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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Guide to The Regular Health Checks You Should Be Having

Guide to the Regular Health Checks You Should Be Having

Health Checks Ensure You Stay Healthy

Introduction

Regular health checks ensure you stay fit and healthy.  Many health problems are not apparent without health checks.  Regular checks you do yourself keep you in tune with your body.  A medical practitioner must also perform some checks.  This article will explain why it is important to have regular health checks, including several you can do yourself.  It also includes a recommended schedule for health checks that your doctor will do.

The advantages of a regular health check-up

The most important reason to have regular health check-ups is the early detection of diseases such as heart disease and cancer.  Treatment is much more successful if caught at an early stage, before complications have set in.  Many life threatening diseases have little to no symptoms.  For example, kidney failure.  Other health issues may have symptoms that are vague or mistaken for other conditions.  Symptoms such as fatigue can relate to many different causes. Vague symptoms are often explained by lifestyle factors such as being busy. Without regular checkups a health issue can be overlooked until you develop a serious illness.

My Back Pain Masked a Serious Health Condition

I have a chronic degenerative spinal condition which is very common in nurses.  CT scans and bone scans show degeneration in the fascia joints in my spine.  When my back pain intensified, my doctor prescribed a cortisone injection under CT guidance.  This successfully treated the pain, so I had them regularly with improvement in my pain.

When I developed severe back pain on the opposite side of the degeneration my GP prescribed stronger pain killers.  I suffered for over two years, believing the pain was caused by degeneration. I did not really understanding why my pain was on the opposite side.  It wasn’t until I developed complications after surgery this year that it was found that I had hydronephrosis.  The back pain was actually caused by a blockage which caused the urine to reflux back into my kidney.  

This would have led to serious kidney problems if it hadn’t been detected as an incidental finding.  I’m a Registered Nurse and I hadn’t even suspected my back pain was kidney related.  This is one example of how serious health issues can be overlooked, especially if they can be tied in with existing, known health issues.

The Regular Health Checks You Should Be Having - infographic
The Regular Health Checks You Should Be Having

The health checks you can do yourself

You can do many health checks yourself.  If you find anything concerning, you can then see a doctor.  Get to know your own body by doing these regular health checks:

Skin – Regularly check your skin, taking note of any moles, freckles and skin blemishes.  A doctor, preferably at a specialised skin cancer clinic, should assess any changes.  The doctors at skin cancer clinics are experienced in assessing skin. They use specialised equipment designed to detect early skin changes. Early changes that might indicate skin cancer can be treated before they develop further.

Weight – check once per week.  It is a good idea to keep an eye on your waist circumference as well.  Any waist measurement over 88cm (35 inches) for women and 102cm (40 inches) for men may mean you are at high risk of diabetes and cardiovascular disease.  See my article Why Your Waist Measurement Matters for more information.

Dental – Dentists should examine any lesions and bleeding that don’t resolve in a week.  Clean teeth at least daily and use floss as your oral health is vital for overall well-being.  Have a regular checkup and clean by a dentist at least yearly.

Mental and emotional health – seek medical help if you have symptoms of anxiety, intense sadness, fatigue, insomnia or changes in appetite that don’t resolve after a month or two.

In addition to the above, women need to do monthly breast self examinations.  See my article How to Perform a Breast Self Examination (and Why) for a complete guide.   Men need to perform a testicular self examination monthly from puberty onwards.  See your doctor if there is any unusual thickening or lumps.

The health checks your doctor will do

Have a regular check-up with your doctor every two years.  Be aware of your family health history as it may mean you need screening more often – see my article Know Your Personal and Family Health History for more information.  Your doctor should be able to tell you if you are at high risk for certain diseases.  Additional screening to the following may be recommended.

The recommended health checks for both men and women:

Skin checks:  Yearly

Heart health – blood pressure every two years from age 40, more often if you have a family history of high blood pressure, stroke or heart disease.  You should also have your blood tested to check for high cholesterol and triglycerides every 5 years from age 45, more often if high risk.  If you are high risk you may also have an ECG (electrocardiogram) or cardiac echo, which are both non-invasive checks.  A one-off test is offered at age 45-49 to screen for high risk of heart disease.

Bowel screening every two years from age 50. (A bowel screen kit will be sent to your home if you are an Australian resident)

Sexual health – yearly if sexually active.  See your doctor immediately if you have pain, discharge, lesions or if you have unprotected sex.

Eye tests for glaucoma and macular degeneration – every two years after age 40s if you have a family history.  From age 65 if you notice vision deterioration.

Bone density from the age of 45 (women) or 50 (men) if at risk for example, a family history of osteoporosis.

Diabetes – A fasting blood sugar test.  A one-off test is offered at age 45-49 to screen for high risk of type 2 diabetes.  Those at high risk of Type 2 Diabetes should be checked 1-3 yearly. 3 yearly for people not at risk, from the age of 40.  Aboriginal and Torres Strait Islanders should start 3 yearly checks from age 18.  

Hearing Impairment – a hearing assessment yearly after age 65.

Kidney disease – every 1-2 years if at high risk.

Immunity – Flu shots (Influenza vaccinations) yearly after age 65.  If you are high risk or work in the health care industry you should also have Influenza and Hepatitis B vaccinations.

Health Checks for Women

In addition to the above health checks, women should have:

Cervical screening every 5 years from the time you are sexually active.  The cervical screening Test has replaced the Pap Smear. It should be started at age 25 or two years after your last Pap Smear.

Breast screening every 2 years from age 50-74.  If you are high risk you will be offered screening from a younger age and more frequently.  For example, I have been having yearly mammograms and ultrasounds plus MRIs every 2 years because of my high risk.  Some women have them more frequently than that, depending on your doctor’s preference.

Health Checks for Men

In addition to the above health checks, men should have:

Prostate – Annual prostate checks from age 50, earlier if you have a family history.  This involves a blood test (PSA), and may include a digital rectal examination.  See your doctor if you have trouble urinating, pain, blood in your urine, night-time urination frequently, or incontinence.

Women's Health Checks - The recommendations for Breast checks, and cervical screening.  Men's Health Checks - The recommendations for  Testicular and Prostate checks
Women’s and Men’s Health Checks

Be an Advocate for your own Health

You are the best advocate for your own health.  If you suspect you have a health issue, see your doctor.  If you are unhappy with the outcome, seek another opinion.  You know your own body.  Keep track of the symptoms, write them down, and identify any patterns.  If you are unsure of whether you should see a doctor, refer to my article Signs You Need to See a Doctor.  

Let your doctor know of any family history of disease.  Keep track of your personal and family health history – see this article for more information.  Most important, keep up with your health screening and the regular health checks you should be having.

Please note:  I am a Registered Nurse of 30 years but I am unable to give specific medical advice.  If you are concerned please see your GP.  Screening schedules may differ depending on where you live.  The schedule recommended here is for guidance only.  This post is for general informational and educational purposes only.  Please refer to the disclaimer.

Further reading: While researching this article, I found the most thorough information at the following websites:

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