Whole-Exome Sequencing Reveals High Mutational Concordance between Primary and Matched Recurrent Triple-Negative Breast Cancers.
Whole-Exome Sequencing Reveals High Mutational Concordance between Primary and Matched Recurrent Triple-Negative Breast Cancers.
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DOI：
10.3390/genes14091690
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发表时间：
2023-08-25
期刊：
影响因子：
3.5
通讯作者：
Aneja, Ritu
中科院分区：
文献类型：
--
作者：
Kaur, Jaspreet;Chandrashekar, Darshan S.;Varga, Zsuzsanna;Sobottka, Bettina;Janssen, Emiel;Gandhi, Khanjan;Kowalski, Jeanne;Kiraz, Umay;Varambally, Sooryanarayana;Aneja, Ritu
目的：三阴性乳腺癌（TNBC）是一种分子复杂且异质的乳腺癌亚型，具有独特的生物学特征和临床行为。尽管 TNBC 与转移和复发风险增加相关，但 TNBC 转移的分子机制仍不清楚。我们对原发性 TNBC 和配对的复发肿瘤进行全外显子组测序 (WES) 分析，以研究 TNBC 的基因谱。方法：从 26 名 TNBC 患者的 35 份福尔马林固定石蜡包埋的组织样本中提取基因组 DNA，进行 WES。其中，15 个是未复发的原发肿瘤，11 个是复发的原发肿瘤（九对原发肿瘤和复发肿瘤）。分析肿瘤的单核苷酸变异和插入/缺失。结果：复发的原发肿瘤的肿瘤突变负荷（TMB）为 7.6 个变体/兆碱基（n = 9）； 8.2 相应复发肿瘤中的变体/兆碱基（n = 9）； 7.3 未复发原发肿瘤中的变体/兆碱基 (n = 15)。 MUC3A 是所有组中最常见的突变基因。 MAP3K1 和 MUC16 的突变在我们的数据集中更为常见。我们的数据集中未检测到 PI3KCA 的改变。结论：我们发现原发性肿瘤和配对复发性肿瘤之间有相似的突变谱，这表明基因组特征可能在局部复发期间保留。
Purpose: Triple-negative breast cancer (TNBC) is a molecularly complex and heterogeneous breast cancer subtype with distinct biological features and clinical behavior. Although TNBC is associated with an increased risk of metastasis and recurrence, the molecular mechanisms underlying TNBC metastasis remain unclear. We performed whole-exome sequencing (WES) analysis of primary TNBC and paired recurrent tumors to investigate the genetic profile of TNBC. Methods: Genomic DNA extracted from 35 formalin-fixed paraffin-embedded tissue samples from 26 TNBC patients was subjected to WES. Of these, 15 were primary tumors that did not have recurrence, and 11 were primary tumors that had recurrence (nine paired primary and recurrent tumors). Tumors were analyzed for single-nucleotide variants and insertions/deletions. Results: The tumor mutational burden (TMB) was 7.6 variants/megabase in primary tumors that recurred (n = 9); 8.2 variants/megabase in corresponding recurrent tumors (n = 9); and 7.3 variants/megabase in primary tumors that did not recur (n = 15). MUC3A was the most frequently mutated gene in all groups. Mutations in MAP3K1 and MUC16 were more common in our dataset. No alterations in PI3KCA were detected in our dataset. Conclusions: We found similar mutational profiles between primary and paired recurrent tumors, suggesting that genomic features may be retained during local recurrence.
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DOI：
10.1097/pai.0000000000000717
发表时间：
2020-02-01
影响因子：
1.6
作者：
Kim, Ga-Eon;Kim, Nah Ihm;Kang, Keunsoo
通讯作者：
Kang, Keunsoo
影响因子：
45.3
作者：
Atchley, Deann P.;Albarracin, Constance T.;Arun, Banu K.
通讯作者：
Arun, Banu K.
影响因子：
2.9
作者：
Cheng, Jia'nan;Ding, Xiaofang;Jia, Qingzhu
通讯作者：
Jia, Qingzhu
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
DOI：
10.1186/bcr1604
发表时间：
2006
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Grigoriadis A;Mackay A;Reis-Filho JS;Steele D;Iseli C;Stevenson BJ;Jongeneel CV;Valgeirsson H;Fenwick K;Iravani M;Leao M;Simpson AJ;Strausberg RL;Jat PS;Ashworth A;Neville AM;O'Hare MJ
通讯作者：
O'Hare MJ