BRCA Gene Mutations and Pancreatic Cancer

Cancer Awareness ribbons. BRCA gene mutations and cancer awareness. BRCA gene mutations and pancreatic cancer

This is a transcript of Episode 5 of the BRCA Gene Mutation and Cancer Awareness podcast.

Intro

Welcome to the BRCA gene mutation and cancer awareness podcast.  I am Christina Henry of Midlifestylist.com.  I am a Registered Nurse with a BRCA2 gene mutation.  My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk.  BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of.  My podcast aims to change that.  I will also discuss other topics of interest such as genetic counselling and testing, cancer screening and prophylactic surgery.  If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you.  Thanks for joining me.

The Link Between BRCA Gene Mutations and Pancreatic Cancer

The third most common cancer associated with a BRCA1 or 2 gene mutation is pancreatic cancer.  Pancreatic cancer is the fourth most common cause of cancer death in the US and Australia, and has the worst five year survival rate (<9%).

A family history of pancreatic cancer is found in 5-10% of pancreatic cancer patients.  Of the known genetic mutations involved in familial pancreatic cancer, BRCA1 & 2 are the most common.  BRCA2 mutation carriers have a 3.5 fold risk of developing pancreatic cancer.  The risk associated with BRCA1 is unclear – some studies suggest a 2.2 fold risk, others say there is no increased risk.

Currently surgery is the only curative measure, but only 15-20% of patients are diagnosed with resectable disease.  Even if the cancer is resected, 75% of patients will experience disease recurrence within 5 years.  These statistics are a grim reality for people with BRCA gene mutations, and one that I find very concerning.  Because my father died from pancreatic cancer, I am at high risk.

Pancreatic cancer awareness ribbon.  Caption:  Pancreatic cancer facts.  4th most common cancer death in Australia and USA.  Worst 5 year survival rate
Pancreatic cancer facts. 4th most common cancer death in Australia and USA. Worst 5 year survival rate

Risk factors associated with BRCA1 and 2 gene mutations:

As well as a mutation in the BRCA1 or 2 gene, certain risk factors can increase the likelihood that cancer will develop.  For pancreatic cancer, an increased risk is associated with the following:

  • cigarette smoking,
  • chronic pancreatitis,
  • diabetes (especially type 2 diabetes),
  • liver cirrhosis,
  • obesity,
  • age,
  • being male,
  • exposure to certain chemicals used in metal refinery,
  • stomach infection with Helicobacter Pylori (which causes stomach ulcers)
  • and a high fat, meat based diet. 

A decreased risk is associated with a low-fat, high fruit and vegetable diet and quitting smoking. The single environmental factor associated with pancreatic cancer is cigarette smoking, which is estimated for approximately 25-30% of all pancreatic tumours.

High risk patients are first degree relatives of someone with pancreatic cancer, have Reutz-Jeghers Syndrome, or have mutations in BRCA1 or 2, ATM, PALB2, or Lynch Syndrome genes, and have first or second degree relatives with pancreatic cancer.

Pancreatic cancer awareness purple ribbon.  Caption:  The third most common cancer associated with a BRCA gene mutation is pancreatic cancer.  Pancreatic cancer awareness
The third most common cancer associated with BRCA gene mutations is pancreatic cancer.

We do have an opportunity to reduce our risk of many types of cancer, but not pancreatic cancer.   Lifestyle choices can help but we can’t have risk reducing surgery. Watch for symptoms such as the following:

Symptoms of Pancreatic Cancer:

  • Loss of Appetite
  • Fatigue
  • Abdominal and mid-back pain
  • Changes in bowel movements
  • Unexplained weight loss
  • New-onset diabetes.  Symptoms of diabetes may include excessive thirst, a high or low blood sugar level, increased urination or blurred vision
  • Jaundice – yellow skin or eyes
  • Itchy skin
  • Enlarged gall bladder
  • Changes in taste
  • Blood clots.

Like ovarian cancer, the symptoms are vague and may indicate a number of health issues.  Early stage pancreatic cancer rarely causes symptoms which makes it difficult to diagnose.  Seek medical attention early if you suspect that something is wrong.  Be an advocate for your own health,  be proactive with screening and maintain a healthy lifestyle. 

Screening for Pancreatic Cancer

At present there is no clear consensus on the optimal screening method for pancreatic cancer, the age to initiate and stop screening, how often to screen and the ways to treat patients with a tumour.  Screening may include MRCP (magnetic resonance cholangiopancreatography), or an endoscopic ultrasound.  The American College of Gastroenterology recommends that high risk patients should be screened yearly. They recommend a EUS and/or MRI beginning at age 50 or 10 years prior to the earliest age of pancreatic cancer diagnosis within the family.

