Pancreatic Cancer – Genetics and Hereditary Risk Factors

Pancreatic Cancer – Genetics and Hereditary Risk Factors

The pancreas is responsible for releasing enzymes that break down food molecules into simpler substances and producing hormones that regulate blood sugar levels and appetite. Pancreatic cancer leaves the organ unable to perform these functions, leading to abdominal pain and unintended weight loss.
Pancreatic cancer has several causes, but about 10% of all cases result from hereditary factors. One may inherit certain genetic mutations that can cause pancreatic cancer from their parents.

1. How is pancreatic cancer hereditary?
Cancers are caused due to mutations in the DNA, which contains genes and is present in each of the body’s cells. These genes carry specific information for cells, and DNA mutations affect this information and cause the cells to malfunction.
The mutations can occur due to several factors that one encounters during their lifetime in the case of an acquired mutation. Alternatively, they can be passed from one generation to the next in the case of a germline mutation. Pancreatic cancer can occur due to these mutations.

2. Inherited genetic syndromes linked with pancreatic cancer
Pancreatic cancer can also develop due to certain genetic syndromes, including:

  • Ataxia telangiectasia
    This is an autosomal disease caused by inherited mutations in the ATM gene that adversely affects the functioning of the immune and nervous systems. People with the disorder find it difficult to walk and usually require wheelchair assistance.
  • Familial pancreatitis
    Mutations in the PRSS1 gene cause this rare genetic disorder, and people with this disorder usually experience pancreatic attacks and symptoms like abdominal pain, nausea, and vomiting.
  • Familial atypical multiple mole melanoma syndrome
    This condition is marked by the presence of multiple moles and an increased risk of developing pancreatic cancer. A family history of melanoma is a risk factor for this syndrome, which stems from mutations in the p16/CDKN2A gene.
  • Hereditary breast and ovarian cancer syndrome
    Mutations in the BRCA1 or BRCA2 gene cause most cases of this condition. Individuals with these genetic mutations are at a higher risk of developing pancreatic cancer.
  • Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    Lynch syndrome stems from defective MLH1 or MSH2 genes. It increases the risk of various types of cancers, including pancreatic cancer.
  • Multiple endocrine neoplasia type 1
    This disorder is also called Wermer’s syndrome and is caused by a faulty MEN1 gene. It promotes tumor development in the pituitary gland and the pancreas, and patients may experience symptoms ranging from stomach ulcers and abdominal pain to dizziness and anxiety.
  • Neurofibromatosis type 1
    Also known as von Recklinghausen’s disease, this condition with neurological symptoms is usually diagnosed during childhood. It is caused due to mutations in the NF1 gene and leads to skin pigmentation and tumor growth in the skin and brain.
  • Peutz-Jeghers syndrome
    Defects in the STK11 gene cause this condition, and patients may develop non-cancerous growths called hamartomatous polyps in the digestive tract. It increases the risk of several types of cancer, including pancreatic cancer.