PALB2-Associated Cancer

PALB2-Associated Cancer

Article
Digestive Health
Men's Health
+4
Contributed byKrish Tangella MD, MBANov 26, 2023

What are other Names for this Condition? (Also known as/Synonyms)

  • Cancers Associated with the PALB2 Gene

What is PALB2-Associated Cancer? (Definition/Background Information)

  • PALB2-Associated Cancers are caused by germline mutations in the PALB2 gene. The PALB2 gene is a partner gene of the BRCA2 gene, which can increase one’s risk for breast and other cancers. The main PALB2-Associated Cancers are breast, pancreatic, and ovarian cancers
  • The function of the PALB2 gene is to provide instructions to make a protein that works in association with the BRCA2 protein. These proteins repair damaged DNA and suppress tumor growth
  • Overall, women with abnormal PALB2 genes are nearly 9.5 times more likely to develop breast cancer than the average individual. PALB2-Associated Cancer may also be associated with Fanconi anemia, a condition known to suppress bone marrow function
  • PALB2-Associated Cancer is inherited as a monoallelic germline mutation in the gene. Having a family history of the condition has been shown to increase the risk for developing cancers 
  • The main signs and symptoms of PALB2-Associated Cancer are related to the type of malignancy that develops that may involve the breast, pancreas, or ovary. The condition can be diagnosed with standard gene sequence testing
  • A treatment of PALB2-Associated Cancer is undertaken in case of cancer development. This may involve surgery and other modalities, such as radiation therapy and chemotherapy. The overall outcomes depends on the type and severity of the associated cancer

Who gets PALB2-Associated Cancer? (Age and Sex Distribution)

  • PALB2-Associated Cancer is relatively rare in the general population. PALB2 mutations have been identified in 1-5% of all familial breast cancer patients
  • Middle-aged and older adults are at risk for developing cancers owing to PALB2 gene mutations
  • It appears to be more common in females than males
  • There does not appear to be any racial, ethnic, or geographic disparity in the occurrence of PALB2-Associated Cancer

What are the Risk Factors for PALB2-Associated Cancer? (Predisposing Factors)

The following risk factors are noted in individuals with PALB2-Associated Cancer: 

  • Having a personal history of breast cancer without an identifiable mutation in the BRCA1/BRCA2 genes
  • Positive family history of cancer
  • Fanconi anemia
  • Exposure to certain carcinogens including tobacco smoke or radiation exposure

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of PALB2-Associated Cancer? (Etiology)

  • PALB2-Associated Cancer is inherited as a monoallelic germline mutation in the gene. The gene is located on chromosome 16. Mutations in the PALB2 gene can cause uncontrolled cell growth
  • The PALB2 gene functions to provide instructions on how to make a protein that works in association with the BRCA2 protein. Together, these proteins repair damaged DNA and suppress tumor growth
  • Women with an abnormal PALB2 gene have a 14% risk of developing breast cancer by the age of 50 and 35% risk by the age of 70

What are the Signs and Symptoms of PALB2-Associated Cancer?

The following are the possible signs and symptoms associated with PALB2-Associated Breast Cancer:

  • Thickening of part of the breast
  • New areas of fullness in the breast
  • Change in texture or appearance of the breast such as dimpling or thickening 
  • Inverted nipple
  • Bleeding from nipple
  • Pain in the breast

The following are the possible signs and symptoms associated with PALB2-Associated Pancreatic Cancer:

  • Loss of appetite
  • Jaundice
  • Dark urine
  • Pain in the abdomen
  • Fluid in abdomen
  • Formation of blood clots
  • Weight loss

The following are the possible signs and symptoms associated with PALB2-Associated Ovarian Cancer:

  • Abdominal/pelvic pain
  • Presence of a pelvic mass
  • Fluid in the abdomen
  • Changes in bowel movement
  • Weight loss
  • Abnormal menstrual bleeding

How is PALB2-Associated Cancer Diagnosed?

