Works matching IS 13899600 AND DT 2024 AND VI 23 AND IP 4

Results: 36

MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 569, doi. 10.1007/s10689-024-00423-x
By:
- Shia, Jinru;
- Sanchez-Vega, Francisco;
- Cho, Stanley;
- Chen, Jie-Fu;
- Chen, Chin-Tung;
- Bhanot, Umesh;
- Urganci, Nil;
- Firat, Canan;
- Ntiamoah, Peter;
- Isidro, Raymond A.;
- Srivastava, Amitabh;
- Weiser, Martin R.;
- Mandelker, Diana;
- Vakiani, Efsevia;
- Boland, C. Richard;
- Garcia-Aguilar, Julio;
- Stadler, Zsofia K.
Publication type:
Article
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 563, doi. 10.1007/s10689-024-00422-y
By:
- Bissmeyer, Monica A.;
- Velarde, Angel;
- Salazar, Ana S.;
- Zamorano, Abigail S.
Publication type:
Article
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 617, doi. 10.1007/s10689-024-00421-z
By:
- Mejia Perez, Lady Katherine;
- O'Malley, Margaret;
- Chatterjee, Arjun;
- Lyu, Ruishen;
- Yang, Qijun;
- Cruise, Michael W.;
- LaGuardia, Lisa;
- Liska, David;
- Macaron, Carole;
- Walsh, R. Matthew;
- Burke, Carol A.
Publication type:
Article
Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer.
Published in:
2024
By:
- Suspitsin, Evgeny;
- Eliseyeva, Darya;
- Chiryaeva, Olga;
- Belogubova, Evgeniya;
- Aleksakhina, Svetlana;
- Sokolenko, Anna;
- Imyanitov, Evgeny
Publication type:
Case Study
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 665, doi. 10.1007/s10689-024-00419-7
By:
- Freycon, Claire;
- Palma, Laura;
- Budd, Crystal;
- Coulombe, Frederic;
- Witkowski, Leora;
- Hainaut, Pierre;
- Foulkes, William D.;
- Goudie, Catherine
Publication type:
Article
A dual biomarker in non-small cell lung cancer that predicts Li Fraumeni syndrome: Lung cancer and Li Fraumeni.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 469, doi. 10.1007/s10689-024-00418-8
By:
- Sorscher, Steven
Publication type:
Article
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 653, doi. 10.1007/s10689-024-00411-1
By:
- Segura, Anthony Vladimir Campos;
- da Silva, Sara Iolanda Oliveira;
- Santiago, Karina Miranda;
- Brianese, Rafael Canfield;
- Carraro, Dirce Maria;
- Torrezan, Giovana Tardin
Publication type:
Article
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 599, doi. 10.1007/s10689-024-00416-w
By:
- Frank, Alexander;
- Bernstedt, Sophie Walton;
- Jamizadeh, Nigin;
- Forsberg, Anna;
- Hedin, Charlotte;
- Blom, Johannes;
- Backman, Ann-Sofie
Publication type:
Article
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 607, doi. 10.1007/s10689-024-00415-x
By:
- Karstensen, JG;
- Wewer, MD;
- Bülow, S.;
- Hansen, TVO;
- Højen, H.;
- Jelsig, AM;
- Kuhlmann, TP;
- Burisch, J.;
- Pommergaard, HC
Publication type:
Article
Colonoscopic surveillance in Lynch syndrome: guidelines in perspective.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 459, doi. 10.1007/s10689-024-00414-y
By:
- Castillo-Iturra, Joaquín;
- Sánchez, Ariadna;
- Balaguer, Francesc
Publication type:
Article
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 437, doi. 10.1007/s10689-024-00412-0
By:
- Gootzen, TA;
- Steenbeek, MP;
- van Bommel, MHD;
- IntHout, J;
- Kets, CM;
- Hermens, RPMG;
- de Hullu, JA
Publication type:
Article
A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 551, doi. 10.1007/s10689-024-00417-9
By:
- Howard Sharp, Katianne M.;
- Clark, Mary Egan;
- Jurbergs, Niki;
- Ouma, Annastasia;
- Harrison, Lynn;
- Taylor, Leslie;
- Hamilton, Kayla;
- McGee, Rose B.;
- Nuccio, Regina;
- Hines-Dowell, Stacy;
- Gattuso, Jami S.;
- Pritchard, Michelle;
- Mandrell, Belinda;
- Tercyak, Kenneth P.;
- Johnson, Liza-Marie;
- Nichols, Kim E.
