Volume 16; Issue 2

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Familial Cancer
Volume 16; Issue 2

Familial Cancer

Volume 16; Issue 2

1

TP53andCDKN1Amutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes

Andrade, Raissa Coelho, dos Santos, Anna Claudia Evangelista, de Aguirre Neto, Joaquim Caetano, Nevado, Julián, Lapunzina, Pablo, Vargas, Fernando Regla

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 397 KB

english, 2017

2

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Rohlin, Anna, Rambech, Eva, Kvist, Anders, Törngren, Therese, Eiengård, Frida, Lundstam, Ulf, Zagoras, Theofanis, Gebre-Medhin, Samuel, Borg, Åke, Björk, Jan, Nilbert, Mef, Nordling, Margareta

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 448 KB

english, 2017

3

Cystic parathyroid glands in MEN1: A rare entity?

Cavalli, Tiziana, Giudici, Francesco, Nesi, Gabriella, Amorosi, Andrea, Santi, Raffaella, Brandi, Maria Luisa, Tonelli, Francesco

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 1023 KB

english, 2017

4

A case of multiple gastrointestinal stromal tumors caused by a germlineKITgene mutation (p.Leu576Pro)

Vale Rodrigues, Rita, Santos, Filipa, Pereira da Silva, João, Francisco, Inês, Claro, Isabel, Albuquerque, Cristina, Lemos, Maria Manuel, Limbert, Manuel, Dias Pereira, António

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 1.61 MB

english, 2017

5

BRCA1allele-specific expression in genetic predisposed breast/ovarian cancer

Jamard, Estelle, Volard, Bertrand, Dugué, Audrey Emmanuelle, Legros, Angelina, Leconte, Alexandra, Clarisse, Bénédicte, Davy, Grégoire, Polycarpe, Florence, Dugast, Catherine, Abadie, Caroline, Frebou

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 429 KB

english, 2017

6

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Fr

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 407 KB

english, 2017

7

DICER1mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Bardón-Cancho, Eduardo J., Haro-Díaz, Ana, Alonso-García-de la Rosa, Francisco J., Huerta-Aragonés, Jorge, García-Morín, Marina, González-Martínez, Felipe, Garrido-Colino, Carmen

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

8

Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency

Katz, Lior H., Advani, Shailesh, Burton-Chase, Allison M., Fellman, Bryan, Polivka, Katrina M., Yuan, Ying, Lynch, Patrick M., Peterson, Susan K.

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 373 KB

english, 2017

9

Attenuated polyposis of the large bowel: a morphologic and molecular approach

de Leon, Maurizio Ponz, Pedroni, Monica, Roncucci, Luca, Domati, Federica, Rossi, Giuseppina, Magnani, Giulia, Pezzi, Annalisa, Fante, Rossella, Bonetti, Luca Reggiani

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 424 KB

english, 2017

10

Colonoscopy in Lynch syndrome: the need for a new quality score

Boonstra, Jurjen J., de Vos tot Nederveen Cappel, Wouter H., Langers, Alexandra M. J., van der Sluis, Hedwig, Hardwick, James H., Vasen, Hans F. A.

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 316 KB

english, 2017

11

Analysis of aRECQLsplicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe

Bogdanova, Natalia, Pfeifer, Katja, Schürmann, Peter, Antonenkova, Natalia, Siggelkow, Wulf, Christiansen, Hans, Hillemanns, Peter, Park-Simon, Tjoung-Won, Dörk, Thilo

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 477 KB

english, 2017

12

All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

Long, Kristin L., Etzel, Carol, Rich, Thereasa, Hyde, Samuel, Perrier, Nancy D., Graham, Paul H., Lee, Jeffrey E., Hu, Mimi I., Cote, Gilbert J., Gagel, Robert, Grubbs, Elizabeth G.

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 887 KB

english, 2017

13

Double germline mutations inAPCandBRCA2in an individual with a pancreatic tumor

Goehringer, Caroline, Sutter, Christian, Kloor, Matthias, Gebert, Johannes, Slater, Emily P., Keller, Monika, Treiber, Irmgard, Ganschow, Petra, Kadmon, Martina, Moog, Ute

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 922 KB

english, 2017

14

Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome

Wielders, Eva, Delzenne-Goette, Elly, Dekker, Rob, van der Valk, Martin, te Riele, Hein

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 693 KB

english, 2017

15

RecurrentTP53missense mutation in cancer patients of Arab descent

Zick, Aviad, Kadouri, Luna, Cohen, Sherri, Frohlinger, Michael, Hamburger, Tamar, Zvi, Naama, Plaser, Morasha, Avital, Eilat, Breuier, Shani, Elian, Firase, Salah, Azzam, Goldberg, Yael, Peretz, Tamar

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 568 KB

english, 2017

16

Four generations of SDHB-related disease: complexities in management

Srirangalingam, U., LeCain, M., Tufton, N., Akker, S. A., Drake, W. M., Metcalfe, K.

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 543 KB

english, 2017

17

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer

Nilsson, Martin P., Winter, Christof, Kristoffersson, Ulf, Rehn, Martin, Larsson, Christer, Saal, Lao H., Loman, Niklas

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 401 KB

english, 2017

18

Pain evaluation during gynaecological surveillance in women with Lynch syndrome

Helder-Woolderink, Jorien, de Bock, Geertruida, Hollema, Harry, van Oven, Magda, Mourits, Marian

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

19

Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway

Trine Levin,Lovise Mæhle

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 448 KB

english, 2017

20

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores

D. G. Evans,E. R. Woodward,S. J. Howell,S. Verhoef,A. Howell…

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 394 KB

english, 2017