SUMMARY: Discovery of novel genetic variants associated with triple-negative breast cancer.
OVERVIEW: Breasts are complex structures with multiple cell types which can give rise to multiple types of cancer. Breast cancers are classified by what receptors cancer cells have on the outside. This classification is helpful for predicting outcomes and effective treatments. Triple-negative breast cancer is any type of breast cancer that has neither the estrogen receptor, progesterone receptor, nor human epidermal growth factor 2 (HER2) receptor. Triple-negative breast cancers are still fairly heterogeneous, with some subtypes being more aggressive than others. 15-20% of all breast cancer cases are triple-negative breast cancers. These cancers often also have mutations in the BRCA1 gene. This genome-wide association study examined nearly 266,000 individuals of European ancestry to identify genetic variants associated with different breast cancer types, including triple-negative breast cancer. In total, the researchers identified 330 genomic regions associated with breast cancer types and used them to calculate polygenic scores. Interestingly, some variants were found to reduce the risk of some breast cancer types while increasing the risk of others. For example, the G allele of rs78378222, a variant associated with the tumor suppressor gene TP53, is protective against triple-negative breast cancer but increases the risk of luminal B-like breast cancer. Together, all the identified variants explain approximately 37.6% of the heritability for triple-negative breast cancer.
DID YOU KNOW? Since triple-negative breast cancers are associated with BRCA1 mutations, some research suggests that women with triple-negative breast cancer should also be tested to see if they carry any BRCA1 mutations. BRCA1/2 mutations can increase the risk of developing a second breast tumor independent of the first. [SOURCE]
SAMPLE RESULTS: Learn more about the Nebula Research Library.
TRIPLE NEGATIVE BREAST CANCER-ASSOCIATED VARIANTS: rs9712235, rs4602255, rs1375631, rs188092014, rs13256025, rs13277568, rs4742903, rs11652463, rs495367, rs7924772, rs78378222, rs206435, rs6065254, rs17215231, rs612683, rs616488, rs7513707, rs12406858, rs637868, rs11249433, rs111458676, rs11205303, rs2992756, rs35383942, rs6686987, rs7514172, rs2785646, rs2576261, rs11117758, rs11118563, rs72755295, rs4233486, rs114282204, rs707475, rs17426269, rs2151842, rs78425380, rs6746250, rs17625845, rs10164550, rs10179592, rs17726078, rs2356656, rs6743383, rs10197246, rs4442975, rs11693806, rs3791977, rs4676356, rs6725517, rs12472404, rs6756513, rs1036759, rs58058861, rs9882792, rs552647, rs112476261, rs17838698, rs56387622, rs6762558, rs2886671, rs9825432, rs13066793, rs639355, rs62331150, rs56039025, rs28436676, rs62334414, rs13147907, rs10012017, rs17014016, rs17157372, rs335160, rs1428387, rs10069690, rs6860806, rs6596100, rs62329727, rs1432679, rs17611291, rs10074269, rs6864691, rs4868701, rs4866496, rs116095464, rs187108781, rs4613718, rs10941679, rs17343002, rs889310, rs16886165, rs76250845, rs11949391, rs113778879, rs3010266, rs332529, rs418053, rs6913578, rs60954078, rs851984, rs6904031, rs910416, rs3819405, rs9364472, rs6940159, rs12211970, rs34196306, rs111342015, rs73754909, rs71559437, rs7800548, rs12706954, rs68056147, rs62485509, rs7971, rs289997, rs74765302, rs13244925, rs17268829, rs4439053, rs111963714, rs62517052, rs12546444, rs13267382, rs62526620, rs35542655, rs12541094, rs7842619, rs12550713, rs10096351, rs1016578, rs7830152, rs66823261, rs1028016, rs310295, rs9693444, rs13365225, rs1511243, rs72658084, rs1533366, rs7848334, rs630965, rs1895062, rs3861871, rs17694493, rs4880038, rs10975870, rs665889, rs10120432, rs10885405, rs12250948, rs9421410, rs45631580, rs45631563, rs10796139, rs7072776, rs10764337, rs2384736, rs10995201, rs6479868, rs111833376, rs719338, rs4980029, rs7125780, rs625145, rs7121616, rs7939702, rs11822830, rs10832963, rs4980386, rs4472923, rs10838267, rs77047825, rs12287832, rs10896047, rs35039974, rs661204, rs78540526, rs6597981, rs2454399, rs12422552, rs788458, rs7297051, rs2277339, rs17356907, rs56404467, rs11571833, rs9315973, rs12870942, rs2181965, rs4983544, rs34914085, rs2253012, rs11624333, rs941764, rs78440108, rs144767203, rs187010898, rs4774565, rs8042593, rs35874463, rs8035987, rs2290202, rs34872983, rs75753503, rs11076805, rs35668161, rs4784227, rs55872725, rs6499648, rs7184573, rs28539243, rs12709163, rs7500067, rs9931038, rs12449271, rs79461387, rs150537328, rs11296, rs17881320, rs149370081, rs2787486, rs745570, rs16976596, rs11665269, rs1111207, rs527616, rs8092192, rs72931898, rs9954058, rs9952980, rs117922601, rs56069439, rs10164323, rs56681946, rs4399645, rs1172821, rs1154723, rs6030585, rs16991615, rs2822999, rs2823130, rs2403907, rs4818836, rs9798754, rs17879961, rs5997390, rs34134147, rs132289, rs5750715, rs9611990, rs112855987, rs28512361
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WEEKLY UPDATE: June 2, 2020