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Hereditary cancer in clinical practice

SCI

中文名称：临床实践中的遗传性癌症

ISSN：1731-2302
出版周期：-

发文量：581

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1.Close ties: an exploratory Colored Eco-Genetic Relationship Map (CEGRM) study of social connections of men in Familial Testicular Cancer (FTC) families

机译：亲密关系：探索性彩色生态遗传关系图（CEGRM）对家族性睾丸癌（FTC）家庭中男性社交关系的研究
- 作者：June A Peters;Regina Kenen;Lindsey M Hoskins;Gladys M Glenn;Christian Kratz;Mark H Greene
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第1期
2.Polyposis syndromes– what to do when genotyping seems not informative

机译：息肉综合症-基因分型似乎不能提供信息时该怎么办
- 作者：F Macrae
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
3.RAD21 overexpression is frequently observed in BRCA-X Prostate Cancers

机译：在BRCA-X前列腺癌中经常观察到RAD21过表达
- 作者：S Deb;X Huiling;H Thorne;A Willems-Jones;D Clouston;D Bolton;R Ramsay;SB Fox;KconFab Investigators
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
4.Spectrum of tumors in the families with Hereditary Breast Ovarian Cancer syndrome carrying germline mutations in BRCA1 and 2 genes

机译：携带BRCA1和2基因种系突变的遗传性乳腺卵巢癌综合征家庭的肿瘤谱
- 作者：M Budryk;J Pamu?a-Pi?at;K T?cza;E Grzybowska
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla1期
5.Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

机译：黎巴嫩家族性乳腺癌患者中BRCA1和BRCA2突变的患病率
- 作者：Nadine Jalkh;Jinane Nassar-Slaba;Eliane Chouery;Nabiha Salem;Nancy Uhrchammer;Lisa Golmard;Domique Stoppa-Lyonnet;Yves-Jean Bignon;AndraMagarbana
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第1期
6.Screening with Magnetic Resonance Imaging in women at low and intermediate risk of breast Cancer

机译：中低度乳腺癌女性的磁共振成像筛查
- 作者：T T Huzarski;B Gorecka-Szyld;J J Huzarska;G Psut;G Wilk;R Sibilski;C Cybulski;B Kozak-Klonowska;M Sio?ek;E Kilar;D Czudowska;H Janiszewska;D Godlewski;A Mackiewicz;J Jarkiewicz-Tretyn;I Szabo-Moskal;J Gronwald;J Lubi?ski;SA Narod
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
7.Functional polymorphisms in the TERT promoter are associated with risk of serious ovarian and breast cancer

机译：TERT启动子中的功能多态性与严重卵巢癌和乳腺癌的风险相关
- 作者：Jonathan Beesley;Hilda Pickett;Sharon Johnatty;Xiaoqing Chen;Jun Jun Li;David Rider;Michael Stutz;Diether Lambrecht;Jenny Chang-Claude;Thilo Dork;Marc Goodman;Bart Kiemmney;Elisa Bandera;Linda Kelemen;Shan Wang-Gorke;Ian Campbell;Simon Gay
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
8.Iron and breast cancer risk

机译：铁和乳腺癌的风险
- 作者：Grzegorz Sukiennicki;Magdalena Muszy?ska;Tomasz Huzarski;Jacek Gronwald;Cezary Cybulski;Tadeusz D?bniak;Aleksandra To?oczko-Grabarek;Oleg Oszurek;Anna Jakubowska;Antoni Morawski;Jan Lubi?ski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
9.Clinical practice improvement in the genetics clinic

机译：遗传学诊所的临床实践改进
- 作者：S Greening
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
10.Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience

机译：SDHB在嗜铬细胞瘤-副神经节瘤综合征中的基因检测和免疫组化：南澳大利亚的经验
- 作者：NK Poplawski;L Rawlings;J Seymour;C Vakulin;A Tirimacco;DE Benn;AJ Gill
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
11.GWAS markers in diagnostics of breast cancer risk

机译：GWAS标志物在乳腺癌风险诊断中的作用
- 作者：Anna Jakubowska
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
12.Contribution of genetic variation within SuprMam1 and SuprMam2 to breast cancer susceptibility

机译：SuprMam1和SuprMam2中的遗传变异对乳腺癌易感性的贡献
- 作者：M Ratnadiwakara;M Rooke;R Williams;AC Blackburn
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
13.Is the whole greater than the sum of its parts?

