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BRCA gene

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BRCA stands for "BReast CAncer gene" and refers to two distinct genes, BRCA1 and BRCA2, which have been linked to an individual's likelihood of developing breast cancer.

Both the BRCA1 and BRCA2 genes are present in every human. Despite their names, these genes are not responsible for causing breast cancer. In reality, they play a crucial role in preventing breast cancer by aiding in the repair of DNA breaks that can result in cancer and the unregulated growth of tumors. As a result, the BRCA genes are referred to as tumor suppressor genes.

Although not all women with a BRCA1 or BRCA2 gene mutation will develop breast or ovarian cancer, possessing such a mutation elevates the likelihood of contracting these types of cancer.

Human genes known as BRCA1 and BRCA2 generate tumor suppressor proteins that aid in the repair of damaged DNA, thereby contributing to the maintenance of genetic stability within cells. If these genes undergo modifications that prevent the production or proper functioning of their protein products, DNA damage may not be adequately repaired. Consequently, cells may acquire further genetic changes that increase the risk of cancer.

The genes BRCA1 and BRCA2, also known as BReast CAncer gene 1 and BReast CAncer gene 2 respectively, are responsible for producing proteins that aid in the repair of damaged DNA. Each individual inherits one copy of these genes from each parent, resulting in two copies of each gene. These genes are commonly referred to as tumor suppressor genes, as the presence of harmful variants or mutations can lead to the development of cancer.

Individuals who possess detrimental mutations in any of these genes are at a heightened susceptibility to various cancers, particularly breast and ovarian cancer, as well as other types. Moreover, those who have inherited a deleterious mutation in BRCA1 and BRCA2 are prone to developing cancer at an earlier age compared to those without such a mutation.

Either parent can pass on a detrimental variation in BRCA1 or BRCA2. If a parent carries a mutation in either of these genes, each of their children has a 50% chance (or 1 in 2 chance) of inheriting the mutation. These mutations, also known as germline mutations or variants, are present in all cells of the body from birth.

Although an individual may have received a detrimental variant in either BRCA1 or BRCA2 from one parent, they would have also received a healthy copy of the gene from the other parent. This is due to the fact that in the majority of cases, embryos with harmful variants from both parents are unable to develop. However, the healthy copy of the gene may be lost or altered in certain cells within the body over the course of the individual's life. This type of alteration is referred to as somatic. Cells lacking functional BRCA1 or BRCA2 proteins can proliferate uncontrollably and lead to the development of cancer.

Although these statistics may be concerning, it is crucial to acknowledge that a BRCA mutation is present in less than 10% of women who receive a breast cancer diagnosis. Additionally, with prompt identification, the overwhelming majority of breast cancer instances can be effectively managed, even for those with a BRCA1 or BRCA2 mutation.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Cancer of the mammary gland and see a list of existing studies.

SNP polymorphisms related to the topic Cancer of the mammary gland:

rs3803662The risk allele SNP rs3803662 and mRNA levels of the nearby TOX3 and LOC643714 genes predict unfavourable outcome for breast cancer patients.
rs1436904The CHST9 rs1436904 genetic variant contributes to the prognosis of triple negative breast cancer.
rs4245739Genetic predisposition to triple negative breast cancer.
rs2981579FGFR2 gene variation and the effect of low-fat diet on invasive breast cancer.
rs2981582Estrogen receptor-positive (ER+) breast cancer risk is 1.7 times higher.
rs13393577ERBB4 promoter polymorphism is associated with poor distant recurrence-free survival in early high-risk breast cancer.
rs10069690A common variant of the TERT locus is associated with breast cancers lacking estrogen receptors.
rs865686A common variant of the SIAH2 locus is associated with estrogen-positive breast cancer.
rs11571653
rs56128296
rs28897745
rs2909430
rs17883862
rs1800371
rs2912774
rs2420946
rs1219643
rs1017226
rs16886113
rs16886181
rs7726354
rs2229882
rs16886448
rs653465
rs16886364
rs4784223
rs2392780
rs12655019
rs16886397
rs3822625
rs28897693
rs11571657
rs55969723
rs17879961
rs2842347
rs11571833
rs132390
rs1810320
rs2236007
rs6835704
rs6001930
rs6828523
rs616488
rs6797852
rs2943559
rs6762644
rs204247
rs4322600
rs1292011
rs16941
rs56039126
rs62625307
rs28897692
rs28897677
rs614367
rs41293521
rs3769825
rs11249433
rs3757318
rs2363956
rs10771399
rs10822013
rs1562430
rs10995190
rs13281615
rs1011970
rs9485372
rs2046210
rs8170
rs704010
rs3817198
rs4973768
rs4784227
rs3112612
rs889312
rs2981575
rs13387042
rs2180341
rs1219648
rs11242675
rs2380205
rs10510102
rs9383938
rs7072776
rs2823093
rs6788895
rs720475
rs4849887
rs909116
rs1432679
rs999737
rs11199914
rs12922061
rs2284378
rs17530068
rs17356907
rs10941679
rs7904519
rs6504950
rs3760982
rs3734805
rs8100241
rs2588809
rs2981578
rs6472903
rs16886165
rs3903072
rs6556756
rs737387
rs4455437
rs12493607
rs527616
rs7535752
rs16857609
rs10853029
rs12422552
rs10759243
rs11780156
rs12355688
rs12710696
rs1926657
rs11820646
rs9790517
rs144848
rs10472076
rs9693444
rs11075995
rs13329835
rs1078806
rs941764
rs4808801
rs1550623
rs458685
rs11814448
rs6678914
rs63750330
rs1805812
rs41295284
rs78378222
rs769420
rs6470522
rs4986761
rs1800056
rs1799950
rs2227945
rs11571746
rs16942
rs1799954
rs3218695
rs55819519
rs1800058
rs4987117
rs3092856
rs1045487
rs11571747
rs1801673
rs4987047
rs1801426
rs28897708
rs1799977
rs28897680
rs1801499
rs11571707
rs28897689
rs4986844
rs56012641
rs28897683
rs8176260
rs11571769
rs1800709
rs28897727
rs1799965
rs28897728
rs28897701
rs8176316
rs56158747
rs9534262
rs4942486
rs1800704
rs1799967
rs4986852
rs28897706
rs55638633
rs169547
rs8176320
rs55716624
rs3092994
rs8176318
rs799923
rs28897710
rs9943888
rs4986854
rs1799944
rs55953736
rs11571640
rs517118
rs1801439
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