‘Breast cancer needs to be discussed to be defeated’: Everything you need to know about hereditary breast cancer

“Breast cancer is a deadly disease.”

You’ve probably heard this sentence repeatedly every time you make a call. The government-run audio message is designed to raise awareness about this fatal disease. In fact, most of our knowledge about the illness stems from such awareness campaigns.

Like many young women, Zahra Khan, at the age of 30, had never actively thought about breast cancer. Little did she know that on one ordinary day, she was about to grasp the true meaning behind these two words. Her life would be forever changed.

“It was a random thought that made me check myself while changing clothes in January. At that time, nothing had changed, no symptoms, everything was fine,” she recalled.

“I just randomly chose to check myself and I felt like this hardened area on the top of my breast. And then Alhamdulillah, I had the sense to instantly go get it checked.”

Khan quickly rushed to a general practitioner (GP) who confirmed that there was a lump for which she needed to get a mammogram and ultrasound. She went through the entire process till a biopsy where she found out that she did, in fact, have breast cancer.

“When I found out it was breast cancer, the doctors asked me, ‘how old are you?’ and whether I have a family history,” she said. Khan explained that typically, when a woman around her age — which is considered young for a breast cancer diagnosis — is diagnosed, the disease is attributed to being hereditary breast cancer.

Hereditary breast cancer as well as ovarian cancer occurs when there is a mutation of the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. These two genes are assigned to protect the body from getting certain cancers. The mutation stops them from performing their functions properly. It is important to note that if one inherits one of these mutated genes, that does not mean that one will definitely get the disease. Rather, it means that the chances of them getting these illnesses significantly increase.

Roughly 13 per cent of women in the overall population are expected to experience breast cancer at some point in their lives. In contrast, women carrying a deleterious BRCA1 mutation have a 55 per cent to 72 per cent likelihood of developing breast cancer by the age of 70 to 80, and women with a harmful BRCA2 mutation have a 45 per cent to 69 per cent probability of developing the disease within the same age range.

Around 1.2 per cent of women in the general population are expected to experience ovarian cancer at some point in their lives. In contrast, women with a detrimental BRCA1 mutation have a 39 per cent to 44 per cent chance of developing ovarian cancer by the age of 70 to 80, while those with a harmful BRCA2 mutation have an 11 per cent to 17 per cent likelihood of developing the disease within the same age range.

Mother and father’s side

“I very confidently said that ‘yes, I do. But it’s only on my dad’s side. I don’t have it on my mother’s side’,” Khan said. Like a lot of people, she also was under the incorrect impression that breast cancer can be only passed down from your maternal side. “My whole life I felt I was safe,” she chuckled.

A common myth about the disease is that genetically, one can only carry it if it is passed down from their mother’s genes. That is not true — men can carry the gene too and there’s always an equal probability to get the hereditary cancer gene from one’s father.

“A lot of misconception is that you cannot get that gene from your dad. It always comes from the mom,” said Fizza Akbar, a genetic counsellor at the Aga Khan University Hospital in Karachi. “When we do the family history and ask for the family history, patients would say that ‘my father does not have breast cancer but my phuppo had it or my dadi had it’. They can’t see the gene passing down from their dad.

“Technically, if I’m a man, since I don’t have all the gynaecological female organs, I will never have the disease, because majorly they are all female cancers. However, I can pass it on to my daughter,” Akbar explained. “A lot of times, people don’t see it segregating from the dad.”

This misconception is so well-established that people tend to sometimes ignore the family history on their father’s side of the family.

“They always think that it is coming from their mothers, again making women the centre of the problem,” she pointed out.

Another aspect of culture plays a role here as well. “People tend to associate themselves only with their father’s side and say, ‘no, there is no cancer in our family, it is only in my mother’s side of the family, but that isn’t our family’. These biases from the patients, if you’re not tackling it correctly in the clinic, will make you miss out on relevant family history that can help you get them tested.”

Mutated BRCA1 and BRCA2 — autosomal dominant condition — have a 50 per cent chance of being passed down. Both the mother and father can be carriers of the gene, without explicitly experiencing the disease, and pass down it to their child. The 50 per cent chance of it being inherited by the child starts over again with every pregnancy, therefore, there is no way to predict with surety whether offspring would carry the gene.

“There are a lot of misconceptions that if one child has it then the next will not or vice versa. But this doesn’t happen,” Akbar stressed. “And it’s all theoretical. Sometimes none of my children would have inherited that gene because I have one faulty [gene] copy, one correct copy. At the time of fertilisation, we don’t know what [our children] will actually end up inheriting from us,” she explained.

