Works matching IS 13899600 AND DT 2020 AND VI 19 AND IP 2

Results: 10

Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 169, doi. 10.1007/s10689-020-00161-w
By:
- Brand, Randall E.;
- Dudley, Beth;
- Karloski, Eve;
- Das, Rohit;
- Fuhrer, Kimberly;
- Pai, Rish K.;
- Pai, Reetesh K.
Publication type:
Article
Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 143, doi. 10.1007/s10689-020-00166-5
By:
- Ghezelayagh, Talayeh S.;
- Stewart, Lauren E.;
- Norquist, Barbara M.;
- Bowen, Deborah J.;
- Yu, Vivian;
- Agnew, Kathy J.;
- Pennington, Kathryn P.;
- Swisher, Elizabeth M.
Publication type:
Article
Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 123, doi. 10.1007/s10689-020-00163-8
By:
- Toh, Ming Ren;
- Low, Chen Ee;
- Chong, Siao Ting;
- Chan, Sock Hoai;
- Ishak, Nur Diana Binte;
- Courtney, Eliza;
- Kolinjivadi, Arun Mouli;
- Rodrigue, Amélie;
- Masson, Jean-Yves;
- Ngeow, Joanne
Publication type:
Article
Increased prevalence of Barrett's esophagus in patients with MUTYH-associated polyposis (MAP).
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 183, doi. 10.1007/s10689-020-00162-9
By:
- Daans, Ceranza G.;
- Ghorbanoghli, Zeinab;
- Velthuizen, Mary E.;
- Vasen, Hans F. A.;
- Offerhaus, George J. A.;
- Lacle, Miangela M.;
- Siersema, Peter D.;
- Ausems, Margreet G. E. M.;
- Boonstra, Jurjen J.
Publication type:
Article
Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 133, doi. 10.1007/s10689-020-00160-x
By:
- Grindedal, Eli Marie;
- Jørgensen, Kjersti;
- Olsson, Pernilla;
- Gravdehaug, Berit;
- Lurås, Hilde;
- Schlichting, Ellen;
- Vamre, Tone;
- Wangensteen, Teresia;
- Heramb, Cecilie;
- Mæhle, Lovise
Publication type:
Article
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 161, doi. 10.1007/s10689-020-00159-4
By:
- Morak, Monika;
- Steinke-Lange, Verena;
- Massdorf, Trisari;
- Benet-Pages, Anna;
- Locher, Melanie;
- Laner, Andreas;
- Kayser, Katrin;
- Aretz, Stefan;
- Holinski-Feder, Elke
Publication type:
Article
Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 177, doi. 10.1007/s10689-020-00158-5
By:
- Kalamo, Mari H.;
- Mäenpää, J. U.;
- Seppälä, T. T.;
- Mecklin, J. P.;
- Huhtala, H.;
- Sorvettula, K.;
- Pylvänäinen, K.;
- Staff, S.
Publication type:
Article
De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 193, doi. 10.1007/s10689-019-00157-1
By:
- Bernstein Molho, Rinat;
- Zalmanoviz, Shelly;
- Laitman, Yael;
- Friedman, Eitan
Publication type:
Article
The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 153, doi. 10.1007/s10689-019-00156-2
By:
- Bleijenberg, Arne G.C.;
- IJspeert, Joep E.G.;
- Rodríguez-Alcalde, Daniel;
- Carballal, Sabela;
- Visser, Maurits R.;
- Pellise, Maria;
- Koornstra, Jan Jacob;
- Rana, Salman A.;
- Latchford, Andrew;
- Balaguer, Francesc;
- Dekker, Evelien
Publication type:
Article
Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report.
Published in:
Familial Cancer, 2020, v. 19, n. 2, p. 189, doi. 10.1007/s10689-019-00152-6
By:
- Brock, Pamela;
- Bustamante Alvarez, Jean;
- Mortazavi, Amir;
- Roychowdhury, Sameek;
- Phay, John;
- Khawaja, Raheela A.;
- Shah, Manisha H.;
- Konda, Bhavana
Publication type:
Article