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Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk?

https://www.facingourrisk.org/XRAY/rare-mutations-and-cancer-risk
Full article: http://jmg.bmj.com/content/early/2016/09/02/jmedgenet-2016-103839.short?rss=1

As multi-gene panel tests become more common, people are discovering they have mutations in genes that are not understood as well as BRCA. This can make it difficult to give patients accurate assessments of their cancer risk. For example, mutations in PALB2, CHEK2, and ATM are rare, but some specific changes in these genes are even less common. The goal of this international collaboration was to better understand the cancer risks of some very rare PALB2, CHEK2, and ATM mutations. The findings are relevant only to the specific mutations covered in this paper and do not apply to all people with mutations in PALB2, CHEK2, or ATM. (9/27/16)

Expert Guidelines

The National Comprehensive Cancer Network (NCCN) brings together a panel of experts to  create guidelines for genetic testing for inherited mutations that increase cancer risk. NCCN Guidelines for women with mutations in PALB2, NBN, BRIP1 and other genes include the following:

Breast Cancer Screening: 

Breast Cancer Risk Management

It is important for people with mutations in these genes to consult with a genetics expert to determine the best risk management plan based on their personal and family medical history and other circumstances. 

Questions To Ask Your Health Care Provider

Open Clinical Trials

About FORCE

FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.