Publication type:
Article
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 583, doi. 10.1007/s10689-024-00410-2
By:
- Enache, Aura;
- Sajjad, Bia;
- Altintas, Burak;
- Giri, Neelam;
- McReynolds, Lisa J.
Publication type:
Article
Correction: Clinician perspectives on policy approaches to genetic risk disclosure in families.
Published in:
2024
By:
- Phillips, Amicia;
- Vears, Danya F.;
- Hoyweghen, Ine Van;
- Borry, Pascal
Publication type:
Correction Notice
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 579, doi. 10.1007/s10689-024-00408-w
By:
- van Riel, L.;
- Kets, C. M.;
- van Hest, L. P.;
- Menko, F. H.;
- Boerrigter, B. G.;
- Franken, S. M.;
- Wolthuis, R. M.F.;
- Dubbink, H. J.;
- Zondervan, P. J.;
- van Moorselaar, R. J.A.;
- Houweling, A. C.;
- van de Beek, I.
Publication type:
Article
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 591, doi. 10.1007/s10689-024-00407-x
By:
- Youngs, Alice;
- Forman, Andrea;
- Elms, Marisa;
- Kohut, Kelly;
- Hlaing, Min Theik;
- Short, John;
- Hanson, Helen;
- Snape, Katie
Publication type:
Article
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.
Published in:
2024
By:
- Yilmaz, Mustafa;
- Bebek, Ogun;
- Colak, Yavuzhan;
- Türkyılmaz, Ayberk
Publication type:
Case Study
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 447, doi. 10.1007/s10689-024-00403-1
By:
- Guerrini-Rousseau, Léa;
- Gallon, Richard;
- Pineda, Marta;
- Brugières, Laurence;
- Baert-Desurmont, Stéphanie;
- Corsini, Carole;
- Dangouloff-Ros, Volodia;
- Gorris, Mark A. J.;
- Haberler, Christine;
- Hoarau, Pauline;
- Jongmans, Marjolijn C.;
- Kloor, Matthias;
- Loeffen, Jan;
- Rigaud, Charlotte;
- Robbe, Julie;
- Vibert, Roseline;
- Weijers, Dilys;
- Wimmer, Katharina;
- Colas, Chrystelle
Publication type:
Article
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 543, doi. 10.1007/s10689-024-00402-2
By:
- Shabet, Christina;
- Kattapuram, Meera;
- Burton, Anna;
- Thoeny, Renata;
- Nielsen, Hailey;
- Accardo, Marie Louise;
- Smith, Emily H.;
- Koeppe, Erika;
- Else, Tobias;
- Cha, Kelly B.
Publication type:
Article
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 647, doi. 10.1007/s10689-024-00400-4
By:
- Sipilä, Lauri J.;
- Aavikko, Mervi;
- Ravantti, Janne;
- Martin, Samantha;
- Kuopio, Teijo;
- Lahtinen, Laura;
- FinnGen;
- Peltomäki, Päivi;
- Mecklin, Jukka-Pekka;
- Aaltonen, Lauri A.;
- Seppälä, Toni T.
Publication type:
Article
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.
Published in:
2024
By:
- Virijevic, M.;
- Marjanovic, I.;
- Andjelkovic, M.;
- Jakovic, Lj;
- Micic, D.;
- Bogdanovic, A.;
- Pavlovic, S.