The Pancreatic Cancer Action Network (PanCAN) recommends that all pancreatic cancer patients receive genetic testing for inherited mutations as well as genetic counseling.  For those with cancer, BRCA mutations can inform and improve treatment.  Cancer cells with a BRCA mutation may respond particularly well to a certain type of chemotherapy as well as a targeted therapy called PARP inhibition.  The PARP inhibitor Olaparib is recommended for patients with metastatic pancreatic cancer who have a BRCA1 or 2 gene mutation and whose tumour previously responded to a platinum based chemotherapy.

Pankind, the Pancreatic Cancer Foundation of Australia, is currently running a campaign because they aim to triple the survival rate of pancreatic cancer by 2030.  Through funding research, particularly into screening for pancreatic cancer, Pankind hope to improve the current outcomes for patients and their families.  Medical research is the single most important factor improving patient survival.  I will add a link in my blog to Pankind’s website where you can donate if you wish.

The Australian Pancreatic Cancer Genome Initiative is conducting one of the research studies currently in Australia. The trial is using EUS (endoscopic ultrasounds) to screen people at high risk of pancreatic cancer.  Hopefully the results of this research will improve detection and survival rates for people with pancreatic cancer.  There is a link to this information on my website.

Purple ribbon for pancreatic cancer awareness.  Caption:  The best protection is early detection.  Pancreatic Cancer Awareness
Purple ribbon for pancreatic cancer awareness.

My Experiences With Pancreatic Cancer Screening

Unlike breast and ovarian cancer, I can’t have prophylactic surgery to reduce my risk of pancreatic cancer.  My best bet is to have screening which will hopefully catch it at its earliest stages, when it is able to be resected.  My gastroenterologist has recommended a MRCP, possibly alternating with EUS.  Unfortunately when you have a BRCA2 gene mutation the fear of cancer is always there, but being proactive with screening will hopefully be enough to keep it at bay.

A couple of weeks ago I had an MRCP which is an MRI of the pancreas and surrounding areas.   MRIs are horrible.  I’ve had breast MRIs in the past which are extremely unpleasant as you need to lie still while lying face down with your breasts dangling through holes cut out of a board which applies pressure to your upper chest.  Your arms are extended above your head in such a way that your shoulders cramp up but you aren’t allowed to shift position to relieve the pain, or even breathe deeply.

I thought the MRCP would be a bit easier than the breast MRI because I’d be lying on my back.  But it wasn’t.   My arms were still extended above my head for the entire torturous 30 minutes. The fear of stuffing the test up and having to redo it caused an anxiety attack and claustrophobia.  My muscles in my neck, shoulders, arms and upper back went into spasm. Next time I’m requesting a sedative as every time I have one my reactions get worse.

Waiting For Test Results

Waiting for the results never gets any easier.  The reality of having a BRCA2 gene mutation is that we need frequent screening,  most of it painful, unpleasant and sometimes scary.  Last week I had a gastroscopy and colonoscopy.   The prep for that was brutal!  Thankfully those tests came back clear as well.

When you’re cleared of cancer once again it’s almost a euphoric feeling.  It’s hard to describe the constant underlying anxiety of having a gene mutation that increases your risk of cancer.  At times I wonder if I’m a hypochondriac or overthinking this, but my doctors reassure me that my paranoia is justified.  The main reason I decided to have prophylactic surgery to remove my breasts and ovaries, was to reduce my risk of cancer and to avoid these stressful and painful screening tests. My risk for ovarian and breast cancer is now less than the general population. 

My Father’s Pancreatic Cancer

Watching my dad die of pancreatic cancer was soul destroying.  He had been unwell for years, mostly due to prostate cancer.  He needed an indwelling catheter to drain his bladder but it kept getting blocked with blood clots.  This lead to frequent hospital admissions and very poor quality of life. He also had many urinary tract infections.  During one of those hospital stays he had a CT Scan which showed his pancreatic cancer,  quite by chance.

Dad’s health declined rapidly and he lost a lot of weight as the pancreatic cancer wrecked havoc with his appetite.  His oral fluid intake was restricted because his sodium level was dangerously low.   This meant he couldn’t enjoy two of his favourite things, food and alcohol.

During his final hospital stay he was hallucinating because of the low sodium. His hands were swollen and painful because he couldn’t take his gout medication.   He was praying constantly that God would end his suffering.  To see my strong dad in this way was heartbreaking.   It took just seven months for pancreatic cancer to take him.

