Works matching IS 13899600 AND DT 2023 AND VI 22 AND IP 3

Results: 11

Ninth International Symposium on Hereditary Breast and Ovarian Cancer: May 2–5, 2023 – Centre Mont-Royal, Montréal, Québec, Canada.

Published in:: Familial Cancer, 2023, v. 22, n. 3, p. 345, doi. 10.1007/s10689-023-00332-5
Publication type:: Article

Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 283, doi. 10.1007/s10689-023-00331-6

By:

Hu-Heimgartner, Ketty;
Lang, Noémie;
Ayme, Aurélie;
Ming, Chang;
Combes, Jean‑Damien;
Chappuis, Victor N.;
Vazquez, Carla;
Friedlaender, Alex;
Vuilleumier, Aurélie;
Bodmer, Alexandre;
Viassolo, Valeria;
Sandoval, José L;
Chappuis, Pierre O.;
Labidi-Galy, S. Intidhar

Publication type:

Article

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.

Published in:

2023

By:

Smith, Miriam J;
Woodward, Emma R;
Evans, D Gareth

Publication type:

Case Study

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.

Published in:

2023

By:

Byrne, Lindsey;
Ingalls, Cana;
Ansari, Aliya;
Porteus, Cassie;
Donenberg, Talia R.;
Sussman, Daniel A.;
Cebulla, Colleen M.;
Abdel-Rahman, Mohamed H.

Publication type:

Case Study

Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 331, doi. 10.1007/s10689-023-00329-0

By:

Harrigan, Amye M.;
Trottier, Amy M.

Publication type:

Article

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 323, doi. 10.1007/s10689-023-00328-1

By:

Lehman, Bettina;
Matthäi, Elvira;
Gercke, Norman;
Denzer, Ulrike W.;
Figiel, Jens;
Hess, Timo;
Slater, Emily P.;
Bartsch, Detlef K.

Publication type:

Article

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 291, doi. 10.1007/s10689-023-00327-2

By:

Kumpula, Timo A.;
Koivuluoma, Susanna;
Soikkonen, Leila;
Vorimo, Sandra;
Moilanen, Jukka;
Winqvist, Robert;
Mantere, Tuomo;
Kuismin, Outi;
Pylkäs, Katri

Publication type:

Article

Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 319, doi. 10.1007/s10689-022-00326-9

By:

Obregón, Ixtaccihuatl H.;
de Andrade, Kelvin C.;
Bremer, Renee C.;
Khincha, Payal P.;
Savage, Sharon A.

Publication type:

Article

Heritable methylation marks associated with prostate cancer risk.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 313, doi. 10.1007/s10689-022-00325-w

By:

Dowty, James G.;
Yu, Chenglong;
Hosseinpour, Mahnaz;
Joo, Jihoon Eric;
Wong, Ee Ming;
Nguyen-Dumont, Tu;
Rosenbluh, Joseph;
Giles, Graham G.;
Milne, Roger L.;
MacInnis, Robert J.;
Dugué, Pierre-Antoine;
Southey, Melissa C.

Publication type:

Article

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 303, doi. 10.1007/s10689-022-00323-y

By:

Bouras, Ahmed;
Naibo, Pierre;
Legrand, Clémentine;
Marc'hadour, François Le;
Ruano, Eric;
Grand-Masson, Chloé;
Lefol, Cedrick;
Wang, Qing

Publication type:

Article

A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 295, doi. 10.1007/s10689-022-00322-z

By:

Kattapuram, Meera;
Shabet, Christina;
Austin, Sarah;
Jacobs, Michelle F.;
Koeppe, Erika;
Smith, Emily H.;
Lowe, Lori;
Else, Tobias;
Cha, Kelly B.

Publication type:

Article