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
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
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