Dealing With The Emotional Side of Cancer Screening

My fear of getting pancreatic cancer is justified because it’s hard to diagnose in the early stages  and has one of the highest mortality rates.  Being aware of this means I will do the screening, no matter how much I hate it.  During the long, sleepless night before the colonoscopy I cried for my dad.  It’s so unfair that this genetic mutation has ripped my family apart.

My way of dealing with days when I feel upset or depressed, is by keeping focused on maintaining my health.  I keep searching for information about BRCA gene mutations because there are currently many research studies being done worldwide.  The knowledge I gain will help me to stay as healthy as possible and hopefully minimise my risk of cancer.  Take a look at my resource page as I have included links to many of these sources.

My next episode will focus on prostate cancer and its link to BRCA gene mutations. As I have mentioned already, my father was a BRCA gene mutation carrier who had prostate cancer as well as pancreatic cancer. My grandfather passed away from prostate cancer and my brother was diagnosed with Stage 4 Prostate Cancer last year. During my nursing career I have worked in urology wards and have cared for many men with prostate cancer. I look forward to sharing this information in my next episode.

Outro

Do you want to learn more about BRCA gene mutations and cancer awareness?  Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle.  Please subscribe to the podcast so that you don’t miss an episode.  If there is a topic you would like me to talk about you can contact me via Midlifestylist.com.  Thank you for listening.  

Shared on Weekend Coffee Share on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s blog

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Update on Resilience, My Word of the Year

Update on Resilience - My Word of the Year

Improving my Resilience is My Goal for the Year

My word of the year is resilience.  I thought I would update my readers on how my goal of improving my resilience is going.  Resilience means to keep trying despite setbacks, to never give up.  I chose this as my word of the year to inspire me even when I feel like giving up.  

One Year After Being Diagnosed with BRCA2 Genetic Mutation

It is one year since I was diagnosed with BRCA2, a genetic mutation that increases your risk of cancer.  Since I was diagnosed with BRCA2 my life has been altered dramatically.  A year ago I was a productive member of society with a job, and pretty good health.  As soon as I got that diagnosis I knew that I wanted prophylactic surgery.  There was no doubt in my mind.  I have looked after patients with ovarian and breast cancer my entire career and I always had in the back of my mind that I would take any steps to avoid either of them.

What is BRCA2?

Because BRCA2 increases your risk of cancer by so much, and if you do get cancer it’s usually the most aggressive kind, the best treatment is to avoid it.  I had been screening yearly for 10 years leading up to this, and there’s almost a feeling of inevitability about it.  You’re waiting for them to tell you that one of the areas they’ve been watching has become cancerous.  So there was really no decision to make – I was going to have prophylactic surgery.

BRCA2 Mutation Cancer Risk infographic.  For women, the cancer risk is 40-84% of developing breast cancer, 11-27% ovarian cancer and 2-7% pancreatic cancer.  Source: Ovarcome
BRCA2 Mutation Cancer Risk infographic. For women, the cancer risk is 40-84% of developing breast cancer, 11-27% ovarian cancer and 2-7% pancreatic cancer. Source: Ovarcome

I expected both surgeries to go well.  You never consider that there could be complications, the only thing on your mind is getting rid of the offending organs that could give you cancer.  First cab off the rank was my ovaries – a relatively low risk, minimally invasive operation because I had already had a hysterectomy.

Suffering Surgical Complications 

The complication from this relatively small, keyhole operation is rare, but has changed my life.  I went into bladder retention – my bladder was stretched beyond capacity and has not sprung back into shape.  I have an atonic bladder now – it doesn’t work.  It’s probably permanent because the nerves were damaged and the muscle fibres stretched beyond their limits.  Even corrective surgery by a urologist hasn’t made any difference.

There is one positive – because I’m a nurse I can self cathetarise so I don’t need an indwelling catheter.  To be able to pass urine I need to insert a cathetar.  I get really upset about this because at 54 years old, I don’t want to think my bladder is completely stuffed.  But the reality is that it IS stuffed.

More Surgical Complications Post Mastectomies

The complication after the bilateral mastectomies was also rare.  This was another life-changing complication that I’m still dealing with.  I haemorrhaged on the left side post-operatively.  My blood count dropped really low and I needed several blood transfusions and emergency surgery to locate the bleeding area.  The swelling remained for months afterwards.  I needed even more surgery to wash out the cavity and treat  the area for infection.

