What are the genetics underlying 12 different cancer types?
Full article: https://www.nature.com/ncomms/2015/151209/ncomms10086/full/ncomms10086.html
As gene sequencing has become more affordable, researchers and health care providers are now looking for mutations in many genes beyond BRCA1, BRCA2 and others that are associated with known hereditary cancer syndromes. By sequencing thousands of genes rather than just one or two, researchers can better understand which inherited mutations affect cancer risk. In this study, researchers sequenced thousands of genes in patients with one of 12 cancers, including breast, and catalogued which gene mutations are most commonly found in each cancer. (03/01/16)
The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:
- You have a blood relative who has tested positive for an inherited mutation
- You have any of the following:
- Breast cancer at age 50 or younger
- Male breast cancer at any age
- Ovarian cancer at any age
- Triple-negative breast cancer at any age
- Two separate breast cancer diagnoses
- Eastern European Jewish ancestry and breast cancer at any age
- Metastatic breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with hereditary cancer
- HER2-negative breast cancer and high risk for recurrence
- Lobular breast cancer and a family history of diffuse gastric cancer
- You have one or more close family members who have had:
- Young-onset or rare cancers
- Breast cancer at age 50 or younger
- Triple-negative breast cancer
- Male breast cancer, ovarian cancer, pancreatic cancer, or metastatic prostate cancer at any age
- Two separate cancer diagnoses
- Prostate cancer at age 55 or younger or metastatic prostate cancer
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes.
If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert.
The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. The NCCN recommends genetic counseling and testing for anyone diagnosed at any age with epithelial ovarian, fallopian tube or primary peritoneal cancer.
The National Comprehensive Cancer Network has guidelines on which men with prostate cancer should undergo genetic counseling and testing. Men with the following should speak with a genetics expert about genetic testing:
- A tumor test result suggests an inherited mutation (for example, a BRCA1, BRCA2 or ATM mutation in the tumor that may indicate an inherited mutation in one of those genes).
- A blood relative who tested positive for an inherited mutation in a gene linked to prostate cancer.
- Metastic prostate cancer diagnosed at any age.
- Intraductal/cribriform cells found on pathology.
- Cancer that is categorized as very-high- or high-risk based on pathology.
- Also diagnosed with male breast cancer.
- Eastern European (Ashkenazi) Jewish ancestry.
- One or more first-, second-, or third-degree relatives diagnosed with breast cancer at age 50 or younger, or ovarian, pancreatic, male breast cancer, metastatic prostate cancer or intraductal/cribriform prostate cancer at any age.
- two or more close relatives diagnosed with breast or prostate cancer at any age.
Genetic counseling and testing for people diagnosed with colorectal or endometrial cancer
The National Comprehensive Cancer Network has guidelines on which people diagnosed with colorectal or endometrial cancer should undergo genetic counseling and testing. People diagnosed with colorectal cancer who have any of the following should speak with a genetics expert about genetic testing:
- A tumor test result suggesting an inherited mutation (for example, an MSI-H or dMMR tumor).
- A blood relative who tested positive for an inherited mutation linked to cancer.
- Colorectal or endometrial cancer diagnosed before age 50.
- Diagnosed with more than one cancer.
- A family history of one or more first or second degree relatives with any of the following types of cancer diagnosed before age 50 or two or more first or second degree relatives with any of the following cancers diagnosed at any age:
- small bowel
- biliary tract
- brain (usually glioblastoma)
Questions To Ask Your Health Care Provider
- I carry a mutation in (BRIP1, PALB2, ATM, RAD51C, RAD51D, or RAD50) What does this mean for me and my family?
- I have an extensive family history of breast cancer, but my family does not carry a BRCA mutation. Should I consider genetic testing that looks for mutations in other genes?
- I had breast cancer before age 50 but tested negative for a mutation in BRCA. Should I consider genetic testing that looks for mutations in other genes?
Open Clinical Trials
Below are clinical trials that include genetic counseling and testing.
Other genetic counseling or testing studies may be found here.
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.