机译：整体大于部分之和吗？
- 作者：L Andrews;J Duffy
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
14.‘PREMM 1,2,6 MODEL’ as a new gene specific prediction model for Lynch Syndrome: retrospective review of mutation positive cases

机译：“ PREMM 1,2,6模型”作为Lynch综合征的新基因特异性预测模型：对突变阳性病例的回顾
- 作者：J Gale
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
15.Mismatch repair gene mutations and cancer risks: an update

机译：错配修复基因突变和癌症风险：最新进展
- 作者：AK Win;JL Hopper;MA Jenkins;Australasian Colorectal Cancer Family Study;the Colon Cancer Family Registry
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
16.A genome-wide association study to identify genetic markers associated with endometrial cancer grade

机译：全基因组关联研究，以鉴定与子宫内膜癌分级相关的遗传标记
- 作者：T OMara;D Duffy;DJ Thompson;S Ahmed;K Ferguson;CS Healey;G Montgomery;M Shah;J Morrison;PP Pharoah;AM Dunning;PM Webb;DF Easton;AB Spurdle;ANECS
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
17.HOXB13 mutations and prostate cancer in Poland

机译：波兰的HOXB13突变与前列腺癌
- 作者：Wojciech Kluniak;Dominika Woko?orczyk;Jan Lubi?ski;Cezary Cybulski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
18.BRCA1 mutation in the Triple- Negative Breast Cancer Group

机译：三阴性乳腺癌组中的BRCA1突变
- 作者：Jelena Maksimenko;Arvids Irmejs;Genadijs Trofimovics;Edvins Miklasevics
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
19.The challenges of finding the gene responsible for a rare, autosomal dominant gastric cancer susceptibility syndrome

机译：寻找导致罕见的常染色体显性遗传性胃癌易感性综合征的基因的挑战
- 作者：JJ Li;S Healey;K Phillips;I Makunin;N Wayte;I Schrader;D Worthley;N Lindor;D Huntsman;D Goldgar;G Suthers;G Chenevix-Trench
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
20.KRAS mutation in relation to HER2 overexpression/amplification in colorectal cancer

机译：KRAS突变与大肠癌中HER2过度表达/扩增有关
- 作者：Julia K Bar;Anna Lis-Nawara;Arleta Lebioda;Anna Jonkisz;Micha?Jele?Tadeusz Dobosz
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
21.Selenium and cancer risk in CHEK2 mutation carriers

机译：CHEK2突变携带者中的硒和癌症风险
- 作者：Satish Gupta;Katarzyna Jaworska;Katarzyna Durda;Grzegorz Sukiennicki;Magdalena Muszy?ska;Anna Jakubowska;Jan Lubinski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla3期
22.I just did it for the kids: mothering in the context of living with an increased risk of ovarian cancer

机译：我只是为孩子们做的：在生活中患卵巢癌的风险增加的背景下做母亲
- 作者：A McEwen
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
23.A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

机译：一项多中心国际质量控制研究，比较了ENIGMA联盟的mRNA剪接测定方案和报告方法
- 作者：P Whiley;LC Walker;M De LA Hoya;B Wappenschmidt;A Becker;A Blanco;MJ Blok;MA Caligo;C Chatfield;F Couch;O Diez;L Fachal;L Guidugli;S Gutiarrez Enriquez;T Hansen;C Houdayer;S Imrie;A Lafferty;C Lazaro;M Menandez;M Montagna
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
24.Design considerations for massively parallel sequencing studies of common familial cancers