“These genes [that we talking about] are DNA repair genes. Our body is constantly dividing into more cells as part of the cell cycle. Cancer cells are basically normal cells dividing really fast. When there is a defect in the DNA repair gene, then the machinery that is making sure that there is no error in the cell division stops working as it should. Then your body starts producing cells that replicate really fast and turn into cancer cells.”

Basically, if the gene that is supposed to enable the cancer protection machinery’s protein has one copy that is defective, then the gene would still work, which is why you will have the disease after you have lived 30 to 40 years of your life. However, if both copies are at fault, then the protection machinery won’t work at all. This means that in the first few years of life, your body will start producing cancers.

It is important to note that in the case of breast cancer, a number of genes are involved aside from BRCA1 and BRCA2. “A lot of times we just talk about BRCA1 and BRCA2 even though there is a whole lot spectrum of genes which predispose to breast cancer. As a result, even the referring physicians would tell patients to check BRCA1 and 2 since they are the most prevalent,” said Akbar.

“But knowing that I am BRCA1 and 2 negative does not mean that I do not have hereditary breast cancer because other genes that can predispose me to breast cancer were not looked at,” she highlighted, pointing towards the need for testing a spectrum of other genes that can lead to practitioners “missing out on about half of patients from diagnosing them with hereditary breast cancer and offering them better-tailored management and care for not only them but also their family members who may be at risk.”

Why the genetic test?

‘I already know I have breast cancer. Why should I get tested? What difference would it make to know whether my cancer is hereditary or not?’ — one might have these questions when talking about genetic testing after a cancer diagnosis.

To illustrate the significance of testing, Akbar presented a hypothetical situation. “I am meeting a 50-year-old woman with breast cancer, and she has tested positive for the BRCA1 mutation. She has a daughter who is 25. What can we do for the daughter?

“We all know that we need to start risk screening at the age of 40. But if someone has a hereditary breast cancer gene, they have to start much earlier. Someone who is positive [for that gene] needs to start screening at the age of 25. So between 25 and 30, they do annual breast MRIs. And from 30 onwards they should get breast MRIs and mammograms every six months.”

This is because hereditary breast cancers present earlier than other sporadic forms of cancers. Therefore, they also need to be diagnosed earlier. Early detection of the gene helps start early screening for breast cancer

In families that carry the BRCA gene, there also lies the risk of ovarian cancer. However, the screening for ovarian cancer “is not great”. “A lot of times it’s not picked up on time. In that case, the ideal age to start thinking of risk-reducing ovarian removal for BRCA1 is 35 to 40 and for BRCA2 is 40 to 45,” Akbar explained.

Even if one decides to not get their ovaries removed through an oophorectomy, they can still start with some form of a screening process for ovarian cancer.

Additionally, knowing that one carries the BRCA gene also helps them make informed family planning decisions. “If you are a 22-year-old and find out [about the gene], you can be more proactive about your reproductive decision-making. You can understand that ‘this is my window, after which I will be at risk of developing ovarian cancer. I should have my children by this age, and then you know, have my ovaries out by a certain age.’ This is how you can also change your lifestyle and your preferences.”

There are no preventive medications at this point to prevent cancer as the change is at such a small DNA level and doctors can’t change the DNA code. Since that can’t be done, what can be done is to take measures to detect early and use targeted medications after they are diagnosed because of their gene.

The other side of the coin is that if a 22-year-old finds out about her disease risk, she might question whether she wants to pass it down to her children. “For some families, it’s something that they would not want to pass on to their children. I’ve met women in their early 30s or late 20s who have the gene and are in their reproductive window but don’t want their future children to suffer from it. We can also offer them prenatal diagnosis so that their diseases are prevented in the next generation,” the counsellor explained.

“For every family, it’s a different story. Some people would not care about what’s an adult-onset disease, ‘I don’t want to, you know, terminate a pregnancy for a disease that is not going to affect my child in the first years until adulthood, and till then things would change and we will have a better way of combating that risk’.

“In other situations, people would have many people in their family who have suffered from cancer, and they have a very personal story to tell about cancer. And they would say, ‘I do not want my children to suffer from this because it’s a horrible, horrible disease’.”

According to Akbar, there are no right or wrong answers.

