One time I was taking a family history of a man and I asked if he’s of Ashkenazi Jewish ancestry. He looked at me skeptically and asked what religion had to do with anything? Thinking back, it is an odd question to ask someone out of context. For the record I don’t care about anyone’s religion; but I do care about ancestry, background, roots, etc. It just so happens Jewish faith and Jewish ancestry are oftentimes closely entwined. So why does the cancer genetics community care about people who are Jewish and why specifically Ashkenazi Jews and not Sephardic Jews?

It’s simple – people of Ashkenazi Jewish ancestry are 10x more likely to have a gene mutation in BRCA1 or BRCA2 compared to people of non-Ashkenazi Jewish ancestry. Ancestry is important in a risk assessment for any genetic condition and the reason we ask is because some ancestries have higher rates of genetic mutations. Why? Well that’s not so simple.

Religion, culture and language are huge factors that isolate populations even if they share the same geographic area. French Canadians are a good local example of how language isolates a group of people that are in the same country (there are exceptions to the rule of course). Generations and generations of isolation makes the dating pool less and less diverse over time and the genes in these populations get recycled. The result, not a lot of genetic diversity, so we see increased rates of certain genetic conditions.

People of Ashkenazi Jewish ancestry don’t have the most diverse BRCA genes. Over 90% of Ashkenazi Jewish BRCA mutation carriers have 1 of 3 common mutations, we call these founder mutations. What’s more, 1 in 40 people of Ashkenazi Jewish ancestry have a BRCA gene mutation compared to about 1 in 400 non-Ashkenazi Jews.

So what does this all mean? It means our criteria for offering genetic testing for BRCA1 and BRCA2 to people of Ashkenazi Jewish ancestry is pretty relaxed. There is a simple test we can order that looks at the 3 common mutations. As a result, anyone of Ashkenazi Jewish ancestry with a family history of breast and/or ovarian cancer is eligible for a genetic assessment and genetic testing will very likely be offered to someone in the family.

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BRCA Milestones dictate when and how medical care can change. They can also help people at 50% risk for a BRCA gene mutation decide when they want genetic testing – if they decide to have testing at all. If someone tests negative for the BRCA gene mutation in the family, their road changes and BRCA Milestones no longer apply to them. If someone with a BRCA gene mutation in the family declines genetic testing, we screen them as if they are BRCA carriers for good measure.

Milestones for Genetic Testing of BRCA1 or BRCA2

• 18 years of age: In Ontario 18 years of age is the generally agreed upon age for young adults to consent to genetic testing for adult onset conditions like Hereditary Breast and Ovarian Cancer. Although exceptions to this “rule” may be made on a case-by-case basis, age 18 is typically the youngest age we offer genetic testing to people at 50% risk of having a BRCA mutation.

• 25 years of age (women only): At Sunnybrook, 25 years of age is when female BRCA carriers may be followed in our High Risk Breast Clinic. Screening in this clinic involves clinical breast examination.

• 30 years of age (women only): At age 30, female BRCA carriers may be enrolled in the Ontario Breast Screening Program for women at high risk of breast cancer. At Sunnybrook women are seen in the High Risk Breast Clinic and receive annual mammograms and breast MRI unless they are pregnant or breast feeding.

• 35 years of age (women only): Between the ages of 35-40 we recommend female BRCA carriers have both ovaries and fallopian tubes removed to prevent ovarian and fallopian tube cancer.

• 40 years of age (men only): At Sunnybrook 40 years of age is when male BRCA carriers may be enrolled in our Familial Prostate Cancer Clinic. Screening in this clinic involves an annual PSA test, physical examination and clinical breast examination.

• Thinking of having children: If you are a BRCA carrier, there is a way to prevent the BRCA mutation from being passed on to the next generation. The process is called Preimplantation Genetic Diagnosis (PGD). PGD involves in-vitro fertilization where a sperm fertilizing an egg outside of the body. The resulting pre-embryo is tested for the gene mutation. The pre-embryo without the gene mutation is implanted into the womb. PGD is not covered by OHIP and to some people PGD is an ethically charged option.

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Before a woman has genetic testing she gets genetic counselling. It is during this pre-counselling session that breast cancer risk management options for BRCA carriers are first discussed. These options include…

1. Breast Cancer Screening: Yearly mammograms and breast MRI
2. Breast Cancer Prevention: Double mastectomies and reconstruction, double oophorectomies (removal of ovaries) and preventative medication (tamoxifen)
3. Taking no action: Choosing not to do breast cancer screening or breast cancer prevention

To screen or not to screen, that is the question. For some women with a BRCA gene mutation, screening is a no-brainer. For others, mastectomy and reconstruction is the obvious choice.  For women who are on the fence and would consider double mastectomy, there are days like Breast Reconstruction Awareness (BRA) Day.

BRA Day takes place on October 15th, The goal of BRA Day is to promote education, awareness and access for women who may wish to consider post-mastectomy breast reconstruction. How does BRA Day do it? They have multiple events taking place throughout Canada and the world. In Toronto, they’re bringing in an exceptional group of oncologists, surgeons and even a tattoo artist to talk about breast reconstruction options (I have the list of speakers below). Then they give you time to ask these experts any questions you have. On top of all that they offer a Show & Tell where you can see first-hand the results of reconstruction.

