Results 51 to 60 of about 39,162 (280)

Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers

Frontiers in Oncology, 2021
BackgroundBreast cancer is the world’s most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed with advanced-stage disease and have no access ...
Yosr Hamdi, Yosr Hamdi, Najah Mighri, Maroua Boujemaa, Nesrine Mejri, Nesrine Mejri, Sonia Ben Nasr, Sonia Ben Nasr, Mariem Ben Rekaya, Mariem Ben Rekaya, Olfa Messaoud, Hanen Bouaziz, Hanen Bouaziz, Yosra Berrazega, Haifa Rachdi, Olfa Jaidane, Nouha Daoud, Aref Zribi, Jihene Ayari, Houda El Benna, Houda El Benna, Soumaya Labidi, Soumaya Labidi, Jamel Ben Hassouna, Abderazzek Haddaoui, Khaled Rahal, Farouk Benna, Ridha Mrad, Slim Ben Ahmed, Hamouda Boussen, Hamouda Boussen, Samir Boubaker, Samir Boubaker, Sonia Abdelhak   +33 more
doaj   +1 more source

Pathology of Hereditary Breast and Ovarian Cancer

Frontiers in Oncology, 2020
Hereditary breast and ovarian cancer (HBOC) syndrome is most commonly characterized by deleterious germline mutations in BRCA1 and BRCA2. HBOC patients are prone to the development of malignant neoplasms in multiple organs including the breast, ovary ...
Anjelica J. Hodgson, G. Turashvili
semanticscholar   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

A family history of breast cancer will not predict female early onset breast cancer in a population-based setting [PDF]

, 2008
: BACKGROUND: An increased risk of breast cancer for relatives of breast cancer patients has been demonstrated in many studies, and having a relative diagnosed with breast cancer at an early age is an indication for breast cancer screening.
de Bock, Geertruida H.; id_orcid, Seynaeve, C., Krol-Warmerdam Elly MM, Blom Jannet, de Bock, G.H., Cornelisse, C.J., Blom, Jannet, de Bock, GH, Brekelmans, C.T., Asperen, C.J. (Christi) van, Klijn, J.G., Jacobi, Catharina E., Houwelingen, J.C. van, van Asperen Christi J, Krol-Warmerdam, Elly M. M., Devilee, P, Brekelmans, C.T. (Cecile), Brekelmans Cecile TM, Klijn, Jan G. M., de Bock Geertruida H, Krol-Warmerdam, E.M., Krol-Warmerdam, EMM, van Asperen, C.J., Blom, J. (Jannet), Cornelisse Cees J, Jacobi, C.E., Tollenaar Rob AEM, Cornelisse, Cees J., Krol-Warmerdam, E.M.M. (Elly), Tollenaar, R.A., Seynaeve, C.M. (Caroline), Jacobi, CE, Tollenaar, R.A.E.M. (Rob), de Bock, Geertruida H., Blom, J., van Houwelingen, JC, Tollenaar, Rob A. E. M., van Asperen, Christi J., Brekelmans, CTM (Cecile), Bock, G.H. (Geertruida) de, van Asperen, CJ, Klijn Jan GM, van Houwelingen Johannes C, Devilee, Peter, Seynaeve Caroline, Brekelmans, Cecile T. M., Seynaeve, Caroline, Devilee Peter, Klijn, J.G.M. (Jan), Jacobi Catharina E, van Houwelingen, J.C., Klijn, Jan, Jacobi, C.E. (Catharina), Devilee, P. (Peter), Tollenaar, RAEM, Devilee, P., Cornelisse, C.J. (Cees), van Houwelingen, Johannes C., Blom, J, Cornelisse, CJ   +59 more
core   +2 more sources

Response to Carboplatin and Paclitaxel in the treatment of hereditary breast ovarian cancer syndrome (HBOC): a case report

Journal of the Pakistan Medical Association
The co-occurrence of primary breast cancer and primary ovarian cancer is an exceptional hereditary phenomenon and results from inherent mutations in critical genes like BRCA1/2, PALB2, TP53, CHEK1, and ATM.
Faisal Mehmood, Mumtaz Touseef, Amna Ashraf, Izza Ali Rai   +3 more
doaj   +1 more source

The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review)

Креативная хирургия и онкология, 2020
The prevention of malignant neoplasms in a healthy population is a priority task of national healthcare systems.  Population screening and genetic counselling programmes allow identification of not only precancerous conditions,  but also a genetic ...
O. N. Lipatov, K. T. Akhmetgareeva
doaj   +1 more source

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

BMC Medical Genomics, 2020
The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern.
Simone da Costa e Silva Carvalho, N. M. Cury, D. B. Brotto, L. D. de Araújo, R. C. A. Rosa, Lorena Alves Texeira, J. Plaça, A. Marques, K. C. Peronni, Patrícia De Cássia Ruy, G. Molfetta, J. Moriguti, D. Carraro, E. Palmero, P. Ashton-Prolla, V. E. de Faria Ferraz, W. A. Silva   +16 more
semanticscholar   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer [PDF]

, 2004
Background: We describe a multistep model of cancer genetic counselling designed to promote awareness, and disease surveillance and preventive measures for hereditary and familial breast and ovarian cancer.
SILINGARDI, Vittorio, CORTESI L., RICEVUTO E., CAPUANO I., FEDERICO M., VENUTA S., CONTEGIACOMO A., Capuano I, Cortesi L, Contegiacomo A, Marchetti P, Pensabene M, MARCHETTI, PAOLO, Ricevuto E, SILINGARDI V, Cianci G, BARBIERI, Viola, TURCHETTI, DANIELA, Venuta S, FEDERICO M, PENSABENE M., TAUCHMANOVA L., FEDERICO, Massimo, CIANCI G., Tauchmanova L, ITALIAN NETWORK ON HEREDITARY BREAST CANCER, BARBIERI V, Turchetti D, MARCHETTI P., ON BEHALF OF THE ITALIAN NETWORK ON HEREDITARY BREAST CANCER, SILINGARDI V.   +30 more
core   +1 more source

Inhibition of cyclin‐dependent kinases 12/13 using CT7439 as a treatment for colorectal cancer with CDK12 upregulation

Molecular Oncology, EarlyView.
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington, Divya L. Dayanidhi, Mohammad Zokaasadi, John B. Mantyh, Pelumi D. Olawuni, Gabrielle Rupprecht, Jeremy M. Force, Shannon McCall, Ashwani K. Bahl, David S. Hsu, Jason A. Somarelli   +10 more
wiley   +1 more source