Is it important to test for the presence of inherited harmful variants in BRCA1 or BRCA2 ?
People who inherit harmful variants in one of these genes have increased risks of several cancers—most notably breast and ovarian cancer.
The benefits of genetic testing outweigh any harm. Apart from the sense of relief from uncertainty and helping people make informed decisions about managing their health care, a true negative result can eliminate the need for unnecessary checkups and screening tests. A positive test result can direct a person toward available prevention, monitoring and treatment options.
How can a person who has inherited a harmful BRCA1 or BRCA2 gene variant reduce their risk of cancer?
Several options are available for reducing cancer risk in individuals who have inherited a harmful BRCA1 or BRCA2 variant. These include enhanced screening, risk-reducing surgery (sometimes referred to as prophylactic surgery), and chemoprevention.
11 situations should consider genetic testing for BRCA1 and BRCA2 variants
- A personal history of breast cancer diagnosed before age 45
- A personal history of breast cancer diagnosed before age 50 and a second primary breast cancer, one or more relatives with breast cancer, or an unknown or limited family medical history
- A personal history of triple negative breast cancer diagnosed at age 60 or younger
- A personal history of two or more types of cancer
- A personal history of ovarian cancer
- A personal history of male breast cancer
- A personal history of breast cancer and one or more relatives with breast cancer diagnosed before age 50, two or more relatives diagnosed with breast cancer at any age, one or more relatives with ovarian cancer, one or more relatives with male breast cancer, or two or more relatives with prostate cancer or pancreatic cancer
- A personal history of breast cancer and Ashkenazi (Eastern European) Jewish ancestry
- A personal history of prostate cancer or pancreatic cancer with two or more relatives with BRCA-associated cancers
- A history of breast cancer at a young age in two or more blood relatives, such as your parents, siblings or children
- A relative with a known BRCA1 or BRCA2 mutation
- One or more relatives with a history of cancer that would meet any of these criteria for gene testing.
Is there any treatment implications when having a harmful BRCA1 or BRCA2 variant for patients who have already developed cancer?
A class of drugs called PARP inhibitors, which block the repair of DNA damage, have been found to arrest the growth of cancer cells that have harmful BRCA1 or BRCA2 variants. Four PARP inhibitors—olaparib [Lynparza], rucaparib [Rubraca], niraparib [Zejula], and talazoparib [Talzenna]—are approved by the FDA to treat certain cancers bearing harmful variants in BRCA1 or BRCA2.
IS HRR TESTING AVAILABLE AT ALFA LAB?
Yes, by NGS technique in the genetic unit, too.
TEST INFO:
| SAMPLE: | 3mL EDTA BLOOD |
| TAT: | 3 WKS |
| PRICE: |
REFERENCES:
- Howlader N, Noone AM, Krapcho M, et al. SEER Cancer Statistics Review, 1975–2017, National Cancer Institute. Bethesda, MD, https://seer.cancer.gov/csr/1975_2017/, based on November 2019 SEER data submission, posted to the SEER web site, April 2020.
- Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317(23):2402–2416. [PubMed Abstract]
- Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology 2007; 25(11):1329–1333. [PubMed Abstract]
https://www.mayoclinic.org