The genomic landscape of metastatic histologic special types of invasive breast cancer.
The genomic landscape of metastatic histologic special types of invasive breast cancer.
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转移性组织学特殊类型的浸润性乳腺癌的基因组景观。
DOI：
10.1038/s41523-020-00195-4
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发表时间：
2020
影响因子：
5.9
通讯作者：
Reis-Filho JS
中科院分区：
文献类型：
--
作者：
Pareja F;Ferrando L;Lee SSK;Beca F;Selenica P;Brown DN;Farmanbar A;Da Cruz Paula A;Vahdatinia M;Zhang H;Zoppoli G;Wen HY;Brogi E;Robson ME;Razavi P;Chandarlapaty S;Weigelt B;Reis-Filho JS
组织学特殊类型的乳腺癌（BC）约占BC的20%。转移性BC的大型测序研究集中在非特殊类型的浸润性导管癌（IDC-NST）。我们试图确定转移性组织学特殊类型的BC的体细胞遗传学改变。我们重新分析了309例特殊类型的乳腺癌的靶向捕获测序数据，包括转移性和原发性浸润性小叶癌（国际法委员会;分别为n = 132和n = 127），混合粘液性（n = 5转移性和n = 14原发性），微乳头状（n = 12例转移性和n = 8例原发性）和化生性BC（n = 6转移性和n = 5原发性），并将转移性组织学特殊类型的BC与转移性IDC进行比较，NST根据临床病理特征和原发特殊类型BC匹配。转移性和原发性特殊类型BC的基因组图谱相似。然而，我们注意到了重要的差异：转移性ILC在TP 53、ESR 1、FAT 1、RFWD 2和NF 1中的遗传变异频率高于原发性ILC，在CDH 1、PIK 3CA、ERBB 2、TBX 3、NCOR 1和RFWD 2中的遗传变异频率高于转移性IDC-NST。与原发性ILC和匹配的转移性IDC-NST相比，转移性ILC显示出更高的突变负荷和更频繁的显性APOBEC突变特征。ESR 1和NCOR突变常在转移性混合粘液性BC中检测到，而PIK 3CA和TP 53分别是转移性微乳头状和化生性BC中最常改变的基因。两者合计，原发性和转移性BC组织学特殊类型具有非常相似的体细胞遗传学改变。转移性ILC比原发性ILC和转移性IDC-NST更频繁地具有APOBEC突变特征。
Histologic special types of breast cancer (BC) account for ~20% of BCs. Large sequencing studies of metastatic BC have focused on invasive ductal carcinomas of no special type (IDC-NSTs). We sought to define the repertoire of somatic genetic alterations of metastatic histologic special types of BC. We reanalyzed targeted capture sequencing data of 309 special types of BC, including metastatic and primary invasive lobular carcinomas (ILCs; n = 132 and n = 127, respectively), mixed mucinous (n = 5 metastatic and n = 14 primary), micropapillary (n = 12 metastatic and n = 8 primary), and metaplastic BCs (n = 6 metastatic and n = 5 primary), and compared metastatic histologic special types of BC to metastatic IDC-NSTs matched according to clinicopathologic characteristics and to primary special type BCs. The genomic profiles of metastatic and primary special types of BC were similar. Important differences, however, were noted: metastatic ILCs harbored a higher frequency of genetic alterations in TP53, ESR1, FAT1, RFWD2, and NF1 than primary ILCs, and in CDH1, PIK3CA, ERBB2, TBX3, NCOR1, and RFWD2 than metastatic IDC-NSTs. Metastatic ILCs displayed a higher mutational burden, and more frequently dominant APOBEC mutational signatures than primary ILCs and matched metastatic IDC-NSTs. ESR1 and NCOR mutations were frequently detected in metastatic mixed mucinous BCs, whereas PIK3CA and TP53 were the most frequently altered genes in metastatic micropapillary and metaplastic BCs, respectively. Taken together, primary and metastatic BCs histologic special types have remarkably similar repertoires of somatic genetic alterations. Metastatic ILCs more frequently harbor APOBEC mutational signatures than primary ILCs and metastatic IDC-NSTs.
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影响因子：
7.3
作者：
Gao J;Aksoy BA;Dogrusoz U;Dresdner G;Gross B;Sumer SO;Sun Y;Jacobsen A;Sinha R;Larsson E;Cerami E;Sander C;Schultz N
通讯作者：
Schultz N
影响因子：
64.8
作者：
Hyman DM;Piha-Paul SA;Won H;Rodon J;Saura C;Shapiro GI;Juric D;Quinn DI;Moreno V;Doger B;Mayer IA;Boni V;Calvo E;Loi S;Lockhart AC;Erinjeri JP;Scaltriti M;Ulaner GA;Patel J;Tang J;Beer H;Selcuklu SD;Hanrahan AJ;Bouvier N;Melcer M;Murali R;Schram AM;Smyth LM;Jhaveri K;Li BT;Drilon A;Harding JJ;Iyer G;Taylor BS;Berger MF;Cutler RE Jr;Xu F;Butturini A;Eli LD;Mann G;Farrell C;Lalani AS;Bryce RP;Arteaga CL;Meric-Bernstam F;Baselga J;Solit DB
通讯作者：
Solit DB
影响因子：
64.8
作者：
Nik-Zainal S;Davies H;Staaf J;Ramakrishna M;Glodzik D;Zou X;Martincorena I;Alexandrov LB;Martin S;Wedge DC;Van Loo P;Ju YS;Smid M;Brinkman AB;Morganella S;Aure MR;Lingjærde OC;Langerød A;Ringnér M;Ahn SM;Boyault S;Brock JE;Broeks A;Butler A;Desmedt C;Dirix L;Dronov S;Fatima A;Foekens JA;Gerstung M;Hooijer GK;Jang SJ;Jones DR;Kim HY;King TA;Krishnamurthy S;Lee HJ;Lee JY;Li Y;McLaren S;Menzies A;Mustonen V;O'Meara S;Pauporté I;Pivot X;Purdie CA;Raine K;Ramakrishnan K;Rodríguez-González FG;Romieu G;Sieuwerts AM;Simpson PT;Shepherd R;Stebbings L;Stefansson OA;Teague J;Tommasi S;Treilleux I;Van den Eynden GG;Vermeulen P;Vincent-Salomon A;Yates L;Caldas C;van't Veer L;Tutt A;Knappskog S;Tan BK;Jonkers J;Borg Å;Ueno NT;Sotiriou C;Viari A;Futreal PA;Campbell PJ;Span PN;Van Laere S;Lakhani SR;Eyfjord JE;Thompson AM;Birney E;Stunnenberg HG;van de Vijver MJ;Martens JW;Børresen-Dale AL;Richardson AL;Kong G;Thomas G;Stratton MR
通讯作者：
Stratton MR
影响因子：
7.3
作者：
Lacroix-Triki, Magali;Suarez, Paula H.;Reis-Filho, Jorge S.
通讯作者：
Reis-Filho, Jorge S.
影响因子：
64.8
作者：
Dornan, D;Wertz, I;Dixit, VM
通讯作者：
Dixit, VM