The Oncotype DX test is an important diagnostic tool to help women with breast cancer determine how likely she will benefit from adding chemotherapy to her treatment. The test also measures how likely her cancer will return in the future.

Well, new research found that Oncotype DX Test may also help predict the return of colon cancer, and affect the treatment course of a patient. A patient with low “odds of recurrence” may not need chemotherapy, and can stick to surgery alone.

Oncotype DX Test for colon cancer is similar to the ones that is used in breast cancer, but the colon-cancer test is not as strong in predicting recurrence than breast cancer, but the test is useful nonetheless.

Genome Health, the makers of Oncotype DX test, will likely commercialize the genetic test for colon cancer sometime in 2010.

Often, finding the gene(s) that cause a disease is like the proverbial needle in a haystack. And in very rare cases, it’s Pleuropulmonary blastoma (PPB) is a rare childhood lung cancer where cysts and/or solid tumors grow in the lungs of children anytime from birth to about 7-8 years of age.

Malignant cancer cells. Image: Newscom

Only about 50% of patients with PPB are successfully cured of the cancer, and the prognosis becomes better with early diagnosis. One fourth of children with PPB have other types of cancers in their bodies (personal history) or in other family members, so there is a clear genetic factor involved.

A recent study found very interesting results that could help scientists understand how cancers develop. Results from a molecular study found that that a master controller gene called DICER1 was responsible for PPB. A mutation in the DICER1 gene will cause the expression of other genes to go out of control. And somehow, DICER1 deregulates those signals to nearby cells and turns those cells malignant. However, the cells with the mutated gene do not turn malignant. It’s really very interesting because it explains how other types of cancers are also found in children with PPB.

The International PPB Registry has links to the study abstract presented at the 100th Annual American Association of Cancer Research.

via PRNewswire

When I tell people I used to research about the genetics of myopia (or nearsightedness),  one of the questions they ask is whether they’ll pass it to their children.

And I tell them there are other factors, “interactions” we call them, between our genes and our environment that determine if certain genes will express and/or be passed to our children.

Genes and Environment play roles in diseases. Image: Newscom

For example, mutations in the brca1 gene are highly associated with very high risks of breast cancer. A brca1 (breast cancer 1; on chromosome 7) is one of the genes in the body that suppresses tumors, by repairing damaged DNA. A mutation or defect in the gene produces a protein that can not repair DNA in other genes. A person with brca1 mutations has up to 80% risk of having breast cancer in one’s lifetime.

However, not everyone who has breast cancer has the brca1 mutation. So, there must be other causes or factors that brought about cancer, which may have nothing to do with brca1. Some of the environmental risk factors for developing breast cancer include recent use of birth control pills;  earlier start to the menstrual period; postmenstrual hormone therapy, alcohol and many others (see list here).

Disorders that may be affected by genes and environment (risk factors) include other cancers, autism and other behavioral conditions, eye diseases like myopia, asthma and allergies, heart diseases, obesity… the list goes on.  Genetics parlance refers to these as “complex disorders“.

In contrast, there are medical conditions that are 100% genetic, referred to as “Mendelian disoders“.  Having a defective gene means the person is affected by the disease, and passes the gene to his/her children. These disorders can be diagnosed before birth, usually through a genetic screening test at pregnancy. Examples include downs syndrome, cystic fibrosis, thalassemia, phenylketonuria,  sickle cell anemia, hemophilia A, Tay Sachs’ disease.

What I’d like to do this month is look at some of the complex disorders and the environment and genetic risk factors involved. We’ll start with myopia or nearsightedness, but let me know if there is a disease you’d like me to focus on as well.

Red hair is among the rarest of hair colors, with only 1% of the population having that natural hair.

I personally think red hair makes heads turn. Check out these natural red-heads: Julianne Moore, Lindsay Lohan, Sarah Ferguson, Marcia Cross and of course, Prince Harry (and great grannie Queen Elizabeth I).

Auburn, ginger, bright orange, carrot-top:  they are all the same red hair, and most would be sharing the same gene.

Some variants of the melanocortin 1 receptor (MC1R) gene are strongly associated with red hair. The gene codes for a receptor that is expressed on pigment cells in the skin (melanocytes). This receptor responds to a hormone that stimutats the production of the dark pigment eumelanin. So, if you have a variant of the MC1R gene that turns off the receptor, the pigment eumelanin will not be made and you will have red hair and fair skin.

What do you get if you have red hair? Aside from stunning looks -

1. fair skin
2. poor ability to tan (major risk for skin cancer !! )
3. more freckles
4. probably Celtic (Irish/ Scottish) ancestors
5. (updated) sensitivity to pain

So now, a company called MyRedHairGene.com (Alpha Biolaboratory, Inc) has a genetic test that will show you if you carry that red hair gene, or if you will pass that gene on to your kids. One test for the red hair gene costs $119; two samples cost $214.

Read Dr. Lei’s interview to find out the science behind the test - Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R

Image:Newscom

A gene responsible for spreading breast cancer and making tumors resistant to chemotherapy has been identified by scientists from Princeton University.

