Results 181 to 190 of about 114,676 (292)

BRCA2 germline mutation carrier with five malignancies: a case report. [PDF]

Hered Cancer Clin Pract
Su E, Christinat Y, McKee T, Azzarello-Burri S, Jochum W, Fischer S, Rothermundt C.   +6 more
europepmc   +1 more source

Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation inBRCA1 [PDF]

, 2015
Ye Won Jeon, Ra Mi Kim, Seung Taek Lim, Hyun Joo Choi, Young Jin Suh   +4 more
openalex   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Analysis of Turkish Breast Cancer Patients With ATM-Heterozygous Germline Mutation According to Clinicopathological Features. [PDF]

Cureus, 2023
Ünsal O, Güvercin B, Özet A, Ergün MA.   +3 more
europepmc   +1 more source

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase [PDF]

, 2015
Yoshitatsu Sei, Xilin Zhao, Joanne Forbes, Silke Szymczak, Qing Li, Apurva Trivedi, Mark T. Voellinger, Grishma Joy, Jianying Feng, Millie Whatley, MaryPat Jones, Ursula L. Harper, Stephen J. Marx, Aradhana M. Venkatesan, Settara C. Chandrasekharappa, Mark Raffeld, Martha Quezado, Adeline Louie, Clara C. Chen, Ramona M. Lim, Richa Agarwala, Alejandro A. Schäffer, Marybeth S. Hughes, Joan E. Bailey‐Wilson, Stephen A. Wank   +24 more
openalex   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

The Evolutionary Interplay of Somatic and Germline Mutation Rates. [PDF]

Annu Rev Biomed Data Sci
Beichman AC, Zhu L, Harris K.
europepmc   +1 more source

Population Pharmacokinetics Analysis of Talazoparib and Enzalutamide Combination Therapy for Patients With Metastatic Castration‐Resistant Prostate Cancer

The Journal of Clinical Pharmacology, EarlyView.
Abstract The poly(ADP‐ribose) polymerase inhibitor talazoparib, combined with the androgen receptor inhibitor enzalutamide is approved for patients with homologous recombination repair (HRR) gene‐mutated metastatic castration‐resistant prostate cancer (mCRPC) in the US and with mCRPC in whom chemotherapy is not clinically indicated in Europe.
Mark Hadigol, Jason H. Williams, Haihong Shi, Derek Z. Yang, Justin Hoffman, Diane D. Wang   +5 more
wiley   +1 more source

Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient. [PDF]

Front Oncol
Griesler B, Schulze S, Kegel T, Dierks C, Villavicencio-Lorini P, Eszlinger M, Al-Ali HK, Jaekel N.   +7 more
europepmc   +1 more source

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease

, 2019
Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Qingjiong Zhang   +5 more
openalex   +1 more source