Cross-platforn SNP explorer. By Peter D'Adamo, ND


Hard Link
rs16942 is a snp on gene BRCA1 (breast cancer 1, early onset)

GeneBRCA1 Chromosome number 17 Chromosome position 43091983
Alleles T/C (transliterated to +) Minor Allele C Minor Allele Frequency 0.3526
Notation 3548A>G Lys1183Arg Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant.
Gene Function
The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor, also called breast cancer type 1 susceptibility protein. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way. The BRCA1 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, the BRCA1 protein plays a critical role in maintaining the stability of a cell's genetic information. Research suggests that the BRCA1 protein also regulates the activity of other genes and plays an essential role in embryonic development. To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division. If BRCA1 or BRCA2 (another tumor suppressor gene) are affected by a BRCA mutation, damaged DNA is not repaired properly, and cells with damaged DNA are not destroyed. This increases the risk for breast cancer. Thus, although the terms "breast cancer susceptibility gene" and "breast cancer susceptibility protein" sound as if they describe a cancer-causing gene, BRCA1 and BRCA2 are normal; it is their mutation that is abnormal. Women with a BRCA1 mutation appear to have a diminished reserve of eggs in their ovaries and decreased fertility compared to normally-aging women, and also undergo menopause prematurely. Since BRCA1 is a key DNA repair protein, this suggests that naturally occurring DNA damage in eggs is repaired less efficiently in women with a BRCA1 defect, and that this inefficiency in repair leads to an early reduction in fertility. In general, inherited gene mutations (including mutations in BRCA1) account for only 5-10% of breast cancer cases; the specific risk of getting breast or other cancer for anyone carrying a BRCA mutation depends on many factors. Breast cancers in women with BRCA1 abnormalities are more likely to be estrogen-receptor-negative — meaning that the cancer’s growth is not fueled by the hormone estrogen — and to have high-grade cell growth. Both of these characteristics mean that chemotherapy will be more effective than hormonal (anti-estrogen) therapy in treating these cancers. A person with a BRCA2 mutation, however, is more likely to be a candidate for hormonal therapy.  Researchers have identified more than 1,800 mutations in the BRCA1 gene, some are very rare. Many of these mutations are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. These mutations are present in every cell in the body and can be passed from one generation to the next. As a result, they are associated with cancers that cluster in families. However, not everyone who inherits a mutation in the BRCA1 gene will develop cancer. Other genetic, environmental, and lifestyle factors also contribute to a person's cancer risk. Most BRCA1 gene mutations lead to the production of an abnormally short version of the BRCA1 protein or prevent any protein from being made from one copy of the gene. As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can trigger cells to grow and divide uncontrollably to form a tumor. Many of the same BRCA1 gene mutations that increase the risk of breast cancer also increase the risk of ovarian cancer. Families with these mutations are often said to be affected by hereditary breast and ovarian cancer syndrome. Women with BRCA1 gene mutations have a 35 to 60 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. At least five inherited BRCA1 gene mutations have been found to increase the risk of prostate cancer. These mutations likely reduce the BRCA1 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. The accumulation of damaging mutations can lead to the out-of-control cell growth and division that can cause a tumor to develop. Men who carry a BRCA1 gene mutation that increases the risk of prostate cancer may also be at increased risk for other cancers. Inherited mutations in the BRCA1 gene also increase the risk of several other types of cancer, including pancreatic cancer and colon cancer. These mutations impair the ability of the BRCA1 protein to help repair damaged DNA. As defects accumulate in DNA, they can trigger cells to grow and divide without order to form a tumor. It is not clear why different individuals with BRCA1 mutations develop cancers in different organs. Environmental factors that affect specific organs may contribute to the development of cancers at particular sites.
This SNP is reported by one or more services.

23andme V3


23andme V4


23andme V5


Ancestry DNA


Genos Export for Promethease


Opus 23 Curated




GWAS Curated


Rs1801131 (MTHFR) | i5000294 (GIF) | rs35829419 (NLRP3) | rs2472553 (CHRNA2) | rs3811450 (CHRNB2) | rs1051730 (CHRNA3) | rs2571598 (ACHE) | rs1056836 (CYP1B1) | rs6036025 (CHR20-LOC22059230) | rs2808630 (CRP) | rs1061472 (ATP7B)

rs1799941 (SHBG) | rs9939609 (FTO) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs6025 (F5) | rs2075252 (LRP2) | rs20541 (IL13) | rs4680 (COMT) | rs2569191 (CD14) | rs2235544 (DIO1) | rs2844682 ()