The “metastasis gene” called Metadherin, or MTDH is turned on in 40% of breast cancer tumors. It is also found in 20% of prostate cancer patients studied. The gene helps spread cancer by making the tumor cells stick to blood vessels that bring them to distant areas of the body. MTDH also makes the tumors more resistant to chemotherapy drugs.

Discovering this gene helps scientist “hit two birds in one stone”, says senior author Dr. Yibin Kang to Newsday. “If you come up with a therapy that inhibits the gene, it could make the tumor more susceptible to chemotherapy and at the same time reduce the chance for a tumor to spread.”

The study appears in the January 6 2009 issue of Cancer Cell.

image credit: Newscom

Inspired by Diabetes Notes’ "Putting a Face on Diabetes", I wanted to do the same and show how people with genetic disorders - rare or common - manage their condition and live their lives to the full.

I found a feature article about a teenager named Lizzie Tinney, living with Xeroderma Pigmentosa or XP. Lizzie is only 13 years old and yet she already had to undergo surgeries to remove skin cancer sores. Even while wearing protective clothing from head to tow, Lizzie still has to carry around a meter to measure how much UV light she receives.

"It’s way hard. Its way still hard because I love the sun," says Lizzie. "But now that I know that I have XP, I can just go out with my hood on and I go out and play."

Xeroderma Pigmentosa is a rare genetic disorder in which the skin is unable to repair the damage caused by ultraviolet radiation, such as such exposure. The skin becomes so sensitive to UV rays that it gets thin and pigmented. The DNA damage accumulates with age and is so irreversible that risk for skin cancer is 2000-fold.

To find out more about Xeroderma Pigmentosa, visit the Xeroderma Pigmentosum Society website.

For the first time, US researchers have decoded all the genes of a woman who died of myeloid leukemia, and they found 10 mutations that contributed to the development of her cancer.

This finding is significant on several fronts. It’s the first time that a cancer genome has been sequenced. The scientists took samples of both cancer and normal skin cells from the same woman, and sequenced the DNA on both samples. Previous to this, the focus was on select regions of the genome, called candidate regions, suspected of carrying genes that cause or contribute to cancer.

The study also found that 8 of the 10 mutations have never been suspected as contributing to the disease. The researchers found them on every cancer cell and none in the normal samples, which suggests that these mutations play as-yet unknown roles in skin cancer.

The research is focused on skin cancer, but scientists are enthusiastic about finding similar or the same genes in other types of cancers.

At her request, the woman’s identity is kept secret, but this is also the first time that a woman’s genome has been sequenced. Previous to her, only James Watson and Craig Venter’s DNA have been decoded. 

Being diagnosed with a genetic disease, and one that has no cure or treatment, is probably one of most heart-wrenching news ever. To be told that one has Alzheimer’s disease for example, or one is a very high risk or diagnosis of some incurable form of cancer, what does one do? How does one handle it?

I read about Christina Applegate’s diagnosis of breast cancer, and her decision to have double mastectomy because of the high risk she carries. She kept it hidden from everyone but the closest family members and her make-up artist. I read of it weeks after her second surgery, and I have to admire her for what she did. She claims to be 100% cancer free after the surgery, and that is cause for a public applaud.

Well, new findings at the National Institutes of Health reveal that those who discuss their condition with friends and family, and caregivers who feel some measure of control, adapt best. Of course, it is a different ballgame with celebs and high profile names because they want more privacy. But for us who might be going through a diagnosis or know of our risk for certain diseases, genetic counselors will play a huge part in helping you and your families cope and understand the condition. I personally think that the first question a sincere family member asks is  - what can I do to help? 

Good news for the state of Illinois!

Women who are at high risk for developing breast and/or ovarian cancer will receive insurance coverage under Medicaid. Genetic tests for BRCA1 and BRCA2, and counseling will be available for low-income women with a strong family history of breast cancer or previous cancer diagnosis, writes the Chigaco Tribune.

Women with mutated BRCA1 or BRCA2 gene are 3 to 7 times more likely to develop breast cancer, and have a 16 to 60 percent lifetime risk for getting ovarian cancer than women without the mutations. Last year, about 22,000 low-income women enrolled in Medicaid were treated for breast cancer.

Let’s hope other states follow suit, so more women with very little resources can have themselves tested. What’s not clear from the article, and from the press release, if treatment is covered by Medicaid.

image used with permission by Newscom

It’s already been done with cervical cancer, so why not develop a vaccine for breast cancer? That’s the challenge that Professor Valerie Beral of Oxford University asks the scientific community.

The lead scientist in the Million Women’s Study says that the causes of breast cancer have been so well studied that a vaccine or a prophylactic drug is should be a real possibility. Speaking to the UK Guardian, Beral suggested that genes played a part in only a small number of breast cancer. Instead, it’s the processes of birth and breastfeeding that protect a woman from breast cancer more than anything else.

It’s interesting that the short-term exposure during late pregnancy and prolonged breastfeeding were postulated to have protective effects against breast cancer development. Unfortunately, less than a dozen scientists are looking into this possibility. Adds Beral -

"It is not well-funded. It is not mainstream research. Why isn’t it a priority of the cancer community?"

Why indeed?

SHOUT OUT: October is Breast Cancer Awareness Month, and Karen at Pink Ribbon Review is all about being an advocate for the disease.

© Vladislav Gansovsky - Fotolia.com