Works matching IS 17312302 AND DT 2016 AND VI 14

Results: 20

Syndromic gastrointestinal stromal tumors.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0055-4

By:

Ricci, Riccardo

Publication type:

Article

Prevalence of the CHEK2 R95* germline mutation.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0059-0

By:

Knappskog, Stian;
Leirvaag, Beryl;
Gansmo, Liv B.;
Romundstad, Pål;
Hveem, Kristian;
Vatten, Lars;
Lønning, Per E.

Publication type:

Article

Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0054-5

By:

Pensabene, Matilde;
Condello, Caterina;
Carlomagno, Chiara;
De Placido, Sabino;
Liccardo, Raffaella;
Duraturo, Francesca

Publication type:

Article

Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0052-7

By:

Warren-Gash, Charlotte;
Kroese, Mark;
Burton, Hilary;
Pharoah, Paul

Publication type:

Article

Pedigree based DNA sequencing pipeline for germline genomes of cancer families.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0058-1

By:

Försti, Asta;
Kumar, Abhishek;
Paramasivam, Nagarajan;
Schlesner, Matthias;
Catalano, Calogerina;
Dymerska, Dagmara;
Lubinski, Jan;
Eils, Roland;
Hemminki, Kari

Publication type:

Article

Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0060-7

By:

Azofra, Ana Sánchez;
Kidambi, Trilokesh D.;
Jeremy, Rita J.;
Conrad, Peggy;
Blanco, Amie;
Myers, Megan;
Barkovich, James;
Terdiman, Jonathan P.

Publication type:

Article

A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0056-3

By:

Rashid, Muhammad U.;
Naeemi, Humaira;
Muhammad, Noor;
Loya, Asif;
Yusuf, Muhammed A.;
Lubiński, n;
Jakubowska, Anna;
Hamann, Ute

Publication type:

Article

Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0048-3

By:

Evans, D. G.;
Harkness, E. F.;
Howell, A.;
Wilson, M.;
Hurley, E.;
Holmen, M. M.;
Tharmaratnam, K. U.;
Hagen, A. I.;
Lim, Y.;
Maxwell, A. J.;
Moller, P.

Publication type:

Article

Cytotoxic and targeted therapy for hereditary cancers.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0057-2

By:

Iyevleva, Aglaya G.;
Imyanitov, Evgeny N.

Publication type:

Article

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0051-8

By:

Pistorius, Steffen;
Klink, Barbara;
Pablik, Jessica;
Rump, Andreas;
Aust, Daniela;
Garzarolli, Marlene;
Schröck, Evelin;
Schackert, Hans K.

Publication type:

Article

Assessing biases of information contained in pedigrees for the classification of BRCAgenetic variants: a study arising from the ENIGMA analytical working group.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0050-9

By:

Kerkhofs, C. H. H.;
Spurdle, A. B.;
Lindsey, P. J.;
Goldgar, D. E.;
Gómez-García, E. B.

Publication type:

Article

PALB2: research reaching to clinical outcomes for women with breast cancer.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1

By:

Southey, Melissa C.;
Winship, Ingrid;
Dumont, Tû Nguyen

Publication type:

Article

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0053-6

By:

Bennedbæk, Marc;
Rossing, Maria;
Rasmussen, Åse K.;
Gerdes, Anne-Marie;
Skytte, Anne-Bine;
Jensen, Uffe B.;
Nielsen, Finn C.;
Hansen, Thomas v. O.

Publication type:

Article

REVIEWER ACKNOWLEDGEMENT.

Published in:: 2016
Publication type:: Calendar

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0045-y

By:

Wong-Brown, Michelle;
McPhillips, Mary;
Gleeson, Margaret;
Spigelman, Allan D.;
Meldrum, Cliff J.;
Dooley, Susan;
Scott, Rodney J.

Publication type:

Article

Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0046-5

By:

Wojcik, P.;
Jasiowka, M.;
Strycharz, E.;
Sobol, M.;
Hodorowicz-Zaniewska, D.;
Skotnicki, P.;
Byrski, T.;
Blecharz, P.;
Marczyk, E.;
Cedrych, I.;
Jakubowicz, J.;
Lubiński, J.;
Sopik, V.;
Narod, S.;
Pierzchalski, P.

Publication type:

Article

BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0043-0

By:

Ławniczak, Małgorzata;
Jakubowska, Anna;
Białek, Andrzej;
Lubiński, Jan;
Jaworska-Bieniek, Katarzyna;
Kaczmarek, Katarzyna;
Starzyńska, Teresa

Publication type:

Article

Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0042-1

By:

Fernandes, Gabriela C.;
Michell, Rodrigo A. D.;
Scapulatempo-Neto, Cristovam;
Palmero, Edenir I.

Publication type:

Article

Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0044-z

By:

Synowiec, Agnieszka;
Wcisło, Gabriel;
Bodnar, Lubomir;
Górski, Bohdan;
Szenajch, Jolanta;
Szarlej-Wcisło, Katarzyna;
Szczylik, Cezary

Publication type:

Article

Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer.

Published in:

Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0041-2

By:

Szatkowski, Wiktor;
Blecharz, Paweł;
Mituś, Jerzy W.;
Jasiówka, Marek;
Łuczyńska, Elżbieta;
Jakubowicz, Jerzy;
Byrski, Tomasz

Publication type:

Article