Works matching IS 13899600 AND DT 2022 AND VI 21 AND IP 3

Results: 16

Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 375, doi. 10.1007/s10689-021-00276-8

By:

Dettwyler, Shenin A.;
Koeppe, Erika S.;
Jacobs, Michelle F.;
Stoffel, Elena M.

Publication type:

Article

Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.

Published in:

2022

By:

Dettwyler, Shenin A.;
Koeppe, Erika S.;
Jacobs, Michelle F.;
Stoffel, Elena M.

Publication type:

Correction Notice

Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 305, doi. 10.1007/s10689-021-00278-6

By:

Laitman, Yael;
Nielsen, Sarah M.;
Hatchell, Kathryn E.;
Truty, Rebecca;
Bernstein-Molho, Rinat;
Esplin, Edward D.;
Friedman, Eitan

Publication type:

Article

Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 295, doi. 10.1007/s10689-021-00277-7

By:

Bokkers, Kyra;
Zweemer, Ronald P.;
Koudijs, Marco J.;
Stehouwer, Sanne;
Velthuizen, Mary E.;
Bleiker, Eveline M. A.;
Ausems, Margreet G. E. M.

Publication type:

Article

Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 309, doi. 10.1007/s10689-021-00281-x

By:

Bonelli, Luigina;
Valle, Ivana;
Rebora, Ivana;
Ricci, Paola;
Biocchi, Lidia;
Bruschi, Giovanna;
Parodi, Sabrina;
Bruzzone, Carla;
Varesco, Liliana

Publication type:

Article

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 325, doi. 10.1007/s10689-021-00280-y

By:

Jensen, Janni M.;
Skakkebæk, Anne;
Gaustadness, Mette;
Sommerlund, Mette;
Gjørup, Hans;
Ljungmann, Ken;
Lautrup, Charlotte K.;
Sunde, Lone

Publication type:

Article

Eighth International Symposium on hereditary breast and ovarian cancer: May 4–7, 2021 – Virtual Edition.

Published in:: Familial Cancer, 2022, v. 21, n. 3, p. 255, doi. 10.1007/s10689-021-00273-x
Publication type:: Article

Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome.

Published in:

2022

By:

Dawson, Hannah;
Smrke, Alannah;
Ellery, Peter M.;
Wilkinson, Nafisa;
Rosenthal, Adam N.;
McVeigh, Terri P.

Publication type:

Case Study

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 319, doi. 10.1007/s10689-021-00274-w

By:

Pierre-Noël, Elise;
Airaud, Fabrice;
Cauchin, Estelle;
Garrec, Céline;
Ricordeau, Ingrid;
Michon, Clémence;
Kerdraon, Olivier;
Bezieau, Stéphane;
Abadie, Caroline

Publication type:

Article

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome.

Published in:

2022

By:

Foo, Tiffany;
Nama, Vivek;
Attygalle, Ayoma D.;
Williams, Jonathan;
Heelan, Kara;
Butler, Samantha;
McVeigh, Terri P.

Publication type:

Case Study

Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 369, doi. 10.1007/s10689-021-00270-0

By:

Braley, Eryn F.;
Bedard, Angela C.;
Nuk, Jennifer;
Hong, Quan;
Bedard, James E. J.;
Sun, Sophie;
Schrader, Kasmintan A.

Publication type:

Article

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 343, doi. 10.1007/s10689-021-00269-7

By:

Smith, Miriam J.;
Evans, D. Gareth

Publication type:

Article

A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.

Published in:

2022

By:

Taniguchi, Rieko;
Muramatsu, Hideki;
Okuno, Yusuke;
Yoshida, Taro;
Wakamatsu, Manabu;
Hamada, Motoharu;
Shirota, Chiyoe;
Sumida, Wataru;
Hinoki, Akinari;
Tainaka, Takahisa;
Gotoh, Yoshimitsu;
Tsuzuki, Toyonori;
Tanaka, Yukichi;
Kojima, Seiji;
Uchida, Hiroo;
Takahashi, Yoshiyuki

Publication type:

Case Study

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 347, doi. 10.1007/s10689-021-00267-9

By:

Brown, Kevin M.;
Xu, Mai;
Sargen, Michael;
Jang, Hyunbum;
Zhang, Mingzhen;
Zhang, Tongwu;
Zhu, Bin;
Jones, Kristie;
Kim, Jung;
Mendoza, Laura;
Hayward, Nicholas K.;
Tucker, Margaret A.;
Goldstein, Alisa M.;
Yang, Xiaohong Rose;
Stewart, Douglas R.;
Hicks, Belynda;
Consonni, Dario;
Pesatori, Angela C.;
Fargnoli, Maria Concetta;
Peris, Ketty

Publication type:

Article

Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 333, doi. 10.1007/s10689-021-00265-x

By:

Oba, Leatrisse;
Best, Ana F.;
Mai, Phuong L.;
Achatz, Maria Isabel;
Albert, Paul S.;
Savage, Sharon A.;
Khincha, Payal P.

Publication type:

Article

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel.

Published in:

Familial Cancer, 2022, v. 21, n. 3, p. 289, doi. 10.1007/s10689-021-00262-0

By:

Reznick Levi, Gili;
Larom, Gal;
Ofen Glassner, Vered;
Ekhilevitch, Nina;
Sharon Swartzman, Nitzan;
Paperna, Tamar;
Baris-Feldman, Hagit;
Weiss, Karin

Publication type:

Article