Lifetime BRCA1 and BRCA2 Cancer Risks for Men.  Many people do not realise that BRCA1 and 2 affects men as well.  Prostate cancer runs in my family with my grandfather, father and brother having it.  Dad also had pancreatic cancer.  Melanoma also runs in my family - brother, sister and son.  Source:  Basser Research Centre for BRCA
Lifetime BRCA1 and BRCA2 Cancer Risks for Men. Many people do not realise that BRCA1 and 2 affects men as well. Prostate cancer runs in my family with my grandfather, father and brother having it. Dad also had pancreatic cancer. Melanoma also runs in my family – brother, sister and son. Source: Basser Research Centre for BRCA

The Physical and Mental Affects of a Prolonged Recovery

My recovery has been prolonged because I wasn’t allowed to do any exercise apart from walking until the swelling subsided.  That meant six months without using my upper body for anything more strenuous than lifting a cup.  When I was finally allowed to do yoga, my muscles went into spasm and I was in severe agony.

I knew that I wouldn’t be able to improve my upper body strength without professional help.  My GP was very understanding and supportive and has much more insight into patients returning to work after injury or surgery.  He referred me to an exercise physiologist to build up my physical strength.  Because I was struggling with the emotional fall-out from all of this, he referred me to a psychologist as well.

Improving Mentally and Physically

It’s approximately 3 months since then.  Emotionally and mentally I’m so much stronger.  My psychologist helps me to look at things from a different point of view, and has given me strategies to deal with the grief and stress.  She doesn’t pat me on the hand and tell me it’s going to be alright.  I need more than that.  I need to work through the emotions that have come up from these surgical complications.

Physically, it’s been a hard slog.  The exercise physiologist can’t increase my exercises too quickly because it can result in severe muscle pain.  I do an hour long program that she gives me, three times a week.  I see her once a week to ensure I’m doing the exercises with the correct technique, and to learn new exercises.

The ultimate goal other than improving my resilience, is to return to work.  My boss has offered to reduce my hours to two shifts a week which will at least enable me to return to my job.  She has been incredibly supportive throughout the whole ordeal.  I couldn’t wish for a better boss.  If I continue to improve at my current rate, I will return to work in April.

Lack of Understanding From My Surgeon

Today I had a post operative visit with my breast surgeon.  There is always a little bit of anxiety leading up to these appointments because I’ve had so many occasions where I felt really upset.  Usually his first question is  “Are you back at work yet?”.  Despite me explaining that my employer won’t let me go back until I am back to 100% capacity and able to do CPR and heavy manual handling, he never understood.   I always felt like he was judging me for it – as if I didn’t want to work.  He even asked me straight out a few times if I wanted to work.  

Not once has he ever taken the blame for what happened to me.  In his opinion, my post-op haemorrhage couldn’t possibly be his fault.  He tried to shift the blame, even sent me to see a haematologist to find out if I had a bleeding disorder.  

Post-operative Complications Can and Do Happen

As a nurse, I know that post-op complications can happen.  When they consent you for any procedure large or small, part of the consent process is to discuss the complications that may happen.  I’ve only seen a haemorrhage after breast surgery once in my career and it was as dramatic as mine.  

I’ve been unlucky to suffer a few complications post surgery previously so I have a better understanding than most people.  That is why I’ve never blamed the haemorrhage on my surgeon.  But the fact that he tries to shift the blame to me has worn thin.  I’m not contemplating getting compensation for this, or suing him, but a lot of people would. 

The Cost of a Prolonged Recovery 

This has cost me a massive amount of money in lost wages and medical expenses and I’m just lucky I had income protection insurance through my superannuation fund.  I don’t live my life with regrets usually but there have been times when I’m really depressed because of the way my life has changed in the last year.  

BRCA and cancer - BRCA1 and 2 increase the risk of cancer for both men and women.  Source: Penn Medicine's Basser Research Centre for BRCA
BRCA and cancer – BRCA1 and 2 increase the risk of cancer for both men and women. Source: Penn Medicine’s Basser Research Centre for BRCA

Even though the last year has been difficult, and my quality of life has changed, I’m still able to be positive about the future.  I wasn’t willing to accept that I would not be able to work again.  At times I have wondered why I try so hard.  Then I count my blessings.  My parents both died of cancer, and it looks like my brother will too (he has advanced prostate cancer).  I have beaten cancer and don’t have that hanging over my head.

Being Resilient and Looking to the Future

Even when things seemed hopeless, I still had the power to change direction.  I wasn’t willing to let fate decide that I would never be well enough to work again.  I sought help.  And I continue to work hard to get back to the person I was, changed in many ways but the old me.  That’s what resilience has meant to me in the last year.

If you would like more information on BRCA genetic mutation and cancer risk, these are the other posts I have written:

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s blog, Life This Week Linkup on Denyse Whelan’s blog and Senior Salon Linkup on Esme Salon’s blog

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