE CANCER

 

protest-screeing

 

RISK FACTORS:

  • Age (>50 years);
  • Prostate cancer in a father, brother, or son;
  • A diet high in processed meat or dairy;
  • Men who are overweight or obese.

SYMPTOMS:

  • Blood in the urine or semen
  • Trouble when starting to pass urine
  • Weak flow of urine
  • Trouble completely emptying the bladder
  • Frequent need to pass urine, especially at night
  • Pain or burning when passing urine
  • Pain in the back, hips, or pelvis
  • Pain when ejaculating

SCREENING

  • PSA: Total PSA; Free PSA
  • DRE (digital rectal examination): Is a complimentary test considered with serum PSA in asymptomatic men who had a risk/benefit discussion and decided to pursue screening for prostate cancer
  • Ultrasound of prostate

AGE TO INITIATE TESTING

  • Informed testing beginning at age 45 years

FREQUENCY OF TESTING

  • 45-75 years: Repeat testing every 2 to 4 years if PSA is < 1ng/ml; every 1 to 2 years if PSA is 1-3ng/ml
  • Younger men with higher end of PSA is screened in 2 years
  • Older men with lower PSA is screened in 4 years

sharp-decline-in-prostate-cancer-screening 

 

 

 

 

 

 

 

 

 

To know prostate cancer . call on 26168587-88, 89 or 8130415737

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Lifeline Laboratory

H-11, Green Park Extension,
New Delhi – 110 016

Tel : +91-11-26168587, +91-11-26168588

Mob: +91-8130415737

Telefax:+91-11-26168589

lifelinelab@lifelinelaboratory.com

Timings: 8 am to 6:30  pm (Weekdays) and 9 am to 1 pm (Sundays)

 

 

Leprosy is not a Curse!

Leprosy is a chronic infections disease caused by bacteria Mycobacterium Leprae.

The disease effects the skin nervous membranes, eyes and peripheral nerves. The disease is classically classified into 2 types. ‘Tuberculoid leprosy’ and ‘Lepromatous Leprosy, however there are intermediate subtypes between the two.

Some facts about leprosy are:-

  • Leprosy or Hensen’s disease is easily curable with multidrug therapy.
  • Leprosy has been eradicated from almost 119 countries.
  • The disease can affect individuals of all sexes and all ages.
  • Leprosy is a curable disease with the initiation and completion of MDT.
  • Treatment with MDT can prevent the disfigurement and neurologic disability associated with leprosy.
  • Prognosis depends on the stage of the disease at the time of diagnosis, as well as on the initiation and compliance with MDT.
  • Skin discoloration and skin damage generally persist even after treatment with MDT.
  • Progression of neurologic impairment can be limited with MDT. In general, however, there is partial or no recovery from neurologic damage already suffered (muscle weakness and loss of sensation).
  • Relapse of leprosy after treatment with MDT is rare.
  • Leprosy is only rarely fatal.
  • Patients must be educated to be aware of the signs and symptoms of relapse and disease exacerbations (type 1 and type 2 reactions).
  • Injury prevention is important to avoid chronic disability.
  • Public awareness and education campaigns are necessary for the early identification and treatment of leprosy, in addition to eliminating the social stigma and isolation associated with the disease.
  • The WHO public-health initiative has been extremely successful in working toward the elimination of leprosy worldwide. Political and economic support need to continue in order to sustain elimination and progress toward further reducing the prevalence of leprosy globally.

 

To know about breast cancer diagnosis and other breast tumor markers diagnosis.  call on 26168587-88, 89 or 8130415737

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WHAT’S NEXT IN CERVICAL CANCER SCREENING & DIAGNOSIS

Mostly all cervical cancers are caused by human papilloma virus (HPV) infection. HPV is also known to cause other cancers like anal and oropharyngeal cancers.

Although approximately 75 % of women and 50 % of men are infected by HPV sometime during their lifetime, most HPV infections resolve on their own within 2 years. However persistant infection with ‘high risk’ HPV types may lead to high grade cervical disease and cancer. It is therefore very important to develop tests that can distinguish high risk HPV from self resolving HPV infections.

Current Screening Methods

  • The most common screening test is liquid based cytology (LBC) or PAP test. Where cervical cells are collected using a brush or swab and analysed microscopically. The PAP test however has laboratory variations as it is subjective and depends on the interpretation by cytologist.
  • DNA testing for HPV has become useful tool along with the regular pap testing.

A positive HPV test indicates the patient needs to be followed up with another test to see if this infection has self resolved or is likely to develop into cancer. Many countries now do HPV testing before PAP and only HPV positive patients go for a PAP smear.

What is New?

E6/E7 mRNA are precursors to E6/E7 oncoproteins which are functional molecules more directly relevant to disease progression. Over expressions of E6 and E7 oncoprotein is a critical step towards HPV related disease progression and cancer. Over expression of E6/E7 on RNA can now be detected.

Use of E6 and E7 mRNA helps to more accurately assess cervical cancer risk in HPV infected patients.

E6/E7 MRNA may also similarly be used for oral and anal cancer.

 

 

To know about breast cancer diagnosis and other breast tumor markers diagnosis.  call on 26168587-88, 89 or 8130415737

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Lifeline Laboratory

H-11, Green Park Extension,
New Delhi – 110 016

Tel : +91-11-26168587, +91-11-26168588

Mob: +91-8130415737

Telefax:+91-11-26168589

lifelinelab@lifelinelaboratory.com

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