机译：常见家族性癌症的大规模平行测序研究的设计注意事项
- 作者：BJ Feng;SV Tavtigian;MC Southey;DE Goldgar
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
25.Rehabilitating the sick role: post-surgical experiences of high risk women who undergo risk reducing mastectomy

机译：康复病的作用：接受风险降低乳腺切除术的高风险妇女的术后经验
- 作者：N Hallowell;L Heiniger;B Baylock;M Price;P Butow;kConFab Psychosocial Group;kConFab Investigators
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
26.Referral of Queensland women with endometrial cancer to genetic services

机译：昆士兰州患有子宫内膜癌的妇女转介基因服务
- 作者：YY Tan;J McGaughran;A Obermair;A Spurdle
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
27.Identification of patients at high risk of negative psychological consequences associated with BRCA1 mutation

机译：确定与BRCA1突变相关的负性心理后果的高风险患者
- 作者：S Ertma?ski;K Metcalfe;J Trempa?a;M G?owacka;J Lubi?ski;S Narod;J Gronwald
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla1期
28.Looking for RED FLAGS: identifying and supporting patients at risk of adverse psychological responses to genetic counselling and testing

机译：寻找红色标志：识别和支持有可能对遗传咨询和测试产生不良心理反应的患者
- 作者：S Buscombe
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
29.Zinc and breast cancer risk

机译：锌和乳腺癌的风险
- 作者：Katarzyna Kaczmarek;Anna Jakubowska;Grzegorz Sukiennicki;Magdalena Muszy?ska;Katarzyna Jaworska-Bieniek;Katarzyna Durda;Tomasz Huzarski;Pablo Serrano-Fernandez;Tomasz Byrski;Jacek Gronwald;Satish Gupta;Jan Lubi?ski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
30.An update of clinical issues from InSIGHT 2011

机译：InSIGHT 2011中的临床问题更新
- 作者：L Lipton
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
31.Targeting oncogenes in advanced melanoma

机译：靶向晚期黑素瘤中的癌基因
- 作者：GA McArthur
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
32.Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

机译：用于错配修复基因变体的临床评估的错义替代的致病性概率估计
- 作者：B Thompson;D Goldgar;C Paterson;M Clendenning;R Walters;S Arnold;M Parsons;M Walsh;J Hopper;M Jenkins;M Greenblatt;D Buchanan;J Young;S Tavtigian;A Spurdle;Colon Cancer Family Registry
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
33.Folic acid and breast cancer risk

机译：叶酸和乳腺癌的风险
- 作者：Katarzyna Durda;Katrzyna Jaworska-Bieniek;Krzysztof K?klewski;Jan Lubi?ski;Anna Jakubowska
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
34.Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance

机译：大肠癌BRAF V600E和MLH1启动子甲基化状态在评估临床意义不明的错配修复基因序列变异中的作用
- 作者：M Parsons;B Thompson;D Goldgar;J Hopper;M Jenkins;D Buchanan;J Young;A Spurdle;Colon Cancer Family Registry
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
35.NBS1 Mutation and prognosis of prostate cancer

机译：NBS1前列腺癌的突变和预后
- 作者：Dominika Woko?orczyk;Wojciech Kluniak;Cezary Cybulski;Jan Lubi?ski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
36.Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

机译：使用生化和细胞分析确定错配修复基因错义变体的功能重要性
- 作者：Christopher D Heinen;Lene Juel Rasmussen
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第1期
37.Clinical genetics in cancer prevention

机译：预防癌症的临床遗传学
- 作者：Pavel Elsakov
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
38.A genetic journey through cancer: from rarity and family to aspirin and nanowires

机译：癌症的遗传历程：从稀有和家族到阿司匹林和纳米线
- 作者：J Burn
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
39.Audit of adherence to GI screening recommendations for Lynch Syndrome Patients