Publication type:
Case Study
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 429, doi. 10.1007/s10689-024-00398-9
By:
- Witjes, Vera M.;
- Hermkens, Dorien M. A.;
- Swillens, Julie E. M.;
- Smolders, Yvonne H. C. M.;
- Mourits, Marian J. E.;
- Ausems, Margreet G. E. M.;
- de Hullu, Joanne A.;
- Ligtenberg, Marjolijn J. L.;
- Hoogerbrugge, Nicoline
Publication type:
Article
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC): May 23–24, 2023 Rockville, Maryland, United States.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 675, doi. 10.1007/s10689-024-00396-x
Publication type:
Article
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 627, doi. 10.1007/s10689-024-00393-0
By:
- Mouren, Adrien;
- Chansavang, Albain;
- Hamzaoui, Nadim;
- Srikaran, Arunya;
- Laurent-Puig, Pierre;
- Marisa, Laetitia;
- De Percin, Sixtine;
- Lupo, Audrey;
- Larousserie, Frédérique;
- Blons, Hélène;
- L'Haridon, Anais;
- Burnichon, Nelly;
- Pasmant, Eric;
- Tlemsani, Camille
Publication type:
Article
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 531, doi. 10.1007/s10689-024-00391-2
By:
- Arnon, Johnathan;
- Zick, Aviad;
- Maoz, Myriam;
- Salaymeh, Nada;
- Gugenheim, Ahinoam;
- Marouani, MazalTov;
- Mor, Eden;
- Hamburger, Tamar;
- Saadi, Nagam;
- Elia, Anna;
- Ganz, Gael;
- Fahham, Duha;
- Meirovitz, Amichay;
- Kadouri, Luna;
- Meiner, Vardiella;
- Yablonski-Peretz, Tamar;
- Shkedi-Rafid, Shiri
Publication type:
Article
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 523, doi. 10.1007/s10689-024-00387-y
By:
- Mawet, Marie;
- Evrevin, Clémence;
- Dardenne, Antoine;
- Kridelka, Frédéric;
- Pintiaux, Axelle;
- Chabbert-Buffet, Nathalie
Publication type:
Article
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 515, doi. 10.1007/s10689-024-00386-z
By:
- Abdelmaksoud-Dammak, Rania;
- Ammous-Boukhris, Nihel;
- BenAyed-Guerfali, Dorra;
- Gdoura, Yassine;
- Boujelben, Imen;
- Guidara, Souhir;
- Charfi, Slim;
- Boudabbous, Wiem;
- Ammar, Saloua;
- Rhaiem, Wiem;
- Boudawara, Mohamed Zaher;
- Kamoun, Hassen;
- Sallemi-Boudawara, Tahya;
- Mhiri, Riadh;
- Mokdad-Gargouri, Raja
Publication type:
Article
Understanding familial risk of pancreatic ductal adenocarcinoma.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 419, doi. 10.1007/s10689-024-00383-2
By:
- Paranal, Raymond M.;
- Wood, Laura D.;
- Klein, Alison P.;
- Roberts, Nicholas J.
Publication type:
Article
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 507, doi. 10.1007/s10689-024-00382-3
By:
- Esperon, Patricia;
- Neffa, Florencia;
- Pavicic, Walter;
- Spirandelli, Florencia;
- Alvarez, Karin;
- Mullins, María José;
- Rossi, Benedito Mauro;
- Góngora e Silva, Rodrigo Felipe;
- Vaccaro, Carlos;
- Lopéz-Köstner, Francisco;
- Rugeles, Jorge;
- Valle, Adriana Della;
- Dominguez-Valentin, Mev
Publication type:
Article
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 491, doi. 10.1007/s10689-024-00371-6
By:
- Trivedi, Meghna S.;
- Manley, Haley;
- Yi, Haeseung;
- Silverman, Thomas;
- Chung, Wendy K.;
- Appelbaum, Paul S.;
- Starck, Rebecca;
- Schecter, Isaac;
- Kukafka, Rita;
- Crew, Katherine D.
Publication type:
Article
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 479, doi. 10.1007/s10689-024-00370-7
By:
- Kanth, Priyanka;
- Hazel, Mark W.;
- Schell, John C.;
- Rutter, Jared;
- Yao, Ruoxin;
- Mills, Alyssa P.;
- Delker, Don A.
Publication type:
Article
Clinical features of prostate cancer by polygenic risk score.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 499, doi. 10.1007/s10689-024-00369-0
By:
- Spears, Christina;
- Xu, Menglin;
- Shoben, Abigail;
- Dason, Shawn;
- Toland, Amanda Ewart;
- Byrne, Lindsey
Publication type:
Article
Progress report: Peutz–Jeghers syndrome.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 409, doi. 10.1007/s10689-024-00362-7
By:
- Jelsig, Anne Marie;
- Karstensen, John Gásdal;
- Overeem Hansen, Thomas V.
Publication type:
Article
Aberrant transcription caused by an intronic non-canonical CDH1 variant.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 671, doi. 10.1007/s10689-024-00361-8
By:
- Bouras, Ahmed;
- Grand-Masson, Chloé;
- Lefol, Cedrick;
- Ruano, Eric;
- Prieur, Fabienne;
- Wang, Qing
Publication type:
Article
In Memoriam: Steffen Bülow (1943–2023).
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 407, doi. 10.1007/s10689-024-00358-3
By:
- Vasen, Hans F. A.
Publication type:
Article
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 473, doi. 10.1007/s10689-024-00357-4
By:
- Biermann, Sabine;
- Knapp, Michael;
- Wieacker, Peter;
- Aretz, Stefan;
- Steinke-Lange, Verena
Publication type:
Article