Predisposed To Pancreas Cancer Due To Inherited Gene Mutations

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Inherited Gene Mutations That Could Predispose People To Getting Pancreatic Cancer

Written By Tony Subia
June 2020

Many Inherited Gene Mutations Have A Link To Pancreatic Cancer

Cancer is caused by genetic mutations which are alterations or errors in the DNA of our cells. Gene mutations can be inherited or acquired as people age. Inherited gene mutations can play a role in up to 15% of pancreatic cancers. There are several inherited genetic mutations generally associated with other types of cancers that can lead to risk of pancreatic cancer at higher or lower rates of risk depending upon gene mutation types. Having a family history of pancreatic cancer can dramatically increase that risk.

Always be aware of any family history of cancer. An inherited gene mutation could increase the risk of not only Pancreatic Ductal Adenocarcinoma Cancer (PDAC), but other types of cancer as well. Studies recommend that all pancreatic patients and those with a family history of any cancer consult with a genetic counselor and undergo genetic testing to determine if an inherited gene mutation exists and what type it may be.

A positive genetic test should suggest implementing a surveillance strategy that could include cancer screening in high risk candidates that would expose any predisposed risk to pancreatic cancer as well as other types of cancers. Have an in depth discussion with your doctor to make sure he or she is aware of your heightened risk of cancer. It is important to note that having a gene mutation threat, whether it is inherited or acquired during your lifetime does not mean you will get pancreatic cancer, but your risk is increased versus the general population.

Inherited Gene Mutations and Disorders That Could Place You At Risk

Do not assume that pancreatic cancer only strikes older people. It can strike any one at any time. Notice how some of the genetic mutations increase risk at a very young age.

> BRCA1 or BRCA2 Genes. Usually associated with ovarian or breast cancer, the BRCA2 gene mutation can increase pancreatic cancer risk 3 to 10-fold versus the general population. There is about a 10% lifetime risk of developing pancreatic cancer. Most studies show the BRCA1 mutation only causes a slight risk.

> FAMM Familial Atypical Multiple Melanoma Syndrome caused by mutations in the p16/CDKN2A Gene. This gene mutation is associated with younger age of multiple primary melanomas. Predisposition is estimated at a 13 to 22-fold increased risk of getting pancreatic cancer versus the general population.

> Peutz-Jeghers Syndrome is caused by abnormalities in the STK11 Gene. It is characterized by polyps in the small intestine. Signs often include having pigmented spots on the nose and/or lips. Some studies show having Puetz-Jeghers Syndrome can increase risk up to 30% of getting pancreatic cancer versus the general population.

> Lynch Syndrome caused by by mutations in the MLH1 or MSH2 Genes. It is also known as Hereditary Non-Polyposis Colon Cancer (HNPCC). It can have an increase risk of developing colorectal cancer and pancreatic cancer at young ages. Having Lynch Syndrome can increase risk of pancreatic cancer by 18 times the general population rates. Read the Steve Burdge Story

> PALB2 Gene Mutations is generally associated with an increased risk of breast cancer in females although it can have a small risk of male breast cancer. Both men and women that carry the PALB2 Mutation also have increased risk of developing pancreatic cancer. The risk is magnified where there is a family history of pancreatic cancer. Read the Elizabeth O’Connor Story

> Li-Fraumini Syndrome linked to several gene mutations, most commonly a mutation in the TP53 Gene increases the risk of several types of cancer even at young ages including childhood. It is most often associated with female breast cancer with a high degree of risk. It also increase risk of pancreatic cancer.

> Familial Adenomatous Polyposis, FAP Gene. Primarily related to colorectal cancer where a person could develop more that 100 colon polyps. Most people will be diagnosed with this gene at an early before the age of 35. It presents a very high risk of colorectal cancer but also can increase the risk of pancreatic cancer as well as stomach and intestinal cancer.

> Hereditary Pancreatitis. It can lead to multiple episodes of a severe inflammation of the pancreas. Recurrent episodes leads to “Chronic Pancreatitis”. It is a rarely inherited condition that can have a 40% to 55% lifetime risk getting pancreatic cancer. Acquired chronic pancreatitis is generally caused by heavy alcohol abuse.

> Inherited Cystic Fibrosis. To be born with cystic fibrosis, the infant must inherit one defective CF gene from both parents. Inheriting just one gene would make the infant a carrier, but would never develop CF, but would be at high risk of developing chronic pancreatitis which has about a 50% lifetime risk of getting pancreatic cancer.

Knowledge is Power and Control Over Your Own Healthcare. Reduce Risk. Early Detection Could Save Your Life.


ASCO Journal
Columbia University Medical Center
The Sol Goldman Pancreatic Cancer Research Center
My Support 360 Genetic Testing
HonorHealth Research Institute

Managing The Risks Through Genetic Testing

Disclaimer: Any information provided by the Seena Magowitz Foundation is not intended as a substitute for medical advice regarding diagnosis or treatment. Please consult with your own healthcare providers. This particular page only provides information about inherited genetic mutations that could increase your risk of getting pancreatic cancer and other types of cancer. Read more about reducing the risk of developing pancreatic cancer.

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