Germline variation in DNA damage repair genes in children with cancer: Unveiling SMARCAL1 as novel osteosarcoma predisposition gene [0.03%]
儿童肿瘤中DNA修复基因的胚系变异：揭示了SMARCAL1是新的骨肉瘤易感基因
Ninad Oak,Wenan Chen,Alise Blake et al.
Ninad Oak et al.
Background: Recent large-scale sequencing studies reveal that up to 18% of children with cancer harbor pathogenic variants (PV) in known cancer predisposing genes (CPG). However, many patients exhibit features of an under...
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis [0.03%]
日本女性生殖系变异对乳腺癌和卵巢癌风险的影响：一项原始队列研究和荟萃分析
Shu Yazaki,Megumi Hori,Hisaki Aiba et al.
Shu Yazaki et al.
Background: Pathogenic variants (PVs) of BRCA1 and BRCA2 predispose individuals to a higher risk of breast and ovarian cancer; however, the precise risks posed by other cancer susceptibility genes remain unclear, particul...
Smart non-uniformity: Calibration of sequencing depth of a targeted gene panel to simultaneously detect somatic and germline variants [0.03%]
智能非均匀性：校准靶向基因面板的测序深度以同时检测体细胞和生殖系变异
Robert L O&#x;Reilly,Philip Harraka,Jared Burke et al.
Robert L O&#x;Reilly et al.
Targeted gene panel sequencing that measures genomic variation at different depths has potential diagnostic application. A targeted gene panel was developed to detect 1) somatic variants associated with clonal haematopoiesis of indeterminat...
Factors affecting the implementation of cascade testing of patients with BRCA1 or BRCA2 pathogenic germline variants in Japan [0.03%]
日本BRCA1或BRCA2致病性生殖系变异患者实施级联筛查的影响因素
Yoshimi Kiyozumi,Seiichiro Nishimura,Nobuhiro Kado et al.
Yoshimi Kiyozumi et al.
In clinical management for hereditary cancer patients, risk assessment is needed not only for patients but also for their blood relatives. In people with Hereditary Breast and Ovarian Cancer syndrome (HBOC), benefits are demonstrated by ide...
Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study [0.03%]
通过极端表型研究识别与转移性前列腺癌相关的罕见生殖系变异
Yen-Yi Lin,Hamideh Sharifi Noghabi,Stanislav Volik et al.
Yen-Yi Lin et al.
Background: Studies of germline variants in prostate cancer (PCa) have largely focused on their connections to cancer predisposition. However, an understanding of how heritable factors contribute to cancer progression and...
Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study [0.03%]
基于祖先的子宫癌女性患者中商业实验室合作研究注册库中的致病性生殖系变异体
Caitlin R Johnson,Chinmayi Aryasomayajula,Alex A Francoeur et al.
Caitlin R Johnson et al.
Objective: Uterine cancer (UC) is the most common gynecologic cancer in the United States, and 5-15 % of patients harbor a germline pathogenic variant (gPV) in a cancer predisposition gene. This study aims to characterize...
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation [0.03%]
CAVaLRi：一种快速鉴定诊断性生殖系变异的算法
Robert J Schuetz,Austin A Antoniou,Grant E Lammi et al.
Robert J Schuetz et al.
Clinical exome and genome sequencing (ES/GS) have become indispensable diagnostic tools for rare genetic diseases (RGD). However, the interpretation of ES/GS presents a substantial operational challenge in clinical settings. Test interpreta...
Germline variants in patients from the Iranian hereditary colorectal cancer registry [0.03%]
伊朗遗传性结直肠癌登记患者的生殖系变异
Lena Goshayeshi,Saeed Hoorang,Benyamin Hoseini et al.
Lena Goshayeshi et al.
Background and aim: Hereditary cancer syndromes account for 6-10% of all colorectal cancer (CRC) cases and 20% of early-onset CRC. Identifying novel pathogenic germline variants can impact genetic testing, counseling, and...
Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes [0.03%]
中国乳腺癌患者生殖系变异分析揭示同源重组基因存在大量改变
Zhaoyun Jiang,Bing Xu,Bo Sun et al.
Zhaoyun Jiang et al.
Purpose: We aimed to identify the pathogenic variants of homologous recombination (HR) genes and analyze the correlation between the pathogenic variants and clinical characteristics in Chinese breast cancer patients. ...
Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome who had uterine and ovarian cancer [0.03%]
林奇综合症患者同时存在MLH1和MSH6的生殖细胞变异并患有子宫癌和卵巢癌
Sho Umegaki,Masanobu Takahashi,Junko Hasegawa-Minato et al.
Sho Umegaki et al.
Lynch syndrome is an autosomal dominant disorder caused by a heterozygous pathogenic germline variant in mismatch repair (MMR) genes including MLH1, MSH2, MSH6, PMS2, and EPCAM. This disease often causes a familial cluster of patients with ...
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