Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
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DOI：
10.1007/s10549-022-06560-0
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发表时间：
2022-06
影响因子：
3.8
通讯作者：
Olopade, Olufunmilayo, I
中科院分区：
文献类型：
--
作者：
Felix, Gabriela E. S.;Guindalini, Rodrigo Santa Cruz;Zheng, Yonglan;Walsh, Tom;Sveen, Elisabeth;Machado Lopes, Taisa Manuela;Cortes, Juliana;Zhang, Jing;Carozo, Polyanna;Santos, Irlania;Bonfim, Thais Ferreira;Garicochea, Bernardo;Pereira Toralles, Maria Betania;Meyer, Roberto;Netto, Eduardo Martins;Abe-Sandes, Kiyoko;King, Mary-Claire;de Oliveira Nascimento, Ivana Lucia;Olopade, Olufunmilayo, I
关于巴西东北部地区非洲裔妇女致病变异的谱系和流行率的数据很少。我们进行了BROCA小组测序，以确定292名巴西女性乳腺癌易感基因的遗传性功能丧失变异，这些变异是由一个单一机构的癌症风险评估项目参考的。这项研究包括173名患有浸润性乳腺癌的女性(病例)和119名在确诊时未患癌症的女性。大多数妇女自我报告为非洲人后裔(病例为67%，未受影响的志愿者为90.8%)。在36例(20.8%)患者中发现37个致病变异体。虽然致病变异谱是异质性的，但大多数(70.3%)致病变异体是在高危基因BRCA1、BRCA2、PALB2和TP53中检测到的。在6.4%的患病妇女中，ATM、BARD1、BRIP1、FAM175A、FANCM、NBN和SLX4基因也发现了致病变异。在11名非洲血统的患者中发现了4个复发的致病变异。只有一名未受影响的妇女在RAD51C基因中有致病变异。所考察的不同风险评估模型在预测乳腺癌病例中携带BRCA1和/或BRCA2的生殖系功能缺失变异的风险方面表现良好。在巴西东北部自我报告的非洲后裔中发现的致病变异的高流行率和异质性，与对其他侵袭性年轻乳腺癌负担较高的非洲祖先人群的研究一致。它强调需要将全面的癌症风险评估和基因组测试整合到整个非洲侨民中新诊断患有乳腺癌的黑人妇女的管理中，从而能够在混合、服务不足和研究不足的人群中改善癌症控制。网上版载有补充材料，可在10.1007/s10549-022-06560-0查阅。
There is a paucity of data on the spectrum and prevalence of pathogenic variants among women of African ancestry in the Northeast region of Brazil. We performed BROCA panel sequencing to identify inherited loss-of-function variants in breast cancer susceptibility genes among 292 Brazilian women referred to a single institution cancer risk assessment program. The study included a convenient cohort of 173 women with invasive breast cancer (cases) and 119 women who were cancer-free at the time of ascertainment. The majority of the women self-reported as African-descended (67% for cases and 90.8% for unaffected volunteers). Thirty-seven pathogenic variants were found in 36 (20.8%) patients. While the spectrum of pathogenic variants was heterogeneous, the majority (70.3%) of the pathogenic variants were detected in high-risk genes BRCA1, BRCA2, PALB2, and TP53. Pathogenic variants were also found in the ATM, BARD1, BRIP1, FAM175A, FANCM, NBN, and SLX4 genes in 6.4% of the affected women. Four recurrent pathogenic variants were detected in 11 patients of African ancestry. Only one unaffected woman had a pathogenic variant in the RAD51C gene. Different risk assessment models examined performed well in predicting risk of carrying germline loss-of-function variants in BRCA1 and/or BRCA2 in breast cancer cases. The high prevalence and heterogenous spectrum of pathogenic variants identified among self-reported African descendants in Northeast Brazil is consistent with studies in other African ancestry populations with a high burden of aggressive young onset breast cancer. It underscores the need to integrate comprehensive cancer risk assessment and genomic testing in the management of newly diagnosed Black women with breast cancer across the African Diaspora, enabling improved cancer control in admixed underserved and understudied populations. The online version contains supplementary material available at 10.1007/s10549-022-06560-0.
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BRCA1和BRCA2突变载体中乳腺癌和卵巢癌的病理学：BRCA1/2修饰符研究者联盟的结果（CIMBA）。
DOI：
10.1158/1055-9965.epi-11-0775
发表时间：
2012-01
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Mavaddat N;Barrowdale D;Andrulis IL;Domchek SM;Eccles D;Nevanlinna H;Ramus SJ;Spurdle A;Robson M;Sherman M;Mulligan AM;Couch FJ;Engel C;McGuffog L;Healey S;Sinilnikova OM;Southey MC;Terry MB;Goldgar D;O'Malley F;John EM;Janavicius R;Tihomirova L;Hansen TV;Nielsen FC;Osorio A;Stavropoulou A;Benítez J;Manoukian S;Peissel B;Barile M;Volorio S;Pasini B;Dolcetti R;Putignano AL;Ottini L;Radice P;Hamann U;Rashid MU;Hogervorst FB;Kriege M;van der Luijt RB;HEBON;Peock S;Frost D;Evans DG;Brewer C;Walker L;Rogers MT;Side LE;Houghton C;EMBRACE;Weaver J;Godwin AK;Schmutzler RK;Wappenschmidt B;Meindl A;Kast K;Arnold N;Niederacher D;Sutter C;Deissler H;Gadzicki D;Preisler-Adams S;Varon-Mateeva R;Schönbuchner I;Gevensleben H;Stoppa-Lyonnet D;Belotti M;Barjhoux L;GEMO Study Collaborators;Isaacs C;Peshkin BN;Caldes T;de la Hoya M;Cañadas C;Heikkinen T;Heikkilä P;Aittomäki K;Blanco I;Lazaro C;Brunet J;Agnarsson BA;Arason A;Barkardottir RB;Dumont M;Simard J;Montagna M;Agata S;D'Andrea E;Yan M;Fox S;kConFab Investigators;Rebbeck TR;Rubinstein W;Tung N;Garber JE;Wang X;Fredericksen Z;Pankratz VS;Lindor NM;Szabo C;Offit K;Sakr R;Gaudet MM;Singer CF;Tea MK;Rappaport C;Mai PL;Greene MH;Sokolenko A;Imyanitov E;Toland AE;Senter L;Sweet K;Thomassen M;Gerdes AM;Kruse T;Caligo M;Aretini P;Rantala J;von Wachenfeld A;Henriksson K;SWE-BRCA Collaborators;Steele L;Neuhausen SL;Nussbaum R;Beattie M;Odunsi K;Sucheston L;Gayther SA;Nathanson K;Gross J;Walsh C;Karlan B;Chenevix-Trench G;Easton DF;Antoniou AC;Consortium of Investigators of Modifiers of BRCA1/2
通讯作者：
Consortium of Investigators of Modifiers of BRCA1/2
影响因子：
4.4
作者：
Nord AS;Lee M;King MC;Walsh T
通讯作者：
Walsh T
影响因子：
2.9
作者：
De Moura, Ronald Rodrigues;Campos Coelho, Antonio Victor;Cavalcanti Brandao, Lucas Andre
通讯作者：
Cavalcanti Brandao, Lucas Andre
影响因子：
10.3
作者：
Palmer, Julie R.;Polley, Eric C.;Couch, Fergus J.
通讯作者：
Couch, Fergus J.
影响因子：
5.2
作者：
da Silva, Thiago Magalhaes;Sandhya Rani, M. R.;Blanton, Ronald E.
通讯作者：
Blanton, Ronald E.