Lurp

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


rs16942

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
BRCA1 is a human tumor suppressor gene found in all humans; its protein, also called breast cancer type 1 susceptibility protein, is responsible for repairing DNA. BRCA1 (and BRCA2) are normally expressed in cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if the DNA cannot be repaired. If BRCA1 or BRCA2 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 BRCA2 mutation depends on many factors.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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