Hereditary Breast and Ovarian Cancer Awareness week

Although not typically a thing in Australia yet, in the United States, the month of September is ovarian cancer awareness month and October is breast cancer awareness month. The week in between these months has become the hereditary breast and ovarian cancer (HBOC) awareness week. The aim of HBOC awareness week is to raise awareness of hereditary breast and ovarian cancer and other related cancers. It also increases awareness of people with either a strong family history of these types of cancers or people or families with a genetic predisposition to breast and ovarian cancer, for example, having a gene change or mutation in BRCA1 or BRCA2 or other related genes. People with a gene change predisposing to cancer but who have not had cancer themselves are sometimes referred to as previvors as opposed to the cancer survivors who have had cancer.

Different support groups are conducting various events to mark the week. One such group is called FORCE and the link is below.

http://www.facingourrisk.org/get-involved/events/special-event.php

I have recorded a podcast, which will become live during this week to help raise awareness. I have three fantastic guests. They are Ellen Matlof from My Gene Counsel who is a certified genetic counselor in the USA. My second guest is a lady called Nicole who has recently found out that she has a BRCA2 mutation. She hasn’t had cancer herself but has a family history of cancer. My third guest is Krystal Barter who is the founder of Pink Hope and she has a BRCA1 mutation.

For more information about genetic counselling and testing for a predisposition to cancer, please see the following links:

https://rarediseases.org/rare-diseases/hereditary-breast-ovarian-cancer-syndrome/

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-32-breast-and-ovarian-cancer-and-inherited-predisposition

Consanguinity

A few weeks ago I was contacted by a journalist who is writing a story about relationships between first cousins. She was curious to get a genetic counselor’s view on the issue. When two people have children together who are related, this is called consanguinity. This word comes from the Latin meaning from the same blood. In the Australian culture which heralds from the British Isles, marriage between first cousins is not common, is not encouraged and has a certain stigma surrounding it. However in other cultures, first cousin relationships are not only okay, but they are also actively encouraged. Having children with a relative like a cousin can even have advantages. “Keeping it in the family” so to speak. Families are already aware of what “they are getting into”. They understand each other’s background and financial backgrounds.

However, most people are cognizant of the fact that there can be a higher chance of having a child with an illness when one has children with a relative. This is due to what is known as recessive inheritance. Some conditions, such as Down syndrome, are linked to the mother’s age. The older the mother is at conception, the higher her chance of having a child with a chromosome problem. Dominant conditions can spontaneously occur, due to a fault or mutation in a gene in the egg or the sperm. The chance of this happening actually increases with the age of the father. However, when two people are related, they have a higher chance of both being carriers of the same recessive condition. All of our genes come in pairs; one from each parent. With recessive genetic conditions, an affected person has two copies of the same gene that is not working properly. Their parents who have one working and one non-working copy of the gene are known as carriers. Our relatives are more likely to be carriers of the same genetic conditions and this is why the rate of genetic conditions is higher in people who are born to first cousins.

What most people don’t realize though is that this risk still isn’t really high. The chance of any two unrelated people having a child with a medical problem is about 3%. When two people who are cousins have a child, their chance of having a child with a medical condition is doubled to 6%. So more than 90% of the time there are no problems. This is explained in more details in the fact sheet written by The Centre for Genetics Education, which I have shared the link below. Genetic counsellors are equipped with the knowledge and skills to help people who are seeking information regarding first cousin marriages. We provide this medical information in a non-judgmental way free from stigma. However, consanguinity is not to be confused with incest, which is sexual relations between close relatives such as siblings or parents and children. This is illegal. Consanguinity isn’t something that a lot of people this a lot about. But people in consanguineous relationships often think about it a lot. There can be guilt and shame associated with the stigma. I hope knowing a bit more about this topic can help diminish this.