机译：对Lynch综合征患者遵守GI筛查建议的审核
- 作者：Lucinda Hossack;Omid Zarghom;Gillian Mitchell;Mary Shanahan;Craig Lynch;Alexander Heriot;Alex Boussioutas
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla2期
40.Prostate cancer screening based on genotyping for high risk founder alleles

机译：基于基因分型的高风险创始人等位基因前列腺癌筛查
- 作者：Cezary Cybulski;Dominika Woko?orczyk;Wojciech Kluniak;Jan Lubi?ski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2012年第Suppla4期
41.Expectations and psychological issues before genetic counseling: analysis of distress determinant factors

机译：遗传咨询前的期望和心理问题：痛苦决定因素分析
- 作者：Zelmira Ballatore;Raffaella Bracci;Elena Maccaroni;Lucia Svarca;Francesca Bianchi;Laura Belvederesi;Cristiana Brugiati;Silvia Pagliaretta;Alberto Murrone;Federica Bini;Mirco Pistelli;Giulia Ricci;Rossana Berardi
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Genetic counselingHNPCCHBOCPsychological distressGenetic test;
42.Development and validation of next generation sequencing based 35-gene hereditary cancer panel

机译：基于35-基因遗传癌组的下一代测序的开发与验证
- 作者：Wing Chan;Mianne Lee;Zhen Xuan Yeo;Dingge Ying;Keith A. Grimaldi;Craig Pickering;Michael M. S. Yang;Senthil K. Sundaram;Lawrence C. H. Tzang
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Hereditary cancerNext generation sequencingMultigene panel testingAnalytical validationGenetic testing;
43.Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer

机译：DNA损伤修复患者的结果回顾性审查相关胰腺癌
- 作者：Sarah K. Macklin-Mantia;Stephanie L. Hines;Pashtoon M. Kasi
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Hereditary cancerPancreatic cancerPlatinum chemotherapyPARP inhibitorsBRCA1/2Genetic testing;
44.Polymorphisms in MMP-1 , MMP-2 , MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population

机译：MMP-1，MMP-2，MMP-7，MMP-13和MT2A中的多态性对波兰人群的乳腺癌，肺和结肠癌风险没有导致乳腺癌，肺和结肠癌风险
- 作者：Katarzyna Bia?kowska;Wojciech Marciniak;Magdalena Muszyńska;Piotr Baszuk;Satish Gupta;Katarzyna Jaworska-Bieniek;Grzegorz Sukiennicki;Katarzyna Durda;Tomasz Gromowski;Marcin Lener;Karolina Prajzendanc;Alicja ?ukomska;Cezary Cybulski;Tomasz Huzarski;Jacek Gronwald;Tadeusz D?bniak;Jan Lubiński;Anna Jakubowska
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Prostate cancerMatrix metalloproteinasesMetallothioneinsPolymorphisms;
45.Informing patients about their mutation tests: CDKN2A c.256GA in melanoma as an example

机译：向患者通知其突变试验：黑色素瘤中的CDKN2A C.256G>作为示例
- 作者：Kari Hemminki;Aayushi Srivastava;Sivaramakrishna Rachakonda;Obul Bandapalli;Eduardo Nagore;Akseli Hemminki;Rajiv Kumar
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Genetic counselingMelanoma suppressor geneFunctionalityDeleteriousness;
46.Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study

机译：高危乳腺癌患者中BRCA检测遵守国家综合癌症网络指南：回顾性图表审查研究
- 作者：Priyanka Bobbili;Temitope Olufade;Maral DerSarkissian;Rahul Shenolikar;Hong Yu;Mei Sheng Duh;Nadine Tung
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Breast cancerBRCA variantBRCA testingNCCN guidelinesGenetic testing;
47.Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients

