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

Results: 10

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

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

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

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

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

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

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

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

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