Works matching IS 13899600 AND DT 2017 AND VI 16

Results: 81

International society for gastrointestinal hereditary tumours-InSiGHT.

Published in:: Familial Cancer, 2017, v. 16, p. 1, doi. 10.1007/s10689-017-0026-6
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

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

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

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

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

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

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

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

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

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

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

Detection of false positive mutations in BRCA gene by next generation sequencing.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 311, doi. 10.1007/s10689-016-9955-8

By:

Suryavanshi, Moushumi;
Kumar, Dushyant;
Panigrahi, Manoj;
Chowdhary, Meenakshi;
Mehta, Anurag

Publication type:

Article

Outcomes of retesting BRCA negative patients using multigene panels.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 319, doi. 10.1007/s10689-016-9956-7

By:

Yadav, Siddhartha;
Reeves, Ashley;
Campian, Sarah;
Paine, Amy;
Zakalik, Dana

Publication type:

Article

The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 395, doi. 10.1007/s10689-016-9957-6

By:

Witkowski, Leora;
Donini, Nancy;
Byler-Dann, Rebecca;
Knost, James;
Albrecht, Steffen;
Berchuck, Andrew;
McCluggage, W. Glenn;
Hasselblatt, Martin;
Foulkes, William

Publication type:

Article

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 401, doi. 10.1007/s10689-016-9958-5

By:

Fremerey, Julia;
Balzer, Stefan;
Brozou, Triantafyllia;
Schaper, Joerg;
Borkhardt, Arndt;
Kuhlen, Michaela

Publication type:

Article

ATM mutations for surgeons.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 407, doi. 10.1007/s10689-016-9959-4

By:

Mansfield, Sara;
Pilarski, Robert;
Agnese, Doreen

Publication type:

Article

Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 357, doi. 10.1007/s10689-016-9960-y

By:

Mork, Maureen;
Rodriguez, Andrea;
Taggart, Melissa;
Rodriguez-Bigas, Miguel;
Lynch, Patrick;
Bannon, Sarah;
You, Y.;
Vilar, Eduardo

Publication type:

Article

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 411, doi. 10.1007/s10689-016-9961-x

By:

Mahmoodi, Maryam;
Nguyen-Dumont, Tu;
Hammet, Fleur;
Pope, Bernard;
Park, Daniel;
Southey, Melissa;
Darlow, John;
Bruinsma, Fiona;
Winship, Ingrid

Publication type:

Article

Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 329, doi. 10.1007/s10689-016-9962-9

By:

Silva, Sumadee;
Tennekoon, Kamani;
Dissanayake, Aravinda;
Silva, Kanishka;
Jayasekara, Lakshika

Publication type:

Article

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 417, doi. 10.1007/s10689-016-9963-8

By:

Tan, Hu;
Wei, Xianda;
Yang, Pu;
Huang, Yanru;
Li, Haoxian;
Liang, Desheng;
Wu, Lingqian

Publication type:

Article

Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 423, doi. 10.1007/s10689-016-9964-7

By:

McBride, Kate;
Ballinger, Mandy;
Schlub, Timothy;
Young, Mary-Anne;
Tattersall, Martin;
Kirk, Judy;
Eeles, Ros;
Killick, Emma;
Walker, Leslie;
Shanley, Sue;
Thomas, David;
Mitchell, Gillian

Publication type:

Article

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 433, doi. 10.1007/s10689-017-9965-1

By:

Saya, Sibel;
Killick, Emma;
Thomas, Sarah;
Taylor, Natalie;
Bancroft, Elizabeth;
Rothwell, Jeanette;
Benafif, Sarah;
Dias, Alexander;
Mikropoulos, Christos;
Pope, Jenny;
Chamberlain, Anthony;
Gunapala, Ranga;
Izatt, Louise;
Side, Lucy;
Walker, Lisa;
Tomkins, Susan;
Cook, Jackie;
Barwell, Julian;
Wiles, Vicki;
Limb, Lauren

Publication type:

Article

Gastric tumours in FAP.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 363, doi. 10.1007/s10689-017-9966-0

By:

Walton, Sarah-Jane;
Frayling, Ian;
Clark, Susan;
Latchford, Andrew

Publication type:

Article

Patients with negative multi-gene panel testing: a back to the future paradox?

