Search Results - "Garcia‐Gomez, B."

Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction by Heemskerk-Gerritsen, B A M, Seynaeve, C, van Asperen, C J, Ausems, M G E M, Collée, J M, van Doorn, H C, Gomez Garcia, E B, Kets, C M, van Leeuwen, F E, Meijers-Heijboer, H E J, Mourits, M J E, van Os, T A M, Vasen, H F A, Verhoef, S, Rookus, M A, Hooning, M J

“…Previous studies have reported a breast cancer (BC) risk reduction of approximately 50% after risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 mutation…”
Get full text

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes by Ruijs, Marielle W G, Verhoef, Senno, Rookus, Matti A, Pruntel, Roelof, van der Hout, Annemarie H, Hogervorst, Frans B L, Kluijt, I, Sijmons, Rolf H, Aalfs, Cora M, Wagner, Anja, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gomez Garcia, Encarna B, Meijers-Heijboer, Hanne, Ten Kate, Leo P, Menko, Fred H, van 't Veer, Laura J

“…BACKGROUND Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria…”
Get more information

Grafts for Peyronie's disease: a comprehensive review by Garcia‐Gomez, B., Ralph, D., Levine, L., Moncada‐Iribarren, I., Djinovic, R., Albersen, M., Garcia‐Cruz, E., Romero‐Otero, J.

“…Summary The difficulty implicit in combining all the characteristics that an ideal patch to treat Peyronie's disease with a lengthening procedure should have,…”
Get full text

Impact of COVID-19 outbreak on urology surgical waiting lists and waiting lists prioritization strategies in the Post-COVID-19 era by García-Rojo, E, Manfredi, C, Santos-Pérez-de-la-Blanca, R, Tejido-Sánchez, Á, García-Gómez, B, Aliaga-Benítez, M, Romero-Otero, J, Rodriguez-Antolín, A

“…The suspension of most elective surgeries during COVID-19 pandemic caused the lengthening of urology surgical waiting lists. The objective of this study is to…”
Get full text

Molecular cloning and nucleotide sequence analysis of genes from a cDNA library of the scorpion Tityus discrepans by D'Suze, Gina, Schwartz, Elisabeth F., García-Gómez, B.I., Sevcik, Carlos, Possani, Lourival D.

“…Tityus discrepans is a Venezuelan scorpion known to cause severe human envenomations. It contains toxins that impair proper ion channels function, affect…”
Get full text

Biochemical and molecular characterization of the venom from the Cuban scorpion Rhopalurus junceus by García-Gómez, B.I., Coronas, F.I.V., Restano-Cassulini, R., Rodríguez, R.R., Possani, L.D.

“…This communication describes the first general biochemical, molecular and functional characterization of the venom from the Cuban blue scorpion Rhopalurus…”
Get full text

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis by Hes, Frederik J, Ruano, Dina, Nieuwenhuis, Marry, Tops, Carli M, Schrumpf, Melanie, Nielsen, Maartje, Huijts, Petra E A, Wijnen, Juul T, Wagner, Anja, Gómez García, Encarna B, Sijmons, Rolf H, Menko, Fred H, Letteboer, Tom G W, Hoogerbrugge, Nicoline, Harryvan, Jan, Kampman, Ellen, Morreau, Hans, Vasen, Hans F A, van Wezel, Tom

“…Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH…”
Get more information

High von willebrand factor levels increase the risk of first ischemic stroke : Influence of ADAMTS13, inflammation, and genetic variability by BONGERS, Tamara N, DE MAAT, Moniek P. M, VAN GOOR, Mary-Lou P. J, BHAGWANBALI, Vinod, VAN VLIET, Huub H. D. M, GOMEZ GARCIA, Encarna B, DIPPEL, Diederik W. J, LEEBEEK, Frank W. G

“…Elevated von Willebrand factor (vWF) concentrations are associated with an increased risk of ischemic heart disease. Several factors influence vWF antigen…”
Get full text

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients by Jansen, Anne M L, Geilenkirchen, Marije A, van Wezel, Tom, Jagmohan-Changur, Shantie C, Ruano, Dina, van der Klift, Heleen M, van den Akker, Brendy E W M, Laros, Jeroen F J, van Galen, Michiel, Wagner, Anja, Letteboer, Tom G W, Gómez-García, Encarna B, Tops, Carli M J, Vasen, Hans F, Devilee, Peter, Hes, Frederik J, Morreau, Hans, Wijnen, Juul T

“…Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer…”
Get full text

Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: A national cohort study by Saadatmand, Sepideh, Vos, Janet R., Hooning, Maartje J., Oosterwijk, Jan C., Koppert, Linetta B., de Bock, Geertruida H., Ausems, Margreet G., van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., Meijers‐Heijboer, Hanne, Hoogerbrugge, Nicoline, Piek, Marianne, Seynaeve, Caroline, Verhoef, Cornelis, Rookus, Matti, Tilanus‐Linthorst, Madeleine M.

“…Annual MRI and mammography is recommended for BRCA1/2 mutation carriers to reduce breast cancer mortality. Less intensive screening is advised ≥60 years,…”
Get full text

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers by Baglietto, Laura, Lindor, Noralane M., Dowty, James G., White, Darren M., Wagner, Anja, Gomez Garcia, Encarna B., Vriends, Annette H. J. T., Cartwright, Nicola R., Barnetson, Rebecca A., Farrington, Susan M., Tenesa, Albert, Hampel, Heather, Buchanan, Daniel, Arnold, Sven, Young, Joanne, Walsh, Michael D., Jass, Jeremy, Macrae, Finlay, Antill, Yoland, Winship, Ingrid M., Giles, Graham G., Goldblatt, Jack, Parry, Susan, Suthers, Graeme, Leggett, Barbara, Butz, Malinda, Aronson, Melyssa, Poynter, Jenny N., Baron, John A., Le Marchand, Loic, Haile, Robert, Gallinger, Steve, Hopper, John L., Potter, John, de la Chapelle, Albert, Vasen, Hans F., Dunlop, Malcolm G., Thibodeau, Stephen N., Jenkins, Mark A.

