One more year has passed, and it is October again, we start remembering that we should do something to fight breast cancer. People gather and will organize charity events, run for cancer and much more. This is all good, just, why are we only doing that in October? We should fight this disease all year long and remember that there are many things that can be done, not just in October.

In this post I want to remember that prevention, and early detection are crucial, and genetics play a big part of.

Below I am attaching a text that I wrote more than a year ago, when I still had my genetic company. I lost the company through an unfriendly takeover but that’s another story.

Today I am running my Medical Tourism business, with the objective to help people find best solutions for their medical condition, mainly cancer. I do my best to find the best clinics for you in “Integrated, scientifically proven cancer treatments”.  I have sent a lot of people to such clinics the past 9 months since opening my agency and patients, especially suffering from breast cancer, have done well and the results achieved have been very satisfying. I continue to meet clinics and I investigate latest developments in advanced cancer treatments, believing that we will be able to defeat cancer very soon, at least that cancer will be managed like a chronic disease.

I am a strong believer in combining conventional medicine with alternative solutions – those you can see on my website. But on the other side I also believe that we must stop chemo as soon as possible, as the side effects are bad and success rates are very low. You are unique and you disserve a unique treatment regimen. But also it makes me feel angry, when reading on internet about one miracle drug, one miracle herbal medicine, one miracle immune therapy, and so on – there is not such thing. This is unethical! One size fit all doesn’t exist. What the best clinics offer is a customized mixture of the currently available tools with the aim to offer best treatment success with minimal side effects.

Wishing you all a good month of October and stay healthy,

Best regards

Bruno

WHAT IS HEREDITARY CANCER?

About half of all men and one third of all women will develop cancer during their lifetimes. Most cancers occur by chance or are due to environmental factors, but some cancers are hereditary. Hereditary cancer occurs as a result of disease associated genetic variations—also called pathogenic variants—that we inherit in our DNA. It is often diagnosed at a young age and affects many people in a family.

The past few decades have seen incredible advances in genetic knowledge, and we have now identified many genes associated with an increased risk of developing cancer.

WHAT DO WE KNOW ABOUT THE GENETICS OF BREAST CANCER?

Approximately 10 percent of patients with breast cancer have a genetic variant that increases their risk of developing the disease. An additional 20 percent have a close family member who also had breast cancer, suggesting a familial link even though no specific genetic variant was found. And about 70 percent of breast cancer patients have what’s called “sporadic” cancer, meaning that the genetic changes that triggered the cancer do not seem connected to inherited genetic traits, or their cancer is the result of many different factors.

BRCA1 and BRCA2 are the most common genes known to increase the risk of breast and ovarian cancers. Variations in these genes can also increase the risk for other cancers, including fallopian tube cancer, primary peritoneal cancer, pancreatic cancer, melanoma, male breast cancer, and prostate cancer.

In addition to BRCA1 and BRCA2, many other genes can increase an individual’s risk of developing breast cancer, including TP53, PTEN, STK11, and CDH1. Like BRCA1 and BRCA2, many of these genes also influence risk for other types of cancers.

WHO SHOULD CONSIDER GENETIC TESTING?

Genetic testing may be appropriate if you have1:

  • breast cancer diagnosed before age 50
  • ovarian cancer at any age
  • male breast cancer at any age
  • bilateral breast cancer or two separate breast cancer diagnoses
  • triple-negative (ER/PR/HER2-neu negative)  breast cancer
  • both breast and ovarian cancer in close relatives
  • breast cancer in two or more close relatives on the same side of your family
  • a close blood relative with cancer in both breasts
  • a known familial genetic variant in a breast cancer susceptibility gene
  • Arab heritage with a family history of breast cancer
  • a clustering of cancers that may suggest an inherited cancer syndrome, such as breast cancer, thyroid cancer, pancreatic cancer, prostate cancer, bone or soft tissue cancer, sarcoma, adrenocortical carcinoma, or leukemia/lymphoma—all on the same side of your family

If any of these situations apply to you, share your family history information with your healthcare provider and ask if a referral to a genetic counselor or other specialist is appropriate.