Fact sheet

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-18-when-parents-are-relatives-consanguinity

Lift for Li Fraumeni syndrome #Lift4LFS

Last week I was lucky enough to attend a conference called the “Familial Aspects of Cancer Research + Practice”. This annual conference is arranged by the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer or kconfab for short. It is attended by scientists working in familial cancer from all over Australasia and the world and is also attended by genetic counsellors and doctors as well. There are presentations about many different aspects of cancer that runs through the family, but my favourite talk this year was by the Li Fraumeni association of Australasia.

Li Fraumeni syndrome (LFS) is a genetic condition where people with a gene change (mutation) in a gene called tp53 live with a high predisposition to developing cancer. People have a 50% chance of developing their first cancer by the age of 50 and up to a 100% chance of having cancer by the age of 80. LFS follows what is known as an autosomal dominant meaning that when a person with LFS has a child, there is a 50% or 1 in 2 chance of passing this changed gene on. The tp53 is often referred to as the “guardian” of the genome meaning that when there is a mistake or fault in this gene, it can have a devastating effect on the body.

The Li – Fraumeni Syndrome Association (LFSA) was created in the USA in 2010 as a way of providing and facilitating advocacy, support and information for those affected by LFS. The Australia and New Zealand chapter of the Li – Fraumeni Syndrome Association has recently launched. The mission of the LSFA is to bring together medical practitioners, researchers and scientists, patients and caregivers to further good research and care of individuals and families with LFS. Check out their video on youtube!

www.lfsassociation.org

www.kconfab.org

#lift4LFS

 

Factsheet:

https://rarediseases.org/rare-diseases/li-fraumeni-syndrome/

Resources:

http://www.geneticalliance.org.au/conditions_detail.php?Li-Fraumeni-syndrome-322

LFS video

https://www.youtube.com/watch?v=Bh3otLnixyg

Three Identical Strangers

Yesterday I went to see a movie called “Three Identical Strangers”. It’s the story of three identical male triplets separated at birth and reunited at the age of 19. As a genetic counsellor I often ponder the question of nature versus nurture and this movie investigates this theme superbly. Identical twins and triplets are born with the same genetic make-up. However when these type of siblings are reared apart, there is an argument that this informs or gives an indication to which traits or attributes have a strong genetic or hereditary component and which ones are more due to one’s environment.

Research tells us that the most rigorous experiments or studies are ones called “randomized control trials” where a group of participants are randomly assigned to being an active participant or being a control. In medicine we see this type of trial where a group of people with the same condition are randomly divided into receiving either a medication or treatment under investigation or they are given a placebo and are what are known as controls. However with adoption studies, because we have modern day ethic committees who oversee all research conducted, a researcher cannot randomly assign newborns to being either adopted or to stay with their birth parents so observational studies are performed. This is where people “assign” themselves and researchers observe differences.

In psychology, these types of studies were conducted to measure personality or behavioural traits such as extroversion and psychological disorders such as depression. I am often asked if conditions such as autism or depression are “genetic”. When people say “genetic” in this context, they mean is there a strong inherited link. Science is not at the stage where there is a simple genetic test for traits or conditions like depression or autism. In reality, like most things, there is a combination between genes and environment; we may be born with a predisposition however how we are brought up or what we are exposed to can greatly influence the development of these attributes.

People are amazed with how identical twins (either separated at birth or not) are similar. I feel that these similarities are encouraged and reinforced. Twins separated and reunited like seeing what they have in common. It reminds me of when people start a new romantic relationship, couples dwell in what they have in common. It is not usually until later do couples consider how they are different.

Isn’t it lovely that we as humans have influence on what we experience or how we are as people? Our personalities and our traits and what makes us, us are not set in stone. It can change. We can change. If we have three copies of chromosome 21 we will have Down syndrome or if we have two serious mutations in our CFTR gene we will have cystic fibrosis. However if both of our parents have schizophrenia, it does not mean that we will also have this illness. If many of our relatives are outgoing, it does not mean that our children will be too. Three Identical Strangers is a fantastic documentary combining the things that I love; genetics, psychology, the theme of nature versus nurture and ethics. If this sounds like your cup of tea, check it out!

https://www.imdb.com/title/tt7664504/