The following can be used to diagnose PALB2-Associated Breast Cancer:

  • Complete physical exam, including breast exam, and evaluation of family medical history
  • Mammogram
  • Blood tests, as suitable
  • Breast ultrasound
  • CT and MRI scan 
  • Breast biopsy
  • Bone scan

The following methods are commonly used to diagnose PALB2-Associated Pancreatic Cancer: 

  • Complete physical exam and evaluation of family medical history
  • CT and MRI scan of the pancreas
  • MR cholangiopancreatography (MRCP)
  • Endoscopic ultrasound (EUS)
  • Endoscopic retrograde cholangiopancreatography (ERCP)
  • Tissue biopsy
  • Somatostatin receptor scintigraphy (SRS)

The following methods are used to diagnose PALB2-Associated Ovarian Cancer:

  • Complete physical exam, including pelvic exam, and evaluation of family medical history
  • Blood tests, as needed
  • Ultrasound scan of the abdomen
  • CT and MRI scan of the region
  • Barium enema X-ray
  • Exploratory laparoscopy
  • Tissue biopsy studies

Genetic testing may also be used to help diagnose PALB2-Associated Cancer.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the Possible Complications of PALB2-Associated Cancer?

Individuals with PALB2-Associated Cancer who develop cancer may experience the following complications:

  • Depression
  • Secondary cancers (pancreatic cancer notably)
  • Malignancy of the cancer - invasion and spread of cancer to other body regions
  • Increased sensitivity to radiation and external carcinogens
  • Fanconi anemia
  • Various treatment related complications

How is PALB2-Associated Cancer Treated?

The following measures may be taken to treat PALB2-Associated Cancers:

  • Surgery:
    • For breast cancer - surgical removal of the tumor such as via mastectomy
    • For pancreatic cancer - pancreatoduodenectomy, which is a surgical procedure that involves the removal of part of the pancreas, part of the small intestine, and the gallbladder
    • For ovarian cancer - surgical removal of the tumor mass or salpingo-oophorectomy may be considered
  • Hormone therapy
  • Chemotherapy
  • Radiation therapy
  • Targeted drug therapy

How can PALB2-Associated Cancer be Prevented?

It is not possible to completely prevent PALB2-Associated Breast Cancer because it is a hereditary condition.

  • However, one can take certain preemptive measures to be on the lookout for the development of PALB2-Associated Cancer including, self-breast examinations, annual MRIs, and screening mammograms
  • In certain cases, mastectomy may be an option to prevent the development of tumors into the future
  • In general, it is also important to maintain a healthy lifestyle and take measures to prevent unnecessary exposure to environmental carcinogens
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child

What is the Prognosis of PALB2-Associated Cancer? (Outcomes/Resolutions)

The prognosis of individuals with PALB2-Associated Cancer may vary from one to another. 

  • Individuals are at a higher risk of developing secondary cancers, specifically pancreatic cancer. Therefore, it is important to be screening for cancers early on. If the development of breast cancer is caught early, the prognosis is typically favorable
  • Currently, new and improved treatments are helping to increase the longevity of individuals with breast cancer. Nevertheless, cancer recurrence or spread/metastasize to other areas of the body even with proper treatment may take place
  • In general, the following factors are used to determine each individual’s prognosis:
    • Type of cancer
    • Staging of the cancer
    • Location and size of the tumor
    • In case of breast cancer - hormone-receptor status and presence of tumor indicators such as HER2 proteins (growth-promoting proteins)
    • Cell growth rate
    • Likelihood of cancer returning
    • Age of the individual
    • Menopausal status (in women)

Additional and Relevant Useful Information for PALB2-Associated Cancer:

It is estimated that 1 in 8 women will be diagnosed with Breast Cancer during their lifetime. This means that approximately 220,000 women (in the US) will be diagnosed with the disease and fatalities may be around 40,000.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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