Changes in Other Genes

CURE, Spring 2013, Volume 12, Issue 1

Other gene mutations, besides BRCA, can also lead to inherited breast cancers.

Other gene mutations can also lead to inherited breast cancers. These gene mutations are much rarer and often do not increase the risk of breast cancer as much as the BRCA genes. They are not frequent causes of inherited breast cancer.

ATM

The ATM gene normally helps repair damaged DNA. Inheriting two abnormal copies of this gene causes the disease ataxia-telangiectasia. Inheriting one mutated copy of this gene has been linked to a high rate of breast cancer in some families.

TP53

The TP53 gene gives instructions for making a protein called p53 that helps stop the growth of abnormal cells. Inherited mutations of this gene cause Li-Fraumeni syndrome (named after the two researchers who first described it). People with this syndrome have an increased risk of developing breast cancer, as well as several other cancers such as leukemia, brain tumors and sarcomas. This is a rare cause of breast cancer.

CHEK2

The Li-Fraumeni syndrome can also be caused by inherited mutations in the CHEK2 gene. Even when it does not cause this syndrome, it can increase breast cancer risk about two-fold when it is mutated.

PTEN

The PTEN gene normally helps regulate cell growth. Inherited mutations in this gene can cause Cowden syndrome, a rare disorder in which people are at increased risk for both benign and malignant breast tumors, as well as growths in the digestive tract, thyroid, uterus and ovaries. Defects in this gene can also cause a different syndrome called Bannayan-Riley-Ruvalcaba syndrome that is not thought to be linked to breast cancer.

CDH1

Inherited mutations in this gene cause hereditary diffuse gastric cancer, a syndrome in which people develop a rare type of stomach cancer at an early age. Women with mutations in this gene also have an increased risk of invasive lobular breast cancer.

STK11

Defects in this gene can lead to Peutz-Jeghers syndrome. People with this disorder develop pigmented spots on their lips and in their mouths, polyps in the urinary and gastrointestinal tracts, and have an increased risk of many types of cancer, including breast cancer.

Reprinted by the permission of the American Cancer Society, Inc. from www.cancer.org. All rights reserved.