“…Background Germline mutations in MSH6 account for 10%–20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because…”
Get full text

Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study by Heemskerk-Gerritsen, Bernadette A. M, Hollestelle, Antoinette, van Asperen, Christi J, van den Beek, Irma, van Driel, Willemien J, van Engelen, Klaartje, Gómez Garcia, Encarna B, de Hullu, Joanne A, Koudijs, Marco J, Mourits, Marian J. E, Hooning, Maartje J, Boere, Ingrid A

“…Introduction Germline BRCA1/2 -associated epithelial ovarian cancer has been associated with better progression-free survival and overall survival than…”
Get full text

Analysis of referrals after a synergic work between Primary Care and Urology. Impact of joint protocol implementation and a continuing education program in our healthcare area by García-Rojo, E, Medina-Polo, J, Sopeña-Sutil, R, Guerrero-Ramos, F, García-Gómez, B, Aguilar-Gisbert, L, García-Álvarez, G, Azcutia-Gómez, M R, Gómez-Martín, F, Molero-García, J M, Pereda-Arregui, E, Vargas-Machuca Cabañero, M C, Villacampa-Aubá, F, Tejido Sánchez, Á

“…OBJECTIVETo analyse the evolution and adequacy of referrals from Primary Care to Urology, after the implementation of referral protocols on the most frequent…”
Get full text

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases by Lakeman, Inge M M, Rodríguez-Girondo, Mar D M, Lee, Andrew, Celosse, Nandi, Braspenning, Merel E, van Engelen, Klaartje, van de Beek, Irma, van der Hout, Annemiek H, Gómez García, Encarna B, Mensenkamp, Arjen R, Ausems, Margreet G E M, Hooning, Maartje J, Adank, Muriel A, Hollestelle, Antoinette, Schmidt, Marjanka K, van Asperen, Christi J, Devilee, Peter

“…Common low-risk variants are presently not used to guide clinical management of familial breast cancer (BC). We explored the additive impact of a…”
Get more information

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 by van der Post, Rachel S, Vogelaar, Ingrid P, Manders, Peggy, van der Kolk, Lizet E, Cats, Annemieke, van Hest, Liselotte P, Sijmons, Rolf, Aalfs, Cora M, Ausems, Margreet G.E.M, Gómez García, Encarna B, Wagner, Anja, Hes, Frederik J, Arts, Neeltje, Mensenkamp, Arjen R, van Krieken, J. Han, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L

“…Background & Aims Germline mutations in the cadherin 1, type 1, E-cadherin gene ( CDH1 ) cause a predisposition to gastric cancer. We evaluated the ability of…”
Get full text

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas by Weren, Robbert D.A., Mensenkamp, Arjen R., Simons, Michiel, Eijkelenboom, Astrid, Sie, Aisha S., Ouchene, Hicham, Asseldonk, Monique, Gomez‐Garcia, Encarna B., Blok, Marinus J., Hullu, Joanne A., Nelen, Marcel R., Hoischen, Alexander, Bulten, Johan, Tops, Bastiaan B.J., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L.

“…ABSTRACT With the recent introduction of Poly(ADP‐ribose) polymerase inhibitors, a promising novel therapy has become available for ovarian carcinoma (OC)…”
Get full text

Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers by van der Werf-’t Lam, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje

“…Diagnosis of Lynch syndrome (LS) caused by a pathogenic germline MSH6 variant may be complicated by discordant immunohistochemistry (IHC) and/or by a…”
Get full text

Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome by Werf‐'t Lam, Anne‐Sophie, Rodriguez‐Girondo, Mar, Villasmil, Mandy, Tops, Carli M., Hest, Liselotte, Gille, Hans J. P., Duijkers, Floor A. M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G. W., Jong, Mirjam M., Bajwa‐ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez‐Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje

“…Background This study investigates the potential influence of genotype and parent‐of‐origin effects (POE) on the clinical manifestations of Lynch syndrome (LS)…”
Get full text

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history by Gómez García, Encarna B, Oosterwijk, Jan C, Timmermans, Maarten, van Asperen, Christi J, Hogervorst, Frans B L, Hoogerbrugge, Nicoline, Oldenburg, Rogier, Verhoef, Senno, Dommering, Charlotte J, Ausems, Margreet G E M, van Os, Theo A M, van der Hout, Annemarie H, Ligtenberg, Marjolijn, van den Ouweland, Ans, van der Luijt, Rob B, Wijnen, Juul T, Gille, Jan J P, Lindsey, Patrick J, Devilee, Peter, Blok, Marinus J, Vreeswijk, Maaike P G

“…Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families. Information about…”
Get full text

A novel, possibly functional, single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels by Brouwers, Geert-Jan, Vos, Hans L., Leebeek, Frank W.G., Bulk, Saskia, Schneider, Mark, Boffa, Michael, Koschinsky, Marlys, van Tilburg, Nico H., Nesheim, Michael E., Bertina, Rogier M., Gómez Garcı́a, Encarnación B.

Get full text