In many cases, one’s decisions are based on how closely they have seen the diseases. In her experience, people who have had family members suffer from it are more likely to get tested. They start surveillance early because they have lived with that fear, especially those whose loved ones passed away because of the disease. They’re more cognisant of what’s going on and can take better measures.

The ‘psychological burden’

“One of the downsides of a genetic test and testing positive is the psychological burden that it places upon you. The idea of pretest counselling is to help them understand what could be the possible outcome of the test, because a genetic test is going to stay with you for the rest of your life.

“It’s not like diabetes or a cholesterol test where one can fix their lifestyle, and do a test again, and it’s gone. They need to understand that this is a genetic change you were born with,” said Akbar.

“Some of them feel that the psychological stress is too much for them, that at this point in time, they would like to defer testing and we encourage them to do so. And then we say, when you are ready to do the test, only then will we proceed with it. Then we tell them to do the lifelong screening protocols,” explained Akbar.

“With that being said, there’s a need for us to have support groups. I’ve had 20-year-olds who got tested, didn’t have the disease but are positive for the gene. They’ve actively asked us if we have any support group so that everyone who kind of has the same story can you know, connect and you know, be there for each other. Again, this is something we should have but we don’t,” she stated.

Speaking about the importance of support groups and community in general when one is going through something as intense as cancer, Khan said, “It’s the most important thing because it made me have a different mindset. There was not much in Pakistan but abroad, there were so many breast cancer thrivers and survivors that I was following on Instagram, who had such an amazing, beautiful perspective on life in general, and coping mechanisms that it really changed my perspective and made me have a go-getter mindset.”

“Unfortunately, it doesn’t really exist [here]. I remember, when I was diagnosed, someone added me to a WhatsApp group, which had like five, six women in it. And barely anyone spoke, barely anyone talked about the real things that you want to talk about. It was a very surface-level support group. And in a support group, you want to be able to talk about things that you can’t talk about with anyone else or find out anywhere.”

This is why Khan is using her platform on Instagram to create a space for women where they can discuss things freely and openly. Her Instagram account is called @heybreastie which details every step of her cancer and recovery journey now has more than 5,000 followers.

“I haven’t created a support group as such. Women are constantly messaging me for the smallest of things. Someone just messaged me the other day saying, ‘can you help? I want to ask you something, please don’t get offended or sad. But I really want to know, can one have babies after breast cancer?’ That’s a valid question. Because we don’t know. Not a lot of women know. The information is not entirely out there. You want to hear from someone who’s been through it. And she just asked me this basic question. I told her, ‘yes, you can’,” the blogger said.

The $300 test

After getting diagnosed with breast cancer, Khan was advised to take a genetic test.

Six weeks later, she got the unfortunate news that she was positive for BRCA1. “That was pretty sad. Because everything was going well. The fact that I had got my cancer [diagnosis] on time. And it didn’t spread. I was getting good news, even though it was bad news — obviously, I got breast cancer, but it was good news after good news.

“The implications of having the BRCA [gene] are insane because it means you have to literally get rid of all of your female organs because that’s what it attacks. It attacks your breasts, and your ovaries […] it’s pretty traumatising,” she recalled being devastated by the news.

She was also told to get her family tested. The test itself costs $300, which makes it very inaccessible for most of the population. “It’s a very expensive test, by the way, it was $250 [two years ago]. And if you think about it now with the dollar rate, it’s insane. I was really lucky that my insurance covered it. Because honestly, if it wasn’t for free for my family, I don’t think they would ever get it checked. They would have been like ‘agar ayega toh ayega [If it happens, it’ll happen]’.”

The financial inaccessibility of the test was also brought up by Akbar. “We [Aga Khan University Hospital] outsource these tests, and they cost about $300. Now that the dollar rate has gone up, that’s about Rs90,000 to Rs100,000.

“So one of the challenges is the cost of the test, a lot of times people would come to you, even if they are coming from a certain socioeconomic background, they would want to know about the risk and they would want to know, you know, what they have to do for additional cancer protection prevention in the future. But they don’t have the means for it. They are already going through chemo, radiation etc. Then we [as practitioners] have to make choices. [In such circumstances, genetics testing] seen as a luxury,” Akbar explained.

“Yahan dawa nahi mil rahi aur ap agay ka risk aur in cheezon ki baat kar rahe ho [Here people cannot get medicine, and we are talking about future risks].”

From an “international standpoint, it is a very cheap test, because genetic testing generally is more expensive than other clinical tests, because of the technology it uses,” according to her.

