Results 61 to 70 of about 340,349 (250)

BRCA1/BRC-1 and SMC-5/6 regulate DNA repair pathway engagement during Caenorhabditis elegans meiosis

eLife
The preservation of genome integrity during sperm and egg development is vital for reproductive success. During meiosis, the tumor suppressor BRCA1/BRC-1 and structural maintenance of chromosomes 5/6 (SMC-5/6) complex genetically interact to promote high
Erik Toraason, Alina Salagean, David E Almanzar, Jordan E Brown, Colette M Richter, Nicole A Kurhanewicz, Ofer Rog, Diana E Libuda   +7 more
doaj   +1 more source

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]

, 2019
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir, Chaudhary, Uzair, Delozier, Celia Dawn   +2 more
core  

Secondary somatic mutations restoring RAD51C and RAD51D associated with acquired resistance to the PARP inhibitor rucaparib in high-grade ovarian carcinoma [PDF]

, 2017
High-grade epithelial ovarian carcinomas (OC) containing mutated BRCA1 or BRCA2 (BRCA1/2) homologous recombination (HR) genes are sensitive to platinum-based chemotherapy and poly(ADP-ribose) polymerase inhibitors (PARPi), while restoration of HR ...
Barker, Holly, Bernstein, Kara A., Botwell, David D.L., Brunette, Gregory J., Coleman, Robert L., Floquet, Anna, Friedlander, Michael, Giordano, Heidi, Harding, Thomas C., Harrell, Maria I., Ho, Gwo-Yaw, Jasin, Maria, Kass, Elizabeth M., Kaufmann, Scott H., Kichenadasse, Ganessan, Kondrashova, Olga, Kuiper, Michael J., Lin, Kevin K., Maloney, Lara, McNeish, Iain A., Nguyen, Minh, O'Malley, David M., Oza, Amit M., Prakash, Rohit, Raponi, Mitch, Robillard, Liliane, Scott, Clare L., Shield-Artin, Kirsty, Simmons, Andrew D., Sullivan, Meghan R., Sun, James X., Swisher, Elizabeth M., Teng, Nelson N.H., Tinker, Anna V., Wakefield, Matthew J.   +34 more
core   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Case report: Salivary duct carcinoma in a patient with a germline CDH1 pathogenic variant - expanding the spectrum of hereditary cancer predisposition syndromes

Frontiers in Oncology
IntroductionRecently, an entity known as salivary duct carcinoma with rhabdoid features (SDC-RF) has been associated with somatic CDH1 mutations. Here we present the first known case report of conventional SDC occurring in the setting of a germline CDH1 ...
Nidhi Desai, Emilian Racila, Naomi Fujioka, Arjun Gupta, Emmanuel S. Antonarakis   +4 more
doaj   +1 more source

Looking below the surface in plants

eLife, 2020
A new way to culture and image flowers is uncovering the processes that take place in reproductive cells buried deep in plants.
Rui Wang, Anna A Dobritsa
doaj   +1 more source

Germline Cas9 expression yields highly efficient genome engineering in a major worldwide disease vector, Aedes aegypti. [PDF]

, 2017
The development of CRISPR/Cas9 technologies has dramatically increased the accessibility and efficiency of genome editing in many organisms. In general, in vivo germline expression of Cas9 results in substantially higher activity than embryonic injection.
Akbari, Omar S, Bowman, Christian S, Bui, Michelle, Li, Ming, White, Bradley J, Yang, Ting   +5 more
core   +1 more source

Characteristics of Germline and Non-germline Retinoblastomas.

Journal of ophthalmic & vision research, 2014
To discuss the clinical characteristics, treatment and outcomes of germline and non-germline retinoblastoma tumors.A retrospective study was performed on retinoblastoma cases from 1979 to 2007. General characteristics of the patients, treatment modalities, histopathological findings and survival were compared in germline versus non-germline cases.We ...
Fariba Ghassemi, Hormoz Chams, Siamak Sabour, Reza Karkhaneh, Farzad Farzbod, Mehdi Khodaparast, Parvaneh Vosough   +6 more
openaire   +2 more sources

Epigenetics and the germline [PDF]

Reproduction, 2005
Epigenetic processes affect three stages of germline development, namely (1) specification and formation of primordial germ cells and their germline derivatives through lineage-specific epigenetic modifications, in the same manner as other embryonic lineages are formed, (2) a largely genome-wide erasure and re-establishment of germline-specific ...
Cinzia, Allegrucci, Alexandra, Thurston, Emma, Lucas, Lorraine, Young   +3 more
openaire   +2 more sources

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source