Works matching IS 13899600 AND DT 2025 AND VI 24 AND IP 3

Results: 12

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00486-4

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Parental perspectives on the use of tumor molecular profiling and germline genetic testing during their children's cancer treatment.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00488-2

By:

Sleiman Jr., Marcelo M.;
Statman, Muriel R.;
Yockel, Mary Rose;
Wu, Yelena P.;
Hamilton, Jada G.;
Kohlmann, Wendy K.;
Vagher, Jennie;
Feola, Soren;
Maese, Luke D.;
Chen, Jing;
Appel, Burton;
Mehrhoff, Casey J.;
Peshkin, Beth N.;
Kadan-Lottick, Nina S.;
Kupfer, Gary M.;
Tercyak, Kenneth P.

Publication type:

Article

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00489-1

By:

Nahom, Dana;
Frenkel, Zehavit;
Toren, Amos;
Friedman, Eitan;
Kventsel, Iris

Publication type:

Article

Copy number and structural variant analyses of VHL gene using droplet digital PCR and targeted adaptive sampling long-read sequencing.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00487-3

By:

Kato, Shota;
Terui-Kohbata, Hiroko;
Kudo, Atsushi;
Seki, Masafumi;
Takita, Junko;
Morio, Tomohiro;
Nakano, Yoshiko;
Kato, Motohiro;
Yoshida, Masayuki;
Takagi, Masatoshi

Publication type:

Article

Copy number and structural variant analyses of VHL gene using droplet digital PCR and targeted adaptive sampling long-read sequencing.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00487-3

By:

Kato, Shota;
Terui-Kohbata, Hiroko;
Kudo, Atsushi;
Seki, Masafumi;
Takita, Junko;
Morio, Tomohiro;
Nakano, Yoshiko;
Kato, Motohiro;
Yoshida, Masayuki;
Takagi, Masatoshi

Publication type:

Article

Experiences with risk-reducing mastectomy in Norwegian BRCA1/2 carriers without prior breast cancer.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00484-6

By:

Hyldebrandt, Hanne Kjensli;
Stormorken, Astrid Tenden;
Vitelli, Valeria;
Geirdal, Amy Østertun;
Grindedal, Eli Marie

Publication type:

Article

MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00482-8

By:

Alvarez, Rocio;
Climent-Cantó, Paula;
Shin, GiWon;
Aguirre, Francesca Paola;
Zhou, Lisa;
Hazelett, Dennis J.;
Larson, Brent K.;
Vara, Covadonga;
Capellá, Gabriel;
Castellanos, Víctor Lorca;
Rubio, Pilar Garre;
Desseigne, Françoise;
Ji, Hanlee;
Cook, Jackie;
Durkie, Miranda;
Pineda, Marta;
Leclerc, Julie;
Hitchins, Megan P.

Publication type:

Article

Gastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00485-5

By:

Jiang, Anqi;
Ye, Yingfei;
Tan, Haowen;
Tao, Xiang;
Ma, Fenghua;
Wang, Hui;
Xu, Congjian;
Kang, Yu

Publication type:

Article

Gastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00485-5

By:

Jiang, Anqi;
Ye, Yingfei;
Tan, Haowen;
Tao, Xiang;
Ma, Fenghua;
Wang, Hui;
Xu, Congjian;
Kang, Yu

Publication type:

Article

Completeness of colorectal cancer registration in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00483-7

By:

Lindberg, Lars Joachim;
Bernstein, Inge;
Møller, Henrik;
Sunde, Lone;
Therkildsen, Christina

Publication type:

Article

Updates and controversies for desmoids in familial adenomatous polyposis.

Published in:

Familial Cancer, 2025, v. 24, n. 3, p. 1, doi. 10.1007/s10689-025-00481-9

By:

Aoun, Rami James N.;
Kalady, Matthew F.

Publication type:

Article

A coordinated multidisciplinary model of care is needed for child and family centered care in pediatric genetic cancer risk services: a scoping review.

Published in:

2025

By:

Grant, Andrew M.;
Taylor, Natalie;
Maguire, Jane;
de Graves, Sharon;
Signorelli, Christina;
Fuentes-Bolanos, Noemi A.;
Tucker, Katherine M.;
Cruickshank, Marilyn

Publication type:

Literature Review