“Outsourcing it outside is still [more] convenient than starting something here until we have enough numbers. One of the things that we really need to do to make it widespread is maybe have more funded projects to do the sequencing. Once you have the sequencer, you have the numbers and it goes into running, and the cost comes down naturally,” she explained.

“There are sequencers that are highly parallel, which means multiple samples go within the sequence of ones at one time, and then you churn out the results, which is basically the data, then you interpret the data,” she added.

Touching upon data interpretation, she acknowledged it to be a challenge but stressed that the “initial sequencing key cost depends on the number of the volume of your samples.”

For patients who do the test and turn out to be positive, AKUH offers their family members free testing within a certain period. Nevertheless, the cost of the initial test is a major hindrance for a majority of patients and is a “struggle for genetics globally”. For many that do not go ahead with the test, “most of the reasons were not their fear of knowing about the disease, or the mental stress, but because they didn’t have the means to get tested.”

The other challenge is that Pakistan currently lacks expertise in data interpretation. “Since the number of genetic diseases is low, it’s not a lucrative business, generally,” Akbar highlighted. “The fact is that there are very few people in genetics and there’s so much that we have to do. We need dedicated clinical genetics people to take care of the data.” Right now, geneticists in the country are working very “sporadically”.

Living with breast cancer

Aside from the costs of the tests and treatment, a significant area that often gets overlooked in the discourse around the disease is the psychological impact of not only breast cancer but the treatment itself.

“The psychosexual aspects of getting rid of human [organs]…there is a lot of stigma around [prophylactic mastectomy] and we don’t even address that,” said Akbar. “We never talk about those things, such as psychosocial, and sexual functioning after a risk-reducing mastectomy.

“A lot of times, as a woman, I’m sensitive to it. There’s your body image and everything. Sometimes I feel like, even when I’m counselling them for the risk of having the disease [again in the future], I do tell [patients] that we can start with early detection protocol, and not do any preventative surgery right now,” she said. “As a woman, I try to tell them that it’s okay to feel a certain way. Because it’s not easy. It’s really easier said than done.

“Initially, people wouldn’t want to come to us because they had the impression that these people do a test and then say it’s positive, and then tell us to remove both breasts. So we don’t want to do it.”

Khan, as a survivor herself who has now beaten stage 2 breast cancer, mirrored this sentiment and narrated her experiences. “If you have the BRCA gene, you can’t essentially stop cancer from coming unless you get rid of all of your breasts and ovaries, which for a woman, you have to be absolutely brave to do.”

When the family got back their test results, they learned that her mother was BRCA negative while her father and two sisters were positive. “It was like doom’s day for all of us,” she recalled.

“My two sisters; my elder sister had put her head under a rock because it’s so hard for her to make a decision to remove breasts and ovaries [even though] she doesn’t even plan on having children, she doesn’t have children. She is married but they have no plans.

“I keep telling her to just get rid of it all. Get rid of your ovaries, you don’t even want to have kids, but you know, all of these invasive surgeries, things that kind of make you what you are as a woman, physically, your femininity, all of that, you know, removing these parts of yourself, it has to do with one’s body image,” she underlined.

At the moment, her sisters are doing regular mammograms and ultrasounds for their breasts and ovaries and have no plans to get their organs removed any time soon, given how difficult that decision can be.

“I had to get them removed,” Khan said, being quite open in sharing her own journey. She got her breasts removed last August.

Since she plans on having children, she “tried beating around the bush by just getting rid of one and keeping the other because [she] wants to breastfeed” in the future but her doctors told her that she could “do that, however, if God forbid it comes in your other breast, you can’t just remove it, you will have to go through chemotherapy all over again”. That’s when she decided that she does not to go through the intensely painful process once more.

“If I’ve gone through the hell of chemotherapy, I need to go all out with my entire treatment and ensure that the stupid cancer never comes back again,” she said.

Her husband was extremely supportive of the decision, giving her immense strength to do it. She recounted him telling her, “‘Dude, you don’t even have children right now. And who knows if you can even breastfeed, like a lot of women cannot even breastfeed. So are you going to put your life at risk for a situation where you don’t even know what will happen?’ That kind of strength gave me the confidence that this was the right choice that I need to make which is to get rid of both of [my breasts].”

The doctors told her that she needs to get her ovaries removed in the next 10 years, once she is done with having children.

Aside from the organ removal procedures, the treatment itself adversely impacted her mentally, on many levels.

