Thursday, February 16, 2012

Important Cancer Findings For Women Concerning Breast Cancer

Hundreds of more breast cancer patients should be tested for the BRAC1 gene mutation test.  What exactly is the BRAC1?  It is is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA.  BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA, or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers.

A BRCA mutation is a mutation in either of the genes BRCA1 and BRCA2. Harmful mutations in these genes produce a hereditary breast-ovarian cancer syndrome in affected families. Mutations in BRCA1 and BRCA2 are uncommon, and breast cancer is relatively common, so these mutations consequently account for only five to ten percent of all breast cancer cases in women.



BRCA Testing Kit and Where the BRCA Gene is Located

The researchers – funded by Cancer Research UK and led by scientists at The Institute of Cancer Research – looked at more than 300 with TN and found BRCA1 mutations in nearly one in five women diagnosed under 50.
But due to the cost of testing for the BRCA1 mutation, NICE guidance recommends that BRCA1 should be offered if the likelihood of detecting a mutation is greater than 20 per cent, although many testing centres offer it if the likelihood is between 10-20 per cent.
Centres use a range of criteria and methods to determine if a patient is eligible for testing. But this requires specialist knowledge and software and potentially misses hundreds of women a year.
Based on their findings the researchers estimate more than one in three women with TN breast cancer caused by BRCA1 mutations would not have been tested using the current criteria.
Lead author Professor Nazneen Rahman, a Cancer Research UK funded researcher at the Institute of Cancer Research and the Royal Marsden Hospital, said: “Our findings show that women diagnosed with triple-negative breast cancer under 50 should be offered BRCA1 testing. Using a simple age criteria for testing will provide a clear and understandable guide for doctors and women to follow, and should result in many more women benefitting from the optimised care that genetic information makes possible.”
Changing the current testing guidelines could mean an extra 1,200 tests a year, which the researchers acknowledge will place an extra burden on current services.
Professor Rahman added: “There are hurdles to overcome so that NHS testing services can cope with more BRCA1 testing, but we’re moving towards an era of faster and cheaper genetic testing, so it will soon be possible.”
Women carrying the BRCA1 mutation have up to a 65 per cent chance of developing breast cancer by the time they are 70. But only around one in 900 women in the general population carry a BRCA1 mutation.
Breast cancers with BRCA1 mutations can respond well to treatment with platinum-based drugs, such as carboplatin and cisplatin, and also to radiotherapy. But they can develop resistance to the treatment and start to grow again.
Rowena Kincaid, 36, from Cardiff, was diagnosed with breast cancer in July 2009 after finding a lump. It was confirmed as triple negative and she underwent a lumpectomy followed by four months of chemotherapy and radiotherapy. She is now doing well, is back at work and took part in Race for Life in 2011.
She said: “I am interested to know about the genetic testing, as I know there has been cancer in the family. To be offered the chance to find out if I carry the BRCA1 mutation would not only give me insight to my own disease but also allow me and my family to discuss with our doctors if we carry the mutation what the next steps would be.” Professor Peter Johnson, chief clinician at Cancer Research UK, said: “It’s important that we identify women and their families who carry BRCA1 mutations. They’re more likely to develop breast and ovarian cancer, so armed with this knowledge doctors can offer targeted screening and tailored treatments to these women.
“The NHS needs to adapt so that tests for BRCA1 can be offered to women who are likely to carry the mutation. This approach will be cost-effective for the NHS in the long-term, leading to a substantial reduction in the number of breast and ovarian cancers by offering preventative treatments for those women and their families who are at greatest risk.”
More information: L. Robertson et al BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years British Journal of Cancer (2012). doi:10.1038/bjc.2012.31

Tuesday, February 14, 2012

Kaposi Sarcoma

Kaposi sarcoma is a tumor caused by Human herpesvirus 8.  It has been known widely as the Aids defining illness in the 1980's.  Persons with a severely weakened immune system are easily susceptible to this sarcoma.





                                                     Kaposi Sarcoma on skin


                                                        Kaposi Sarcoma of the mouth


The viral cause for this cancer was discovered in 1994.  There is widespread lack of awareness of this even among persons at risk for KSHV/HHV-8 infection. 
It was originally described by Moritz Kaposi (KA-po-she), a Hungarian dermatologist practicing at the University of Vienna 1872.
Since Moritz Kaposi first described this malignant neoplasm, the disease has been reported in five separate clinical settings, with different presentations, epidemiology, and prognoses

1. Classic Kaposi Sarcoma
2. African cutaneous Kaposi sarcoma
3. African lymphadenopathic Kaposi sarcoma
4. AIDS-associated Kaposi sarcoma
5. Immunosuppression-associated Kaposi sarcoma


KS lesions are nodules or blotches that may be red, purple, brown, or black, and are usually papular (i.e., palpable or raised).
They are typically found on the skin, but spread elsewhere is common, especially the mouth, gastrointestinal tract and respiratory tract. Growth can range from very slow to explosively fast, and is associated with significant mortality and morbidity.

Blood tests to detect antibodies against KSHV have been developed and can be used to determine whether a patient is at risk for transmitting infection to their sexual partner, or whether an organ is infected prior to transplantation. However, these tests are not available except as research tools, and, thus, there is little screening for persons at risk for becoming infected with KSHV, such as transplant patients.

If you have been diagnosed with KSHV by biopsy and the tissue is prepared by a histologist and read under the microscope by a pathologists.  CD4 and viral loads are performed on blood samples.

CD4 cells are a type of lymphocyte (white blood cell). They are an important part of the immune system. CD4 cells are sometimes called T-cells. There are two main types of CD4 cells. T-4 cells, also called CD4+, are "helper" cells. They lead the attack against infections. T-8 cells (CD8+) are "suppressor" cells that end the immune response. CD8 cells can also be "killer" cells that kill cancer cells and cells infected with a virus.
Researchers can tell these cells apart by specific proteins on the cell surface. A T-4 cell is a T-cell with CD4 molecules on its surface. This type of T-cell is also called "CD4 positive," or CD4.

The viral load test is a quantitative measurement of HIV nucleic acid (RNA) that provides important information that is used in conjunction with the CD4 cell count:
  • to monitor the status of HIV disease,
  • to guide recommendations for therapy, and
  • to predict the future course of HIV.
Evidence shows that keeping the viral load levels as low as possible for as long as possible decreases the complications of HIV disease, slows the progression from HIV infection to AIDS, and prolongs life.
There are several methods for testing viral load; results are not interchangeable so it is important that the same method be used each time.

you have Kaposi's sarcoma, your doctor will try to determine how far it has spread by examining you and asking you several questions:
  • Do you have a cough, or are you short of breath? (This could indicate that the cancer has reached the lungs.)
  • Do your legs swell up? (This suggests the cancer has reached lymph nodes.)
  • Do you experience nausea, vomiting, or abdominal pain? Do you have blood in your stool? (This suggests the cancer is affecting the gastrointestinal tract.)

Expected Duration

There is no cure for Kaposi's sarcoma. It is a lifelong condition. However, the symptoms will improve with treatment (such as HAART for people with HIV/AIDS.)

http://www.drugs.com/health-guide/kaposi-s-sarcoma.html or   http://www.wikipedia.org