BRA Day is free, it’s educational and it’s one of the few opportunities where experts, advocates, past patients and prospective patients are all in the same place. It’s an opportunity for all these people to learn from each other. For more information on BRA Day or to register online, visit their website.

After October 15th they will have a webcast available online for those who could not attend.

Speakers Panel:

Choosing the right type of reconstruction        Dr. Snell
Prophylactic Mastectomy                                   Dr. Mahoney
Reconstruction after radiation                           Dr. O’Neill
Direct to implant using Alloderm                      Dr. Musgrave
Reconstructing the nipple                                   Dr. Beber
Nipple areola tattooing                                       Kyla Gutsche
Balancing the other breast                                 Dr. Lipa
Fat Grafting in breast reconstruction                Dr. Semple

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1. Male Breast Cancer – Any man who has been diagnosed with breast cancer, regardless of his age or family history, is eligible for genetic testing for BRCA1/2 gene mutations. Breast cancer in men is rare. In the general population the risk is less than 1%. Men with a BRCA1/2 gene mutation have up an 8% chance or 1 in 12 chance of getting breast cancer. Men with BRCA mutation should receive clinical breast exams. Men may even receive mammograms depending upon their personal medical and family history.

2. High Grade Serous Ovarian Cancer – Any woman who has been diagnosed with high-grade invasive serous ovarian cancer, regardless of her family history, is eligible for genetic testing for BRCA1/2 gene mutations. Every woman has a 1-2% lifetime risk for ovarian cancer. Women with a BRCA1/2 gene mutation have a 15-50% chance of getting ovarian cancer. Unfortunately, current screening for ovarian cancer has never proved to detect ovarian cancer at an early stage. Because of this, removal of both ovaries is recommended to female BRCA carriers between the ages 35-40.

3. Breast Cancer under Age 35 – Any woman diagnosed with breast cancer under age 35, regardless of her family history, is eligible for genetic testing for BRCA1/2 gene mutations. Based on Canadian Cancer Statistics, there is a 0.4% chance that a woman will develop breast cancer between the ages 30-39. Breast cancer in women under 35 is rare in the general population but it is not rare in women with a BRCA1/2 gene mutation. All women with a BRCA1 or BRCA2 gene mutation are eligible for annual mammogram and MRI under the Ontario Breast Screening Program for Women at High Risk starting at age 30. There are many ways to reduce the risk of breast cancer, for more information talk to your oncologist or genetic counsellor!

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That’s why there are conferences for individuals and families like the Living with BRCA conference in Montreal.  Living with BRCA is a one-day conference meant to provide up-to-date information on hereditary breast and ovarian cancer. It is an opportunity to hear experts from different disciplines discuss:

• cancer risk, screening and cancer prevention options
• body image and sexuality after preventative surgeries
• management of symptoms related to menopause
• your questions in a round table format

In the afternoon there will be opportunities to hear the stories of individuals who have BRCA gene mutations as well as meet and mingle with individuals who are living with, or are at risk for, hereditary breast and ovarian cancer.

The Living with BRCA conference will be held at the Centre Mont-Royal 2200 Mansfield Street in Montreal. It will take place Wednesday April 23, 2014 (two weeks from now) and goes on all day from 8:30am – 4:30pm.

Registration before April 15^th is $100. Registration after April 15^th is $110 and must be completed on-site. This fee includes access to sessions, conference documentation, lunch and coffee breaks.

The website for the conference can be found here

The registration form for the conference can be found here

I hope to see you there!

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1. You cannot inherit a BRCA1 or BRCA2 gene mutation from your father

BUSTED – Just like a woman, if a man has a BRCA1 or BRCA2 gene mutation there is a 50% chance that he will pass that gene mutation on to each of his children; son or daughter. When it comes to the BRCA gene, your father’s family history of cancer is just as important as your mother’s. Men can still carry a BRCA1 or BRCA2 mutation and never develop cancer (you can jump ahead to myth 3 for more information).

2. Women are always the first in a family to be tested for a BRCA1 or BRCA2 mutation

BUSTED – Men most certainly can be the first in their family to be tested for a BRCA1 and BRCA2 gene mutation. Here are three common scenarios when men are the first in their family to be tested for a BRCA mutation:

• A man diagnosed with breast cancer, regardless of his family history of cancer.
• A man is of Ashkenazi Jewish ancestry and has a family history of breast or ovarian cancer on mom or dad’s side.
• A man with a family history strongly suggestive of hereditary breast and ovarian cancer with no living family member with cancer

3. Men are not at an increased risk for cancer if they have a BRCA1 or BRCA2 gene mutation

BUSTED – Men are at an increased risk for breast cancer and prostate cancer if they have a BRCA1 or BRCA2 gene mutation. Pancreatic cancer and skin cancer are at a slight increased risk for both men and women. The difference between having a BRCA1 and BRCA2 gene mutation comes into play a little here as well. Men with a BRCA1 gene mutation are at the lower end of the risk spectrum and men with a BRCA2 gene mutation are at the higher end. The lifetime risk for cancer is as follows:

It is important to note that although the risk for cancer is elevated, many men with a BRCA gene mutation will not develop cancer.