“I gained a lot of weight. I was in menopause for six or seven months. And in that time, your sexual libido is also completely zero, you do kind of start feeling guilty that you’re not being able to provide that for your husband,” she said. “When I lost my breasts. It hit me like, four or five months later, when shaadi season began.

“What do I wear? Looking for padded bras was such a difficult thing because I didn’t get any reconstruction done since I didn’t want to put my body through that. It was a very hard time for me because you want to look beautiful, and you want to look great.”

However, she kept reiterating that in these circumstances her family, in-laws and husband were her biggest support system.

“Even from your parents, the smallest of things that come from [them] can really affect you. There’s one side to it where you can have parents and a mother who’s cheering you on and telling you to go out bald. ‘You don’t need to wear a scarf. You don’t need to cover your head. Own it, be confident.’ I remember my mother-in-law was super supportive.

“She told me ‘You look beautiful without a scarf. you don’t need to wear anything. Look at your vibe. You know, you have a different look. You have a different look on every single part of your face’ and it was so true,” she remembered.

However, not everyone is as fortunate as Khan. “There are some mothers and parents who will kind of be like ’beta dupatta pehn lo sar pe [cover your head with a scarf].’ These things really can have a huge psychological impact on you.

“It was my husband who I would always try to get like a real genuine response from, if I should wear a wig or not but he has never said any such thing to me. He would tell me that any kind of look that I opted for was beautiful. So it was up to me to decide whether I should wear a topi [hat] today or a scarf or a wig or go completely bald,” Khan said.

‘Pain is temporary’

When I asked Khan what she felt was one way to never react to someone’s news of a cancer diagnosis, she said not to “freak out”.

“A lot of people freak the hell out when they hear ‘cancer’. And obviously, because of the chemotherapy treatment more than anything. It is the chemo treatment that really kills you. It’s like a weird thing of making you survive by killing you.

“I remember when I was diagnosed, there were a lot of people who reacted in a way where they were like ‘Haye Allah, you won’t be able to go outside, you won’t be able to meet people. You will become a vegetable’. And I remember those things freaking me out, I was like ‘oh, my God’. I literally thought my life would end once I started chemo,” she said.

“And people who pass these harrowing and negative comments, they’re doing it with good intentions. They’re like trying to give you a heads up, but it’s actually negatively impacting my mind.”

Instead of reacting with panic and stress, she said that when you’re talking to someone who’s been diagnosed with breast cancer, you have to “say to them, you’re going to do it and you’re going to do great. And there’s nothing to worry about. Because pain is so temporary. That time will pass like this, and you will be out of it soon.”

Please, talk about it

To remove the stigma that still exists in our society around breast cancer, everyone should talk about it. Khan recalled her husband saying that “breast cancer needs to be discussed to be defeated”.

“It is so important because the fact that we aren’t talking about it makes women get diagnosed at stage three or four when it’s not curable. Because they’re hiding, they’re not getting themselves checked, they’re too scared to get the mammogram. Because of society, because of their husbands, in-laws and all of that.

“The more we talk about it, the more men will also be aware and become exposed to how one should be with their wives or their loved ones when they’re going through all of these things. The more we talk about it, the more we talk about it in an open manner,” Khan stressed.

The key is to make the topic relatable and approachable. “When I hear on the phone, ’chaati ka cancer ek jaan lewa bemaari hai [breast cancer is a deadly disease]’, it’s very alienating. It sounds super scary. It sounds super unapproachable,” she said.

“That’s what I also do, even through my platform, I try to not dumb things down but just make things more accessible and relatable in the words I use, in the conversations I’m having, in everything. Because that’s what I would always look for as well.

“I hated reading things on Google about breast cancer or the treatment. I was always following people, looking at their real-life stories, understanding how they’re doing it, what they’re doing, and what their day-to-day lives are like during cancer. And that’s what I want to keep showing as well. Like, you can freaking live a normal life during and after cancer as well!” Khan explained.

Please love yourself

For women who often feel scared of checking themselves and getting tested, Khan had only one message — “Love yourself, make yourself a priority, make your life a priority. Shut down the noise from society. Shut down any judgments coming from them. If you want to put your life first, then you need to give your body importance. You need to check yourself.

“You need to know what your ‘normal’ is. And if there is something wrong, then there is no harm in just going for consultation and getting it checked. Just keep touching yourself, there is no harm in it, and there is no shame in it. Remove the shame. Accept that this is the reality, breast cancers have become so common. Take charge of your life.”

We couldn’t agree with her more.