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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

机译：患有非常早期发作乳腺癌的女性乳腺癌基因中可操作致病性变异检测的高可能性

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D Gareth Evans; Elke Maria van Veen; Helen J Byers; Sarah J Evans; George J Burghel; Emma Roisin Woodward; Elaine F Harkness; Diana M Eccles; Stephanie L Greville-Haygate; Jamie M Ellingford; Naomi L Bowers; Marta Pereira; Andrew J Wallace; Sasha J Howell; Anthony Howell; Fiona Lalloo; William G Newman; Miriam Jane Smith;
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1. Pathogenic and likely pathogenic variants in PALB2 PALB2 , CHEK2 CHEK2 , and other known breast cancer susceptibility genes among 1054 BRCA BRCA ‐negative Hispanics with breast cancer [J] . Weitzel Jeffrey N., Neuhausen Susan L., Adamson Aaron, Cancer: A Journal of the American Cancer Society . 2019,第16期

机译：患有乳腺癌的1054 BRCA BRCA-Negative西班牙裔儿子癌症中Palb2 palb2，Cheb2，Cheb2，Cheb2，Cheb2和其他已知的乳腺癌敏感性基因的病原和可能的致病变异
2. Triple-negative breast cancer and PTEN (phosphatase and tensin homologue)loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer [J] . Sze-Yee Phuah, Lai-Meng Looi, Norhashimah Hassan, Breast Cancer Research . 2012,第6期

机译：三重阴性乳腺癌和PTEN（磷酸酶和硫脲和抗素同源物）损失是早熟和家族性乳腺癌妇女BRCA1种系突变的预测因子，但没有患有孤立的晚期乳腺癌的女性
3. Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study) [J] . Kate Packwood, Guy Martland, Matthew Sommerlad, The Journal of Pathology: Clinical Research . 2019,第3期

机译：带有种系TP53致病变异的乳腺癌患者具有典型的肿瘤特征：TP53携带者早期发病乳腺癌的队列研究（COPE研究）
4. Gene-based evidence for burden of rare pathogenic variants in pharmacogenes and oncogens of Czech breast cancer patients [C] . Maria Kovacova, Viktor Hlavac, Veronika Brynychova, IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：基于基因的证据表明捷克乳腺癌患者的药基因和致癌基因中罕见的致病性变异负担
5. Molecular stress signaling in breast epithelial cells: Characterization of the regulation of the breast cancer susceptibility gene 1 (BCRA1) by stress signaling, and, Design of an epidemiological study examining the effect of glucocorticoid receptor genetic variants on breast cancer risk [D] . Antonova, Lilia 2008

机译：乳腺上皮细胞中的分子应激信号传递：通过应激信号传递来表征乳腺癌易感基因1（BCRA1）的调节，以及一项流行病学研究的设计，旨在研究糖皮质激素受体基因变异对乳腺癌风险的影响
6. Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1 BRCA2 and TP53 Genes in Women with Very Early-Onset (36 Years) Breast Cancer [O] . Zerin Hyder, Elaine F. Harkness, Emma R. Woodward, 2020

机译：具有和不具有BRCA1BRCA2和TP53基因致病性变异的女性在极早发病（36岁）的女性中患对侧乳腺癌的风险
7. Pathogenic and likely pathogenic variants in PALB2 , CHEK2 , and other known breast cancer susceptibility genes among 1054 BRCA -negative Hispanics with breast cancer [O] . Jeffrey N. Weitzel, Susan L. Neuhausen, Aaron Adamson, 2019

机译：患有乳腺癌的1054 brca-Nega患者中的Palb2，Chek2和其他已知的乳腺癌敏感基因的病原和可能的致病变异
8. Do Structural Missense Variants in the ATM Gene Found in Women With Breast Cancer Cause Breast Cancer in 'Knock-in' Mouse Strains [R] . Sommer, S. S. 2006

机译：在患有乳腺癌的妇女中发现的aTm基因中的结构错义变异导致“敲入”小鼠品系中的乳腺癌

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

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