机译：一级亲属对瑞典胃癌患者的子宫癌风险增加
- 作者：Johanna Samola Winnberg;Eva Rudd;Anne Ker?nen;Kristina Lagerstedt-Robinson;Annika Lindblom;Magnus Nilsson;Mats Lindblad;Krister Sj?dahl
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Gastric cancerGenetic predisposition to diseaseSwedenUterine cancerNeoplastic syndromesHereditary;
48.A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

机译：APC中断拼接中的罕见的密码变种，并在两个丹麦家庭中导致AFAP
- 作者：Malene Djursby;Karin Wadt;Jane Hübertz Frederiksen;Majbritt Busk Madsen;Lukas Adrian Berchtold;Jane Preuss Hasselby;Gro Linno Willemoe;Thomas v. O. Hansen;Anne-Marie Gerdes
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- APCMissense variantSplicingPolyposisAdenocarcinomaColorectal cancer;
49.An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube

机译：有趣的案例可能是BRCA2相关的双侧乳腺癌，在输卵管的抑制部分中具有转移
- 作者：Lu?ka Bolte?ar;Gorana Ga?ljevi?;Srdjan Novakovi?;Vida Stegel;Erik ?kof
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Breast cancerBRCA2OligometastaticFimbrial part of fallopian tubeReceptor conversion;
50.The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care

机译：预期林奇综合征数据库报告可启用基于证据的个人精密保健
- 作者：P?l M?ller
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Inherited cancerMLH1MSH2MSH6PMS2Prospective studyLynch syndromePenetranceExpressivityCumulative incidenceGenderPersonalized medicinePrecision medicineEvidence based medicine;
51.Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review

机译：BRCA1 / 2致病种系基因变异妇女饮食，体重管理，身体活动和卵巢癌风险：系统评价
- 作者：Adriana M. Coletta;Susan K. Peterson;Leticia A. Gatus;Kate J. Krause;Susan M. Schembre;Susan C. Gilchrist;Banu Arun;Y. Nancy You;Miguel A. Rodriguez-Bigas;Larkin L. Strong;Karen H. Lu;Karen Basen-Engquist
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- BRCABreast CancerOvarian CancerDietPhysical activityWeight;
52.Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: proof-of-concept of the role of APC protein in neurocognitive function

机译：家族性腺瘤性息肉症的无处不染的神经认知功能障碍：APC蛋白在神经认知功能中的作用概念
- 作者：Marcia Roxana Cruz-Correa;Ana Cecilia Sala;Beatriz Cintrón;Jessica Hernández;Myrta Olivera;Adrian Cora;Constance M. Moore;Carlos A. Luciano;Marievelisse Soto-Salgado;Francis M. Giardiello;Stephen R. Hooper
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Familial adenomatous polyposisNeurocognitionHispanicsFAP;
53.Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction

机译：Group Plus“Mini”个人预先测试遗传咨询遗传咨询遗传咨询疾病缩短提供商时间，提高患者满意度
- 作者：Jaclyn Hynes;Andrée MacMillan;Sara Fernandez;Karen Jacob;Shannon Carter;Sarah Predham;Holly Etchegary;Lesa Dawson
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Genetic counselingInherited cancersHereditary breast ovarianLynch syndrome;
54.Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

机译：在具有临床可操作的种系TP53变体的载体监测程序中的全身MRI - 瑞典宪法TP53研究SWEP53
- 作者：Meis Omran;Lennart Blomqvist;Yvonne Brandberg;Niklas Pal;Per Kogner;Anne Kinhult St?hlbom;Emma Tham;Svetlana Bajalica-Lagercrantz
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- LiFraumeni syndromeGermline TP53 mutationHereditary breast cancerPathological variantSurveillance program;
55.Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation

机译：年轻患者中的同赤鳞状细胞癌作为唯一呈现出林氏综合征的症状与MLH1种系突变
- 作者：Karam Khaddour;Ryan C. Fields;Michael Ansstas;Ilana S. Rosman;George Ansstas
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Lynch syndromeCutaneous squamous cell carcinomaGermline mutationMLH1PembrolizumabMicrosatellite instability;
56.An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia

机译：深入探索亚洲BRCA1和BRCA2致病变体载体的测试后信息需求
- 作者：Jeanette Yuen;Si Ming Fung;Chin Leong Sia;Mallika Venkatramani;Tarryn Shaw;Eliza Courtney;Shao-Tzu Li;Jianbang Chiang;Veronique Kiak-Mien Tan;Benita Kiat-Tee Tan;Joanne Ngeow
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- BRCA1/2Informational needsInterviewOnlineGenetic awareness;
57.Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau disease: implications for treatment

机译：中枢神经系统血管素母细胞瘤中的生物学和临床影响中国常规血磷 - 芩劳疾病患者：治疗含义
- 作者：Zhen Liu;Liang Li;Zhiqiang Yi;Hongzhou Duan;Runchun Lu;Chunwei Li;Lei Li;Kan Gong
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- VHL genetic syndromeGenetic mutationHemangioblastoma surgical treatmentGenetic anticipation;
58.Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation

机译：患有BRCA1或BRCA2突变的女性中乳腺癌预防的偏好
- 作者：Carol A. Mansfield;Kelly A. Metcalfe;Carrie Snyder;Geoffrey J. Lindeman;Joshua Posner;Sue Friedman;Henry T. Lynch;Steven A. Narod;D. Gareth Evans;Alexander Liede
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- BRCA1BRCA2High-risk womenRisk-reducing surgeriesPreventionSurveyPreferencesChoicesUnaffected womenInternational study;
59.Patients with unexplained mismatch repair deficiency are interested in updated genetic testing

机译：未解释的不匹配修复缺乏患者对更新的遗传测试感兴趣
- 作者：Jessica Omark;Eduardo Vilar;Y Nancy You;Leslie Dunnington;Sarah Noblin;Blair Stevens;Maureen Mork
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- CancerGenetic counselingGenetic testingLynch syndromeMismatch repair deficiencyOncologyPsychosocial impacts of genetic testingUnexplained mismatch repair deficiencyUpdated genetic testing;
60.Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

机译：公众支持医疗保健介导的遗传性癌症风险信息：瑞典人口调查结果
- 作者：Andreas Andersson;Carolina Hawranek;Anna ?fverholm;Hans Ehrencrona;Kalle Grill;Senada Hajdarevic;Beatrice Melin;Emma Tham;Barbro Numan Hellquist;Anna Rosén
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Hereditary cancerFamily disclosureInforming relativesHealthcare disclosurePublic opinionRisk informationCancer preventionColorectal cancer;
61.BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population

机译：BRCA1创始人突变对波兰人群的胃癌风险增加没有导致胃癌的风险增加
- 作者：Ma?gorzata ?awniczak;Anna Jakubowska;Andrzej Bia?ek;Jan Lubiński;Katarzyna Jaworska–Bieniek;Katarzyna Kaczmarek;Teresa Starzyńska
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Gastric CancerOvarian CancerMutation CarrierGastric Cancer PatientBRCA2 Mutation;
62.Syndromic gastrointestinal stromal tumors

机译：综合征胃肠道基质肿瘤
- 作者：Riccardo Ricci
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Syndromic GISTHereditary GISTFamilial GISTPDGFRA-mutant syndromeCarney’s triadCarney-Stratakis syndromeSuccinate dehydrogenasegermline mutations;
63.Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore

机译：新加坡临床疑似临床障碍患者患者的特征和遗传学检测结果（PGROM细胞瘤（PGL / PCC）综合征
- 作者：Kay Reen Ting;Pei Yi Ong;Samuel Ow Guan Wei;Rajeev Parameswaran;Chin Meng Khoo;Doddabele Srinivasa Deepak;Soo-Chin Lee
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- Hereditary paragangliomaPheochromocytomaGenetic testingSDHBSDHDChinese;
64.Identification of eight novel SDHB , SDHC , SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

