Breast cancer genetic risk: Is it enough to test BRCA1 and BRCA2 genes only?

Date：2021-12-14

Updated oncology guidelines for Breast, Ovarian, and Pancreatic Cancer Risk Assessment

The National Comprehensive Cancer Network (NCCN) provides oncology guidelines for genetic/ familial high-risk assessment. According to the recently updated guideline (accessed in August 2021), additional genes were recommended to be tested alongside with BRCA1/2.

The risk assessment guidelines before 2020 highlighted BRCA1 and BRCA2 genes as the major risk factors of breast, ovarian, and pancreatic cancers. The gene list has been expanded based on solid evidence that genes other than BRCA1/2 have proven to be increasing the risk of breast and ovarian cancers.

Risk genes associated with Breast, Ovarian, and Pancreatic cancer

breast-cancer-risk-genes

An expanded gene list summarized in the NCCN guideline¹ provides the lifetime genetic risk factors for breast, epithelial ovarian, and pancreatic cancer.

Gene	Breast cancer lifetime risk	Ovarian cancer lifetime risk	Pancreatic cancer lifetime risk
ATM	15%-40%	<3%	~5%-10%
BARD1	15%-40%	/	/
BRCA1	>60%	39%-58%	≤5%
BRCA2	>60%	13%-29%	5-10%
BRIP1	/	>10%	/
CDH1	41%-60%	/	/
CDKN2A	/	/	>15%
CHEK2	15%-40%	/	/
MSH2, MLH1, MSH6, PMS2, EPCAM	<15%	MLH1, MSH2: >10% MSH6: ≤13% PMS2: <3% EPCAM: <10%	<5%-10%
NF1	15%-40%	/	/
PALB2	41%-60%	3%-5%	5%-10%
PTEN	40%-60%	/	/
RAD51C	15%-40%	>10%	/
RAD51D	15%-40%	>10%	/
STK11	40%-60%	/	>15%
TP53	>60%	/	5%-10%

Remark: “/” = unknown or insufficient evidence, or no established association

Genes such as CDH1, TP53, PALB2, and PTEN contribute almost as much risk as BRCA1/2 in breast cancer. Some genes on the above list are also associated with other cancer risks. For example, BRCA1 and BRCA2 are associated with prostate cancer risk in males; CDH1 is associated with hereditary diffuse gastric cancer risk.

Multi-gene testing for breast cancer

Individuals who meet the genetic testing criteria (i.e. personal or family cancer history) but tested negative with previous genetic tests are suggested to consider multi-gene panel testing to cover more risk genes.

Source:

NCCN Clinical Practice Guideline in Oncology. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1. 2022

#breast-cancer #ovarian-cancer #pancreatic-cancer #NCCN

The services provided by Codex Genetics are for research use only, and they are not suitable for diagnostic and/or treatment use, unless otherwise instructed by licensed medical professionals.

除非有醫療專業人員另行指示，此網站的服務只供研究用途，並不供作診斷或治療任何疾病之用。

Codex Genetics Limited © 2024. CoGenesis® is a trademark of Codex Genetics Limited