WHY IS IT IMPORTANT TO KNOW ABOUT YOUR CANCER RISK?

If your family history suggests hereditary cancer, you may wish to consider asking your healthcare provider if clarifying your risk through genetic testing is right for you. Genetic testing can help you and your healthcare provider develop an appropriate medical management plan focused on cancer prevention or early detection. Genetic testing can also help clarify the cancer risks for other members of your family.

HOW CAN YOU LEARN MORE ABOUT YOUR HEREDITARY CANCER RISK?

One of the simplest and most effective means of learning about your cancer risk is to know your family medical history. Ask your relatives whether they or any other family members have been diagnosed with cancer. It is important to ask about the type of cancer, the age of diagnosis, and the age of death. Share your family history information with your healthcare provider, and ask if a referral to a genetic counselor is appropriate

WHAT CAN I DO WITH THIS INFORMATION?

Genetic testing produces information that may help you and your healthcare provider:

  • provide an explanation for your personal or family history of cancer
  • evaluate your risk of developing future cancers
  • make informed medical decisions, including treatment for an already-diagnosed cancer and/or surveillance and preventive options to help detect or prevent future cancers
  • identify other at-risk relatives for whom genetic testing is recommended

Identifying at-risk family members is one of the most important benefits of genetic testing. Screening family members for known genetic variants gives those who test positive the opportunity to make informed decisions on prevention strategies. For those who test negative, the results can bring peace of mind.

RESULTS OF GENETIC TESTING FOR HIGH-RISK BREAST CANCER

You may receive three possible results when you undergo genetic testing: positive, negative, or variant of uncertain significance.

POSITIVE RESULT

Genetic testing could identify a disease-associated pathogenic variant in one of the genes known to increase the risk of developing certain cancers. This is called a positive result. If you receive a positive result, please consult with your healthcare provider to create a screening and management plan that addresses this increased cancer risk.

In addition, genetic testing for an identified pathogenic variant is appropriate in other family members. It is important that you share your genetic test result with your relatives. Speak with your genetic counselor or healthcare provider to evaluate which family members could benefit.

NEGATIVE RESULT

Genetic testing could also identify no changes in the genes tested—a negative result. In this case, your future cancer risk depends on your personal medical history. Nevertheless, this is based on what we know today and so you are encouraged to consult with your healthcare provider to discuss recommendations for cancer surveillance.

VARIANT OF UNCERTAIN SIGNIFICANCE

Finally, in some cases, genetic testing identifies a variant on one of the genes tested, but it’s not known at this time whether the variant change is significant to the disease. This is called a variant of uncertain significance (VUS). When a variant is detected in a gene, measures are taken to determine its disease causing potential. This includes a careful review of the medical literature and databases, and the use of computer models that predict the clinical significance of the variant. Sometimes, even after all investigations, the lab is still not able to determine if a particular variant is likely to cause disease.

 

POSSIBLE CLINICAL RECOMMENDATIONS

Knowledge of your inherited risk for cancer can be a useful tool to guide prevention and risk-reduction. If you have an elevated risk of developing cancer based on your genetic test result, you can work with your healthcare provider to create a plan designed to prevent a cancer entirely, or help to identify a cancer at its earliest, most treatable stage.

Your genetic test results are influenced by your personal medical history and that of your family. For this reason, any cancer surveillance and prevention measures that your healthcare provider recommends will depend upon your personal medical history, family medical history, and specific genetic test results.

Our understanding of cancer genetics is evolving rapidly, with new information being discovered very quickly. Some breast cancer genes, including BRCA1, BRCA2, TP53, and PTEN, have well known cancer risks, with specific medical management recommendations set by the National Comprehensive Cancer Network (NCCN). Other genes indicating cancer predisposition may have less-established risks, and may not be included in published recommendations for cancer surveillance. In such situations, cancer prevention and surveillance measures recommended by your healthcare provider should not be based on your genetic test results.

Talk with your healthcare provider about the best strategy to avoid or reduce your risk of cancer.