Published in:

2017

By:

Sorscher, Steven

Publication type:

Letter

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 441, doi. 10.1007/s10689-017-9968-y

By:

Feben, Candice;
Spencer, Careni;
Lochan, Anneline;
Laing, Nakita;
Fieggen, Karen;
Honey, Engela;
Wainstein, Tasha;
Krause, Amanda

Publication type:

Article

The association between prognosis of breast cancer and first-degree family history of breast or ovarian cancer: a systematic review and meta-analysis.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 339, doi. 10.1007/s10689-017-9969-x

By:

Song, Jun-Long;
Chen, Chuang;
Yuan, Jing-Ping;
Sun, Sheng-Rong

Publication type:

Article

Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 447, doi. 10.1007/s10689-017-9970-4

By:

Derbez, Benjamin;
Pauw, Antoine;
Stoppa-Lyonnet, Dominique;
Montgolfier, Sandrine

Publication type:

Article

Gastric cancer in FAP: a concerning rise in incidence.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 371, doi. 10.1007/s10689-017-9971-3

By:

Mankaney, Gautam;
Leone, Pamela;
Cruise, Michael;
LaGuardia, Lisa;
O'Malley, Margaret;
Bhatt, Amit;
Church, James;
Burke, Carol

Publication type:

Article

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 377, doi. 10.1007/s10689-017-9972-2

By:

Hunter, Jessica;
Arnold, Kathleen;
Cook, Jennifer;
Zepp, Jamilyn;
Gilmore, Marian;
Rope, Alan;
Davis, James;
Bergen, Kellene;
Esterberg, Elizabeth;
Muessig, Kristin;
Peterson, Susan;
Syngal, Sapna;
Acheson, Louise;
Wiesner, Georgia;
Reiss, Jacob;
Goddard, Katrina

Publication type:

Article

Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 351, doi. 10.1007/s10689-017-9973-1

By:

Akbari, Mohammad;
Zhang, Shiyu;
Cragun, Deborah;
Lee, Ji-Hyun;
Coppola, Domenico;
McLaughlin, John;
Risch, Harvey;
Rosen, Barry;
Shaw, Patricia;
Sellers, Thomas;
Schildkraut, Joellen;
Narod, Steven;
Pal, Tuya

Publication type:

Article

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

Published in:

Familial Cancer, 2017, v. 16, n. 3, p. 389, doi. 10.1007/s10689-016-9954-9

By:

Marafie, Makia;
Dashti, Mohammed;
Al-Mulla, Fahd

Publication type:

Article

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 243, doi. 10.1007/s10689-016-9935-z

By:

Andrade, Raissa;
Santos, Anna;
Aguirre Neto, Joaquim;
Nevado, Julián;
Lapunzina, Pablo;
Vargas, Fernando

Publication type:

Article

Cystic parathyroid glands in MEN1: A rare entity?

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 249, doi. 10.1007/s10689-016-9936-y

By:

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

Publication type:

Article

Pain evaluation during gynaecological surveillance in women with Lynch syndrome.

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 205, doi. 10.1007/s10689-016-9937-x

By:

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

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 211, doi. 10.1007/s10689-016-9938-9

By:

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

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 257, doi. 10.1007/s10689-016-9939-8

By:

Levin, Trine;
Mæhle, Lovise

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 221, doi. 10.1007/s10689-016-9945-x

By:

Wielders, Eva;
Delzenne-Goette, Elly;
Dekker, Rob;
Valk, Martin;
Riele, Hein

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 267, doi. 10.1007/s10689-016-9941-1

By:

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

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 173, doi. 10.1007/s10689-016-9942-0

By:

Evans, D.;
Woodward, E.;
Howell, S.;
Verhoef, S.;
Howell, A.;
Lalloo, F.

Publication type:

Article

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

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 271, doi. 10.1007/s10689-016-9943-z

By:

Dommering, Charlotte;
Henneman, Lidewij;
Hout, Annemarie;
Jonker, Marianne;
Tops, Carli;
Ouweland, Ans;
Luijt, Rob;
Mensenkamp, Arjen;
Hogervorst, Frans;
Redeker, Egbert;
Die-Smulders, Christine;
Moll, Annette;
Meijers-Heijboer, Hanne

Publication type:

Article