Other Hereditary Syndromes

ATM is associated with an increased risk for:

• Breast Cancer
• Other Cancers:
  • Pancreatic Cancer
  • Ovarian Cancer

Breast cancer is the most common cancer diagnosed with in people with an ATM pathogenic variant, and are thought to develop breast cancer earlier in life and bilateral cancer. However, the exact breast cancer risk, and whether or not there is any other cancer risk, associated with the ATM has not been determined. Research in this area is ongoing and our understanding may change in the future. It is important for people to keep in contact with their doctors and genetics providers for updates in this area. 

To learn more about risk management, please check with your provider.

CDKN2 a is associated with an increased risk for:

• Melanoma
• Pancreatic Cancer

Individuals with a CDKN2 pathogenic variant tend to develop tend to develop melanomas at a young age (before the age of 50), and may develop two or more melanomas in their lifetime. People with an inherited CDKN2A pathongenic variant can talk to their healthcare provider about family planning considerations. 

To learn more about risk management, please check with your provider.

CHEK2 is associated with an increased risk for:

• Breast Cancer
• Colorectal Cancer

CHEK2 may be associated with an increased risk for prostate and other cancers, but more research is needed to confirm. Research in this area is ongoing and our understanding of the implications of carrying a CHEK2 pathogenic variant may change in the future. It is important for patients to keep in contact with their doctors and genetics providers for updates in this area. 

To learn more about risk management, please check with your provider.

Cowden Syndrome is associated with an increased risk for:

• Breast Cancer
• Endometrial Cancer
• Kidney Cancer
• Thyroid Cancer
• Colorectal Cancer

Individuals with Cowden Syndrome tend to develop tend to develop cancer earlier in life.

PTEN is the most common gene to be associated with Cowden Syndrome.

To learn more about risk management, please check with your provider.

Hereditary Diffuse Gastric Cancer is associated with an increased risk for:

• Diffuse Gastric (stomach) Cancer
• Breast Cancer

The majority of the cancers in individuals with HDGC pathogenic variants occur before the age of 40. CDH1 is the only gene known to be associated with HDGC. 30-50% of HDGC is caused by pathogenic variants in thh CDH1 gene.  

To learn more about HDGC, check out No Stomach for Cancer.

To learn more about risk management, please check with your provider.

Li-Fraumeni Syndrome is associated with an increased risk for:

• Breast Cancer
• Sarcomas
• Colorectal Cancer
• Brain Cancer
• Pancreatic Cancer 

The risks for cancer begin at a very young age, including in children and young adults.

For more resources and support on Li-Fraumeni Syndrome, check out Li Fraumeni Syndrome Association, Living LFS, and The George Pantziarka TP53 Trust . 

TP53 is the most common gene to be associated with Li-Fraumeni Syndrome.

To learn more about risk management, please check with your provider.

Lynch Syndrome is associated with an increased risk for:

• Colorectal Cancer
• Uterine Cancer
• Other Cancers (risk less than 10%)
  • Ovarian Cancer
  • Stomach Cancer
  • Small Intestine Cancer
  • Urinary Tract Cancer
  • Hepatobiliary Tract Cancer
  • Skin Cancer
  • Brain Cancer

The risks for cancer begin at a very young age, including in children and young adults.

Colorectal and uterine cancers are the most common cancers diagnosed in people with Lynch Syndrome. Individuals with Lynch Syndrome tend to develop cancers earlier in life. 

To learn more about Lynch Syndrome, visit the UCSF Lynch Syndrome Website 

To learn more about risk management for Lynch Syndrome, visit our UCSF Lynch Syndrome Risk Management page and check with your provider

NTHL1 is associated with an increased risk for Extracolonic Cancer. 

To learn more, check out: Kuiper et. al: NTHL1 Tumor Syndrome (2020)

PALPB2 is associated with an increased risk for:

• Breast Cancer 
• Ovarian Cancer
• Pancreatic Cancer

To learn more about risk management, please check with your provider.

Peutz-Jegher Syndrome is associated with an increased risk for:

• Breast Cancer
• Colorectal Cancer
• Pancreatic Cancer 
• Stomach Cancer
• Small Intestine Cancer
• Endometrial Cancer
• Cervical Cancer
• Lung Cancer

STK11 pathogenic variant causes Peutz-Jegher syndrome. An inherited STK11 mutation can increase the risk for cancer at a very young age, including in children and young adults. People with STK11 mutations can develop other medical conditions. People with an inherited STK11 pathogenic variant can talk to their healthcare provider about family planning considerations. 

To learn more about risk management, please check with your provider.

RAD51C and RAD51D are associated with an increased risk for:

• Breast Cancer
• Ovarian Cancer

Whether or not there is any other cancer risk associated with the RAD51C or RAD51D pathogenic variants has not been determined. Research in this area is ongoing. It is important for patients to keep in contact with their doctors and genetics providers for updates in this area. 

To learn more about risk management with a RAD51C or RAD51D pathogenic variant, please check with your provider.