机译：丹麦嗜铬细胞瘤/恶作剧患者八个新型SDHB，SDHC，SDHD种系变体的鉴定
- 作者：Marc Bennedb?k;Maria Rossing;?se K. Rasmussen;Anne-Marie Gerdes;Anne-Bine Skytte;Uffe B. Jensen;Finn C. Nielsen;Thomas v. O. Hansen
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- ClassificationGermlineMutationParagangliomaPheochromocytomaSDHBSDHCSDHD;
65.Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

机译：巴基斯坦早期性乳腺癌患者的RECQL种系变种患病率
- 作者：Muhammad Usman Rashid;Noor Muhammad;Faiz Ali Khan;Umara Shehzad;Humaira Naeemi;Naila Malkani;Ute Hamann
- 期刊名称：《Hereditary cancer in clinical practice》 | 2020年第1期
- RECQLGermline variantsBreast cancerPakistan;
66.Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes

机译：多态性与癌症家族史的关系以及BRCA1 / BRCA2基因中种系突变的存在
- 作者：Gabriela C. Fernandes;Rodrigo A. D. Michelli;Cristovam Scapulatempo-Neto;Edenir I. Palmero
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Breast CancerGenetic ModifierGermline MutationBRCA2 GeneHereditary Breast Cancer;
67.Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study

机译：家族性腺瘤患者患者神经心理学和行为参数和脑结构的差异：兄弟配对的研究
- 作者：Ana Sánchez Azofra;Trilokesh D. Kidambi;Rita J. Jeremy;Peggy Conrad;Amie Blanco;Megan Myers;James Barkovich;Jonathan P. Terdiman
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Familial adenomatous polyposis (FAP)Adenomatous polyposis coli (APC)Hereditary colon cancerNeuropsychologyEmotional functioning;
68.Pedigree based DNA sequencing pipeline for germline genomes of cancer families

机译：基于谱系的癌症家庭种系基因组的DNA测序管道
- 作者：Asta F?rsti;Abhishek Kumar;Nagarajan Paramasivam;Matthias Schlesner;Calogerina Catalano;Dagmara Dymerska;Jan Lubinski;Roland Eils;Kari Hemminki
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- MutationFamily-basedGermline geneticsGenetic risk factors;
69.Assessing biases of information contained in pedigrees for the classification of BRCA -genetic variants: a study arising from the ENIGMA analytical working group

机译：评估群体中包含的信息偏差，用于BRCA-Genetic变体的分类：eNigma分析工作组产生的研究
- 作者：C. H. H. Kerkhofs;A. B. Spurdle;P. J. Lindsey;D. E. Goldgar;E. B. Gómez-García
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- BRCA1/2Variant classification modelsFamily historyVariants of uncertain clinical significanceIntake pedigrees;
70.When is a mutation not a mutation: the case of the c.594-2AC splice variant in a woman harbouring another BRCA1 mutation in trans

机译：突变什么时候不突变：C.594-2A> C的含量在讨论另一个BRCA1突变的妇女中的C.594-2A> C剪接变体
- 作者：Michelle Wong-Brown;Mary McPhillips;Margaret Gleeson;Allan D. Spigelman;Cliff J. Meldrum;Susan Dooley;Rodney J. Scott
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- BRCA1 mutationsBi-allelicIsoformsSplice site;
71.Prevalence of the CHEK2 R95* germline mutation

机译：Chek2 R95 *种系突变的患病率
- 作者：Stian Knappskog;Beryl Leirvaag;Liv B. Gansmo;P?l Romundstad;Kristian Hveem;Lars Vatten;Per E. L?nning
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Breast CancerGermline MutationTP53 MutationSingle Amino Acid SubstitutionNorwegian Population;
72.Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study

机译：使用全基因组测序对高危乳腺癌基因进行未选择群体的影响：一种造型研究
- 作者：Charlotte Warren-Gash;Mark Kroese;Hilary Burton;Paul Pharoah
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Whole genome sequencingSecondary findingsBRCA1BRCA2Unselected populations;
73.Thank you to all our manuscript reviewers in 2015

