Works matching IS 13899600 AND DT 2022 AND VI 21 AND IP 2

Results: 14

Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 125, doi. 10.1007/s10689-021-00260-2

By:

Wynn, Julia;
Levinson, Elana;
Koval, Carrie;
Ernst, Michelle E.;
Chung, Wendy K.

Publication type:

Article

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 197, doi. 10.1007/s10689-021-00256-y

By:

Palles, Claire;
Martin, Lynn;
Domingo, Enric;
Chegwidden, Laura;
McGuire, Josh;
Cuthill, Vicky;
Heitzer, Ellen;
Kerr, Rachel;
Kerr, David;
Kearsey, Stephen;
Clark, Susan K.;
Tomlinson, Ian;
Latchford, Andrew

Publication type:

Article

"I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 143, doi. 10.1007/s10689-021-00251-3

By:

Reyes, Kathryn G.;
Clark, Cheyla;
Gerhart, Meredith;
Newson, Ainsley J.;
Ormond, Kelly E.

Publication type:

Article

Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer patients.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 157, doi. 10.1007/s10689-021-00261-1

By:

Meiser, Bettina;
Woodward, Paula;
Gleeson, Margaret;
Kentwell, Maira;
Fan, Helen Mar;
Antill, Yoland;
Butow, Phyllis N.;
Boyle, Frances;
Best, Megan;
Taylor, Natalie;
Bell, Katy;
Tucker, Kathy

Publication type:

Article

The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 241, doi. 10.1007/s10689-021-00259-9

By:

Crook, Ashley;
Kwa, Rebekah;
Ephraums, Sarah;
Wilding, Mathilda;
Thiyagarajan, Lavvina;
Fleming, Jane;
Moore, Katrina;
Berman, Yemima

Publication type:

Article

CDH1 pathogenic variants and cancer risk in an unselected patient population.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 235, doi. 10.1007/s10689-021-00257-x

By:

Bar-Mashiah, Ariel;
Soper, Emily R.;
Cullina, Sinead;
Belbin, Gillian M.;
Kenny, Eimear E.;
Lucas, Aimee L.;
Abul-Husn, Noura S.

Publication type:

Article

Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 121, doi. 10.1007/s10689-021-00255-z

By:

Ludman, Mark D.;
Philipsborn, Shira Litz;
Hartmajer, Shulamit;
Shwartzman, Nitzan Sharon;
Reinstein, Eyal

Publication type:

Article

Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 229, doi. 10.1007/s10689-021-00252-2

By:

Fugaru, Ioana;
Goudie, Catherine;
Capolicchio, John-Paul

Publication type:

Article

Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 189, doi. 10.1007/s10689-021-00250-4

By:

Faisal, Muhammad Salman;
Burke, Carol A.;
Achkar, Jean-Paul;
Click, Benjamin;
O'Malley, Margaret;
LaGuardia, Lisa;
Milicia, Susan;
Leach, Brandie;
Liska, David;
Church, James;
Kalady, Matthew;
Mankaney, Gautam

Publication type:

Article

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 181, doi. 10.1007/s10689-021-00249-x

By:

Kedar, I.;
Walsh, L.;
Levi, G. Reznick;
Lieberman, S.;
Shtaya, A. Abu;
Nathan, S. Naftaly;
Lagovsky, I.;
Tomashov-Matar, R.;
Goldenberg, M.;
Basel-Salmon, L.;
Katz, L.;
Aleme, O.;
Peretz, T. Yablonski;
Hubert, A.;
Rothstein, D.;
Castellvi-Bel, S.;
Walsh, T.;
King, M. C.;
Pritchard, C. C.;
Levi, Z.

Publication type:

Article

First international workshop of the ATM and cancer risk group (4-5 December 2019).

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 211, doi. 10.1007/s10689-021-00248-y

By:

Lesueur, Fabienne;
Easton, Douglas F.;
Renault, Anne-Laure;
Tavtigian, Sean V.;
Bernstein, Jonine L.;
Kote-Jarai, Zsofia;
Eeles, Rosalind A.;
Plaseska-Karanfia, Dijana;
Feliubadaló, Lidia;
Spanish ATM working group;
Moles-Fernández, Alejandro;
Santamariña-Pena, Marta;
Sánchez, Alysson T.;
López-Novo, Anael;
Porras, Luz-Marina;
Blanco, Ana;
Capellá, Gabriel;
de la Hoya, Miguel;
Molina, Ignacio J.;
Osorio, Ana

Publication type:

Article

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM<sub>5</sub>™) for lynch syndrome risk assessment in a diverse population.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 167, doi. 10.1007/s10689-021-00243-3

By:

Mittendorf, Kathleen F.;
Ukaegbu, Chinedu;
Gilmore, Marian J.;
Lindberg, Nangel M.;
Kauffman, Tia L.;
Eubanks, Donna J.;
Shuster, Elizabeth;
Allen, Jake;
McMullen, Carmit;
Feigelson, Heather Spencer;
Anderson, Katherine P.;
Leo, Michael C.;
Hunter, Jessica Ezzell;
Sasaki, Sonia Okuyama;
Zepp, Jamilyn M.;
Syngal, Sapna;
Wilfond, Benjamin S.;
Goddard, Katrina A. B.

Publication type:

Article

A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 137, doi. 10.1007/s10689-021-00242-4

By:

Majidzadeh-A, Keivan;
Zarinfam, Shiva;
Abdoli, Nasrin;
Yadegari, Fatemeh;
Esmaeili, Rezvan;
Farahmand, Leila;
Teimourzadeh, Azin;
Taghizadeh, Mahdieh;
Salehi, Mansoor;
Zamani, Mohamad

Publication type:

Article

Extended gene panel testing in lobular breast cancer.

Published in:

Familial Cancer, 2022, v. 21, n. 2, p. 129, doi. 10.1007/s10689-021-00241-5

By:

van Veen, Elke M.;
Evans, D. Gareth;
Harkness, Elaine F.;
Byers, Helen J.;
Ellingford, Jamie M.;
Woodward, Emma R.;
Bowers, Naomi L.;
Wallace, Andrew J.;
Howell, Sacha J.;
Howell, Anthony;
Lalloo, Fiona;
Newman, William G.;
Smith, Miriam J.

Publication type:

Article