Works matching IS 13899600 AND DT 2020 AND VI 19 AND IP 4

Results: 10

Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 307, doi. 10.1007/s10689-020-00186-1
By:
- Alhopuro, Pia;
- Vainionpää, Reetta;
- Anttonen, Anna-Kaisa;
- Aittomäki, Kristiina;
- Nevanlinna, Heli;
- Pöyhönen, Minna
Publication type:
Article
Women's responses and understanding of polygenic breast cancer risk information.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 297, doi. 10.1007/s10689-020-00185-2
By:
- Yanes, T.;
- Kaur, R.;
- Meiser, B.;
- Scheepers-Joynt, M.;
- McInerny, S.;
- Barlow-Stewart, K.;
- Antill, Y.;
- Salmon, L.;
- Smyth, C.;
- James, P. A.;
- Young, M. A.
Publication type:
Article
Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 353, doi. 10.1007/s10689-020-00184-3
By:
- Courtney, Eliza;
- Chan, Sock Hoai;
- Li, Shao Tzu;
- Ishak, Diana;
- Merchant, Khurshid;
- Shaw, Tarryn;
- Chay, Wen Yee;
- Chin, Felicia Hui Xian;
- Wong, Wai Loong;
- Wong, Adele;
- Ngeow, Joanne
Publication type:
Article
Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 337, doi. 10.1007/s10689-020-00183-4
By:
- Meiser, B.;
- Kaur, R.;
- Kirk, J.;
- Morrow, A.;
- Peate, M.;
- Wong, W. K. T.;
- McPike, E.;
- Cops, E.;
- Dowson, C.;
- Austin, R.;
- Fine, M.;
- Thrupp, L.;
- Ward, R.;
- Macrae, F.;
- Hiller, J. E.;
- Trainer, A. H.;
- Mitchell, G.;
- for the ICCon Audit Study Collaborative Group;
- Susman, R.;
- Pachter, N.
Publication type:
Article
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 323, doi. 10.1007/s10689-020-00182-5
By:
- Piñero, Tamara Alejandra;
- Soukarieh, Omar;
- Rolain, Marion;
- Alvarez, Karin;
- López-Köstner, Francisco;
- Torrezan, Giovana Tardin;
- Carraro, Dirce Maria;
- De Oliveira Nascimento, Ivana Lucia;
- Bomfim, Thaís Ferreira;
- Machado-Lopes, Taísa Manuela Bonfim;
- Freitas, Juliana Côrtes;
- Toralles, Maria Betânia;
- Sandes, Kiyoko Abe;
- Rossi, Benedito Mauro;
- Junior, Samuel Aguiar;
- Meira, Joanna;
- Dominguez-Valentin, Mev;
- Møller, Pål;
- Vaccaro, Carlos Alberto;
- Martins, Alexandra
Publication type:
Article
Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 315, doi. 10.1007/s10689-020-00180-7
By:
- Yang, Ciyu;
- Sheehan, Margaret;
- Borras, Ester;
- Cadoo, Karen;
- Offit, Kenneth;
- Zhang, Liying
Publication type:
Article
Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 291, doi. 10.1007/s10689-020-00179-0
By:
- Grandi, Giovanni;
- Caroli, Martina;
- Alboni, Carlo;
- Cortesi, Laura;
- Toss, Angela;
- Barbieri, Elena;
- Botticelli, Laura;
- Facchinetti, Fabio
Publication type:
Article
Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 347, doi. 10.1007/s10689-020-00178-1
By:
- Nieuwenburg, S. A.;
- Adan, F.;
- Ruijs, M. W. G.;
- Sonke, G. S.;
- van Leerdam, M. E.;
- Crijns, M. B.
Publication type:
Article
Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 311, doi. 10.1007/s10689-020-00177-2
By:
- Gad, Mohamed M.;
- Langevin, Anne-Marie;
- Sugalski, Aaron J.;
- Tomlinson, Gail E.
Publication type:
Article
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients.
Published in:
Familial Cancer, 2020, v. 19, n. 4, p. 281, doi. 10.1007/s10689-020-00176-3
By:
- van der Giessen, Jeanine A. M.;
- Ausems, Margreet G. E. M.;
- van den Muijsenbergh, Maria E. T. C.;
- van Dulmen, Sandra;
- Fransen, Mirjam P.
Publication type:
Article