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The genetics of cancer

August 23, 2013

Oncology group brings latest in hereditary testing to Eastern Connecticut

Generation after generation, hereditary information has been passed from parent to child, continuing the legacy of mankind.

While genes determine our eye, hair and skin color, these hereditary units of information can also include mutations. In addition, individuals with a specific mutated, or altered, gene are at greater risk for developing certain types of cancers during their lifetime.

Inherited mutations play a major role in the development of about 5-10% of all cancers.

At the forefront of oncology care, Anca Bulgaru, MD, a medical oncologist, and her partners at Eastern Connecticut Hematology & Oncology Associates (ECHO), located in the Medical Office Building at Backus Hospital, are expanding the scope of genetic testing available to those with risk factors for cancer. This is the same genetic testing that actress Angelina Jolie underwent, which made national news.

With a great interest in how genetics affect our risk for cancer, Dr. Bulgaru recently completed training in genetic testing and counseling through the Division of Clinical Cancer Genetics at City of Hope in Duarte, Calif. City of Hope is a nationally ranked cancer center that focuses on turning breakthrough scientific discoveries into better cancer treatments and prevention strategies.

“Dr. Bulgaru’s involvement represents the highest level of cancer care and patient advocacy,” said Peter Shea, MD, Backus Senior Vice President and Chief Medical Officer. “Through this training, she’s bringing the latest in genetic testing research to the communities of Eastern Connecticut, making it possible to receive even better cancer care, close to home.”

During a genetic counseling session for an individual identified at-risk for cancer, Dr. Bulgaru performs a comprehensive assessment, which includes three to four generations of family history. Individuals at-risk for carrying a genetic mutation may come from families with multiple cases of certain cancers (such as breast and ovarian cancer),  affecting close relatives, especially if diagnosed at a younger age and with unusual presentations, including cancer in both breasts or breast cancer in a male. Based on the assessed risk using different prediction models, genetic testing may be offered and performed through a specialized laboratory.

Results can be summarized in one of three categories — a person does not possess a mutated gene; a person does have a mutated gene; or a mutation of unclear significance is identified. Testing an affected family member has the highest likelihood of identifying a mutation and stratifying the risk for the other family members. For family members carrying a mutation, preventative treatment is generally recommended, which may include intensified screening, taking different medications or undergoing surgery.

One of the genetic assessments performed by ECHO is to check for BRCA1 and BRCA2 mutations, a class of genes known as tumor suppressors. Mutation of BRCA1 and BRCA2 is linked to both breast and ovarian cancers. In fact, 50-80% of individuals with a mutated BRCA gene will develop breast cancer in their lifetime, as opposed to about 8% without the gene.

In one such case, Elizabeth Laflamme-Baker, a resident of Danielson, was 28 years old when she noticed a lump in her breast. Concerned, she immediately contacted her primary care physician. After diagnostic testing including a mammogram and breast

MRI, Ms. Laflamme-Baker’s records were reviewed by general surgeon, Kathleen Kurowski, MD, a member of the Backus Medical Staff and Chelsea Surgical Care and Dinesh Kapur, MD, Medical Director of the Backus Cancer Center and a medical oncologist at ECHO.

“Within two days of being given the diagnosis of breast cancer, I met with Drs. Kurowski and Kapur,” said Ms. Laflamme-Baker. “Since I was so young and have a family history of cancer, they knew my disease was very aggressive.”

With indicators of having a mutated gene, Ms. Laflamme-Baker, her mother and her sister proceeded with genetic testing through ECHO. The results showed that she is in fact a carrier of the BRCA2 gene, and it most likely comes from her father’s side since her mother tested negative. Ms. Laflamme-Baker’s sister also tested negative for the gene, which confirms the pattern of transmission from generation to generation for the BRCA gene, as each sibling has a 50% probability of inheriting the mutation or not, said Dr. Kapur. Now her sister’s chance for developing cancer is the same as in the general population, and therefore standard screening procedures are generally recommended.

Following a rigorous course of chemotherapy and radiation at the Backus Cancer Center, in conjunction with a mastectomy also performed at Backus, Ms. Laflamme-Baker is now cancer free.

For this now 31-year-old, cancer was only a chapter in her life. In May, Ms. Laflamme-Baker and her husband, Brian, welcomed their son, Vincent, to the world.

“After my treatment was over, a fertility specialist told me that it would be nearly impossible for me to have children since chemotherapy cut my already slim chances in half,” said Ms. Laflamme-Baker. “A year-and-a-half after chemotherapy ended however, we found out about our little miracle. Cancer could not take our son from us.”

When asked if she and her husband would have Vincent tested for the BRCA gene, Ms. Laflamme-Baker said, “I know he has an increased risk for having the gene, but I hope by teaching him a healthy lifestyle including good nutrition and exercise, that he will live a long, happy life. Whatever decision he makes about genetic testing later on, we will support him.”

Dr. Bulgaru urges anyone who has a family history of cancer to consider a genetic assessment.

“Genetic testing allows us to identify a person’s risk for a certain cancer,” said Dr. Bulgaru. “If we capture this information early enough, we can often prevent the disease entirely, or catch it before it’s gone too far.”

Dr. Bulgaru said that she and her partners at ECHO work to integrate cancer risk assessments into their daily practice with patients, and anyone else who is at-risk. As part of a larger network of care, ECHO physicians then work closely with the clinicians at the

Backus Cancer Center to provide the latest in diagnostic and treatment options.

For 15 years, the Backus Cancer Center has been offering Eastern Connecticut state-of-the-art cancer care, close to home.

“People do not have to be an oncology patient to have an assessment,” Dr. Bulgaru said. “For individuals who test positive for a mutated gene, or are at risk for cancer based on their personal and family histories, we can develop personalized risk reduction strategies

and proper follow-up. It’s important to take away that with early detection and prevention, people can live very fulfilling, happy, healthy lives — cancer doesn’t have to be their whole story.”

Family matters

Some of the common cancers linked to family history:

  • Breast cancer
  • Colorectal cancer
  • Ovarian cancer
  • Prostate cancer
  • Thyroid cancer
  • Melanoma

When you should suspect a hereditary cancer syndrome:

  • Cancer in two or more close relatives (on same side of family)
  • Early age at diagnosis
  • Multiple primary tumors
  • Bilateral or multiple rare cancers
  • Constellation of tumors consistent with specific cancer syndrome (for example, breast and ovary, colon and endometrial, pancreatic and melanoma)

A lesson in genealogy

In an assessment for genetic testing, Anca Bulgaru, MD, a member of the Backus Medical Staff and medical oncologist at Eastern Connecticut Hematology & Oncology Associates (ECHO), said that bringing a detailed family history of cancer to the appointment is key, including the type of cancers and the age at the time of diagnosis.

“Although it can be very challenging to track down three to four generations of family history, this information is very important,” said Dr. Bulgaru.

For example, if a 45-year-old mother were to have an assessment, she would ideally bring any cancer history on her children, her siblings, her parents and her grandparents. Family history on paternal and maternal side of the family is equally important.

If you have any questions about genetic testing, talk to your primary care physician or call the ECHO office at 860-886-8362.