Works matching IS 13899600 AND DT 2017 AND VI 16 AND IP 4

Results: 20

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 561, doi. 10.1007/s10689-017-9984-y

By:

Wilson, Tremika;
Hattangady, Namita;
Lerario, Antonio;
Williams, Carmen;
Koeppe, Erika;
Quinonez, Shane;
Osborne, Jenae;
Cha, Kelly;
Else, Tobias

Publication type:

Article

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 477, doi. 10.1007/s10689-017-9985-x

By:

Gabaldó Barrios, Xavier;
Sarabia Meseguer, Mª;
Marín Vera, Miguel;
Sánchez Bermúdez, Ana;
Macías Cerrolaza, José;
Sánchez Henarejos, Pilar;
Zafra Poves, Marta;
García Hernández, Mª;
Cuevas Tortosa, Encarna;
Aliaga Baño, Ángeles;
Castillo Guardiola, Verónica;
Martínez Hernández, Pedro;
Tovar Zapata, Isabel;
Martínez Barba, Enrique;
Ayala de la Peña, Francisco;
Alonso Romero, José;
Noguera Velasco, José;
Ruiz Espejo, Francisco

Publication type:

Article

Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 577, doi. 10.1007/s10689-017-9991-z

By:

Ali, Syeda;
Bangash, Kashif;
Rauf, Abdur;
Younis, Muhammad;
Anwar, Khursheed;
Khurram, Raja;
Khawaja, Muhammad;
Azam, Maleeha;
Qureshi, Abid;
Akhter, Saeed;
Kiemeney, Lambertus;
Qamar, Raheel

Publication type:

Article

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 491, doi. 10.1007/s10689-017-9975-z

By:

Morak, Monika;
Käsbauer, Sarah;
Kerscher, Martina;
Laner, Andreas;
Nissen, Anke;
Benet-Pagès, Anna;
Schackert, Hans;
Keller, Gisela;
Massdorf, Trisari;
Holinski-Feder, Elke

Publication type:

Article

High-risk individuals' perceptions of reproductive genetic testing for CDH1 mutations.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 531, doi. 10.1007/s10689-017-9976-y

By:

Hallowell, Nina;
Badger, Shirlene;
Richardson, Sue;
Caldas, Carlos;
Hardwick, Richard;
Fitzgerald, Rebecca;
Lawton, Julia

Publication type:

Article

Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations.

Published in:

2017

By:

Hechtman, Jaclyn;
Middha, Sumit;
Stadler, Zsofia;
Zehir, Ahmet;
Berger, Michael;
Vakiani, Efsevia;
Weiser, Martin;
Ladanyi, Marc;
Saltz, Leonard;
Klimstra, David;
Shia, Jinru

Publication type:

Letter

Placing negative multi-gene panel results into clinical context.

Published in:

2017

By:

Hermel, David;
McKinnon, Wendy;
Wood, Marie;
Greenblatt, Marc

Publication type:

Letter

Improved quality of risk-reducing salpingo-oophorectomy in Australasian women at high risk of pelvic serous cancer.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 461, doi. 10.1007/s10689-017-9977-x

By:

Lee, Y.;
Bressel, M.;
Grant, P.;
Russell, P.;
Smith, C.;
Picken, S.;
Camm, S.;
Kiely, B.;
Milne, R.;
McLachlan, S.;
Hickey, M.;
Friedlander, M.;
Hopper, J.;
Phillips, K.

Publication type:

Article

Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 471, doi. 10.1007/s10689-017-9978-9

By:

Gorodetska, I.;
Serga, S.;
Lahuta, T.;
Ostapchenko, L.;
Demydov, S.;
Khranovska, N.;
Skachkova, O.;
Inomistova, M.;
Kolesnik, O.;
Svintsitsky, V.;
Tsip, N.;
Peresunko, A.;
Kmit', N.;
Manzhura, O.;
Rossokha, Z.;
Popova, O.;
Salomakhina, H.;
Kyriachenko, S.;
Kozeretska, I.

Publication type:

Article

Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 537, doi. 10.1007/s10689-017-9979-8

By:

Kidambi, Trilokesh;
Pedley, Christina;
Blanco, Amie;
Bergsland, Emily;
Terdiman, Jonathan

Publication type:

Article

Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 545, doi. 10.1007/s10689-017-9980-2

By:

Gupta, Sumati;
Greenberg, Samantha;
Grimmett, Jade;
Gaston, David;
Agarwal, Neeraj;
Lowrance, William;
Schiffman, Joshua;
Kohlmann, Wendy

Publication type:

Article

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 501, doi. 10.1007/s10689-017-9981-1

By:

González-Acosta, Maribel;
del Valle, Jesús;
Navarro, Matilde;
Thompson, Bryony;
Iglesias, Sílvia;
Sanjuan, Xavier;
Paúles, María José;
Padilla, Natàlia;
Fernández, Anna;
Cuesta, Raquel;
Teulé, Àlex;
Plotz, Guido;
Cadiñanos, Juan;
Cruz, Xavier;
Balaguer, Francesc;
Lázaro, Conxi;
Pineda, Marta;
Capellá, Gabriel

Publication type:

Article

A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 551, doi. 10.1007/s10689-017-9982-0

By:

Gass, Jennifer;
Jackson, Jessica;
Macklin, Sarah;
Blackburn, Patrick;
Hines, Stephanie;
Atwal, Paldeep

Publication type:

Article

A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 555, doi. 10.1007/s10689-017-9983-z

By:

Chiang, Jy-Ming;
Chen, Tse-Ching

Publication type:

Article

General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 509, doi. 10.1007/s10689-017-9986-9

By:

Smith, Samuel;
Foy, Robbie;
McGowan, Jennifer;
Kobayashi, Lindsay;
Burn, John;
Brown, Karen;
Side, Lucy;
Cuzick, Jack

Publication type:

Article

Importance of updating family cancer history in childhood cancer survivors.

Published in:

2017

By:

Russo, Selena;
Warby, Meera;
Tucker, Katherine;
Wakefield, Claire;
Cohn, Richard

Publication type:

Letter

Genetic polymorphisms of NFκB1-94ins/delATTG and NFκBIA-881A/G genes in Egyptian patients with colorectal cancer.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 517, doi. 10.1007/s10689-017-9992-y

By:

Youssef, Mohamed;
Attia, Zeinab;
El-Baz, Rizk;
Roshdy, Sameh;
Settin, Ahmad

Publication type:

Article

All in the family? Communication of cancer survivors with their families.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 597, doi. 10.1007/s10689-017-9987-8

By:

Bowen, Deborah;
Hay, Jennifer;
Harris-Wai, Julie;
Meischke, Hendrika;
Burke, Wylie

Publication type:

Article

A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 567, doi. 10.1007/s10689-017-9990-0

By:

Llovet, Patricia;
Illana, Francisco;
Martín-Morales, Lorena;
Hoya, Miguel;
Garre, Pilar;
Ibañez-Royo, M.;
Pérez-Segura, Pedro;
Caldés, Trinidad;
García-Barberán, Vanesa

Publication type:

Article

Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.

Published in:

Familial Cancer, 2017, v. 16, n. 4, p. 611, doi. 10.1007/s10689-017-9989-6

By:

Rosenthal, Elisabeth;
Ranola, John;
Shirts, Brian

Publication type:

Article