Search Results - "Germline"

Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? by Semiramis L. Carbajal-Mamani, Merry J. Markham, Joaquín Santolaya-Forgas, Jacqueline C. Castagno, Joel Cardenas-Goicoechea

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Multiple germline sequence variants with potential cancer risk uncovered by exome sequencing in an anatomic lab donor cadaver with multiple cancer lesions by Jessica Liang, Arben Santo, Peter Samuel, Lin Kang, Katherine Salim, Tiffany Carpenetti, Ramu Anandakrishnan, Pawel Michalak, Harold Garner, Robin T. Varghese

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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report by Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu

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Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child‐care consultations by Maria J. Mastellaro, Raul C. Ribeiro, Antônio G. Oliveira‐Filho, Ana L. Seidinger, Izilda A. Cardinalli, Eliana C.M. Miranda, Simone S. Aguiar, Silvia R. Brandalise, José A. Yunes, Antônio A. Barros‐Filho

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Reply to Dr. Witjes regarding universal tumor genomic sequencing as a prescreen for germline genetic testing in patients diagnosed with ovarian cancer by Jenny Lin, Melissa K. Frey

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Targeting a highly repeated germline DNA sequence for improved real-time PCR-based detection of Ascaris infection in human stool. by Nils Pilotte, Jacqueline R M A Maasch, Alice V Easton, Eric Dahlstrom, Thomas B Nutman, Steven A Williams

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Chapter Membrane Dynamics of Spermatozoa during Capacitation: New Insight in Germ Cells Signalling by Ramal Sanchez, Marina

Subjects: “…germline stem cells, spermatozoa, membrane, signalling, fertility…”
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DOAB: description of the publication

Chapter Membrane Dynamics of Spermatozoa during Capacitation: New Insight in Germ Cells Signalling by Ramal Sanchez, Marina

Subjects: “…germline stem cells, spermatozoa, membrane, signalling, fertility…”
OAPEN Library: download the publication
OAPEN Library: description of the publication

Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report by Ying Liu, Jing Zhu, Xiao Wei, Duoxia Yang, Si Li, Xiaoping Qian, Li Li

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Sertoli-Leydig cell tumor associated with a germline DICER1 pathogenic variant diagnosed during pregnancy: Considerations for treatment, surveillance, and prevention by Joyce Y. Wang, Kimberly K. Ma, Daniel J. Reiter, Ana Torvie, Elizabeth M. Swisher

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A Novel Germline Mutation of the APC Gene: A Case Report of Familial Adenomatous Polyposis Requiring Repeated Endoscopic Resections for Gastroduodenal Polyps by Jun Hui Lee, Joon Weon Jang, Byung-Wook Kim, Eun Su Park, Sang Yong Kim

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population by Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr

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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing by Donavan T. Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E. Robson, Kenneth Offit, Michael F. Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang

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Germline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report by Vera Maria Dantas, Cassandra Teixeira Valle, Roberta Piccin de Oliveira, Mylena Taíse Azevedo L. Bezerra, Cleia Teixeira do Amaral, Raissa Anielle S. Brandão, Jussara M. Cerqueira Maia, Tirzah Braz Petta

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Undifferentiated colonic neoplasm with SMARCA4 germline gene mutation and loss of SMARCA4 protein expression: a case report and literature review by Huanli Duan, Wei Gao, Leiming Wang, Feng Cao, Lianghong Teng

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Facing the conundrum: which first-line therapy should be used for patients with metastatic triple-negative breast cancer carrying germline BRCA mutation? by Sabah Alaklabi, Arya Mariam Roy, Lubna N. Chaudhary, Shipra Gandhi

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Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations by Brooke E. Sanders, Rebecca Wolsky, Elizabeth S. Doughty, Kristen L. Wells, Debashis Ghosh, Lisa Ku, Joseph G. Pressey, Benjamin G. Bitler, Lindsay W. Brubaker

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Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! by Hikmat Abdel-Razeq

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Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report by Tiansong Zhang, Xiaoqiang Huang, Wenjie Liu, Xiulan Ling, Zhenping Su, Mengwei Huang, Shuanlong Che

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GAS5/miR-21 Axis as a Potential Target to Rescue ZCL-082-Induced Autophagy of Female Germline Stem Cells In Vitro by Bo Li, Xiaopeng Hu, Yanzhou Yang, Mingyan Zhu, Jiong Zhang, Yanrong Wang, Xiuying Pei, Huchen Zhou, Ji Wu

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