 4. Prostate cancer in men with a BRCA1 or BRCA2 mutation is the same as prostate cancer in the general population

 BUSTED – Prostate cancer in men with a BRCA1 or BRCA2 gene mutation is more aggressive than prostate cancer in the general population. In the general population prostate cancer tends to be slow-growing – lots of men never get treated and instead have their cancer monitored through active surveillance. In contrast, men with a BRCA2 mutation may develop aggressive prostate cancer that needs to be treated. The data on the aggressiveness of prostate cancer in men with a BRCA1 mutation is less clear. BRCA1 carriers tend to have prostate cancer that is less aggressive than BRCA2 carriers but more aggressive the general population. A man’s BRCA gene mutation should always be factored into his prostate cancer management.

 5. There is no special cancer screening for men with a BRCA1 or BRCA2 mutation

 PLAUSIBLE – Men with a BRCA1 or BRCA2 gene mutation are screened very similarly to men in the general population. The main difference is that screening starts sooner and that men with a BRCA gene mutation have clinical breast exams. Screening starts at 40 years of age as opposed to 50 years of age in the general population. Screening includes annual:

• PSA blood test
• Digital rectal exam
• Clinical breast exam

Mammograms are not commonly done but may be clinically indicated. It is best to talk to your doctor or oncologist regarding mammography.

Screening options for male BRCA carriers may change in the future as more research into alternative screening methods is completed. At Sunnybrook there is a Familial Prostate Cancer Clinic (FPCC) run by Dr. Danny Vesprini, an oncologist who screens male BRCA carriers annually. Some men who are part of the FPCC choose to participate in the Male Oncology Research and Education (MORE) program run by Dr. Vesprini and Justin Lorentz, a genetic counsellor. The MORE program has many research initiatives including investigating new screening options for male BRCA carriers.

If you are interested in more information about the FPCC or MORE program please don’t hesitate to contact me by phone at 416 480-5000 ext.83683 or by email at justin.lorentz@sunnybrook.ca

The post 5 myths about men and BRCA appeared first on Your Health Matters.

1. Willow Breast & Hereditary Cancer Support

Willow is a Canadian nonprofit that started in 1994. It started with the intention to provide information and support for women diagnosed with breast cancer. Additionally, they hosts a great annual event called Breast Reconstruction Awareness (BRA) Day which happens in mid October. In 2010 Willow expanded their services to include one-on-one and group peer support as well as provides information for BRCA carriers. Of its fact sheets and resources my highlights are their guide “breast cancer in the family: understanding your risk” and their letter for informing family members about genetic test results.

2. Facing our Risk of Cancer Empowered (FORCE)

FORCE is an American nonprofit that started in 1999. It was the first North American patient support organization for BRCA1 and BRCA2 carriers and it’s famous for coining the term “previvor”: a survivor of the predisposition to cancer having not had the disease. FORCE hosts an annual conference in mid June. Their website has a lot of information describing hereditary cancer (inherited risk for cancer), cancer risk management (detailed screening and prevention options ), cancer treatment options and information on fertility, parenting and nutrition. They also have a toll-free helpline. The only word of warning is that screening recommendations are US-based and may vary in Canada.

3. Be Bright Pink

Be Bright Pink is an American nonprofit organization started by Lindsay Avner at age 23. Lindsay was the youngest patient in the US at the time to undergo a double mastectomy with reconstruction upon learning she carried a BRCA1 mutation. This website’s target audience is younger women with BRCA mutations. Be Bright Pink focuses on the prevention and early detection of breast and ovarian cancer while providing support for high-risk individuals. Naturally there are plenty of educational and support network resources available including young patient stories and support groups. Again, being an American website some of their documents such as their “Empowered Patient Guides”, although beneficial, may not be fully applicable to the Canadian medical system.

If you know of any other resource that has helped you in some way, I’d love to hear about it!

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Genetic counsellors are healthcare professionals specialized in genetics. We can wear many hats working in prenatal, pediatric and adult settings. Here at the Sunnybrook Odette Cancer Centre we talk to individuals and families about their risk of having a genetic condition that increases their risk of cancer. We give information about that genetic condition then we talk about genetic testing and what it means if a genetic test comes back positive or negative. We’re trained to do all this in a non-directive,  simple and sensitive manner.

 The goal of this blog is to provide information and generate discussion about topics, research and news related to individuals and families who have, or are at risk of having, a hereditary cancer syndrome. However, our main focus will be on Hereditary Breast and Ovarian Cancer (HBOC) – individuals with a BRCA1 or BRCA2 mutation.

Aside from myself, other members of my team may post on certain topics that they’re particularly interested. I’m a part of a small but mighty group called the Cancer Genetics and High Risk Program. We’re made up of four genetic counsellors, three general practitioner doctors in oncology, a medical oncologist as well as many students and volunteers.

I hope you’ll follow along with this blog and if you have any questions or comments we’d love to hear them.

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