机译：感谢您在2015年的所有手稿审稿人员
- 作者：Jan Lubinski;Rodney J. Scott;Rolf Sijmons;Sarah M. Theissen
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
74.Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer

机译：在接受癌症遗传咨询的患者中为一个非常早期发病上皮癌癌症的患者中的两种新序列变体
- 作者：Matilde Pensabene;Caterina Condello;Chiara Carlomagno;Sabino De Placido;Raffaella Liccardo;Francesca Duraturo
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- MSH2 germ-line mutationCancer genetic counselingHereditary ovarian cancerLynch syndrome;
75.A novel deleterious c.2656GT MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

机译：一种新型有害C.2656G> Pakistani家族的种系突变，具有遗传性乳腺癌和卵巢癌的表型重叠和卵巢癌和林奇综合征
- 作者：Muhammad U. Rashid;Humaira Naeemi;Noor Muhammad;Asif Loya;Muhammed A. Yusuf;Jan Lubiński;Anna Jakubowska;Ute Hamann
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- HNPCCLSMSH2Endometrial cancerHereditary breast and ovarian cancerPakistan;
76.Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland

机译：BRCA1，BRCA2和PALB2在波兰南部乳腺癌患者群中的BRCA1，BRCA2和PALB2的复发突变
- 作者：P. Wojcik;M. Jasiowka;E. Strycharz;M. Sobol;D. Hodorowicz-Zaniewska;P. Skotnicki;T. Byrski;P. Blecharz;E. Marczyk;I. Cedrych;J. Jakubowicz;J. Lubiński;V. Sopik;S. Narod;P. Pierzchalski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- BRCA1BRCA2PALB2Breast cancerOvarian cancer;
77.An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

机译：与甘蓝核病症相关的大牛顿综合征的一个不寻常的情况
- 作者：Steffen Pistorius;Barbara Klink;Jessica Pablik;Andreas Rump;Daniela Aust;Marlene Garzarolli;Evelin Schr?ck;Hans K. Schackert
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Ganglioneuromatous polyposisColon cancerCowden syndromePTEN germline mutation;
78.PALB2: research reaching to clinical outcomes for women with breast cancer

机译：PALB2：患有乳腺癌妇女的临床结果的研究
- 作者：Melissa C. Southey;Ingrid Winship;Tú Nguyen-Dumont
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- PALB2Breast cancer susceptibilityCancer susceptibilityFamilial cancer;
79.Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality

机译：BRCA2突变载体中的强烈乳腺筛选与乳腺癌特异性降低有关，所有原因死亡率
- 作者：D. G. Evans;E. F. Harkness;A. Howell;M. Wilson;E. Hurley;M. M. Holmen;K. U. Tharmaratnam;A. I. Hagen;Y. Lim;A. J. Maxwell;P. Moller
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Breast cancerMammographyMRIBRCA2SurvivalKaplan-meier;
80.Cytotoxic and targeted therapy for hereditary cancers

机译：世袭癌症的细胞毒性和靶向治疗
- 作者：Aglaya G. Iyevleva;Evgeny N. Imyanitov
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Hereditary cancer syndromesFamilial cancerBreast cancerOvarian cancerColorectal cancerCytotoxic therapyTargeted therapyPredictive markersBRCA1BRCA2;
81.Prognostic factors in Polish patients with BRCA1 -dependent ovarian cancer

机译：波兰语患者BRCA1依赖性卵巢癌的预后因素
- 作者：Wiktor Szatkowski;Pawe? Blecharz;Jerzy W. Mitu?;Marek Jasiówka;El?bieta ?uczyńska;Jerzy Jakubowicz;Tomasz Byrski
- 期刊名称：《Hereditary cancer in clinical practice》 | 2016年第1期
- Ovarian cancerBRCA1Prognostic factors;

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