Works matching IS 13899600 AND DT 2023 AND VI 22 AND IP 4

Results: 16

Balancing the burden and benefits of colonoscopy in Lynch Syndrome.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 399, doi. 10.1007/s10689-023-00347-y
By:
- Macrae, Finlay
Publication type:
Article
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 521, doi. 10.1007/s10689-023-00346-z
By:
- Fillman, Corrine;
- Anantharajah, Arravinth;
- Marmelstein, Briana;
- Dillon, Monica;
- Horton, Carolyn;
- Peterson, Candace;
- Lopez, Joseph;
- Tondon, Rashmi;
- Brannan, Terra;
- Katona, Bryson W
Publication type:
Article
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 459, doi. 10.1007/s10689-023-00345-0
By:
- Sandoval, Renata L.;
- Horiguchi, Miki;
- Ukaegbu, Chinedu;
- Furniss, C. Sloane;
- Uno, Hajime;
- Syngal, Sapna;
- Yurgelun, Matthew B.
Publication type:
Article
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 449, doi. 10.1007/s10689-023-00344-1
By:
- Nguyen, Huu-Thinh;
- Lu, Y-Thanh;
- Tran, Duc-Huy;
- Tieu, Ba-Linh;
- Le, Kien-Trung;
- Pham, Truong-Vinh Ngoc;
- Do, Thanh-Thuy Thi;
- Truong, Dinh-Kiet;
- Giang, Hoa;
- Tang, Hung-Sang
Publication type:
Article
Germline whole genome sequencing in adults with multiple primary tumors.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 513, doi. 10.1007/s10689-023-00343-2
By:
- Wang, Yiming;
- Ding, Qiliang;
- Prokopec, Stephenie;
- Farncombe, Kirsten M.;
- Bruce, Jeffrey;
- Casalino, Selina;
- McCuaig, Jeanna;
- Szybowska, Marta;
- van Engelen, Kalene;
- Lerner-Ellis, Jordan;
- Pugh, Trevor J.;
- Kim, Raymond H.
Publication type:
Article
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 481, doi. 10.1007/s10689-023-00335-2
By:
- Chami, Anisse;
- de Souza Zózimo, Thalía Rodrigues;
- Alves, Thamiris Matias;
- Matosinho, Carolina Guimarães Ramos;
- Santos, Cleydson;
- Simões, Marcela Mattos;
- Cabral, Walter Luiz Ribeiro;
- de Paula Ricardo, Bernardo Ferreira;
- da Silva Filho, Agnaldo Lopes;
- Carvalho, Maria Raquel Santos;
- da Conceição Braga, Letícia
Publication type:
Article
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon's practice in a large US Academic Center.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 467, doi. 10.1007/s10689-023-00342-3
By:
- Chai, Teresa S.;
- Yin, Kanhua;
- Wooters, Mackenzie;
- Shannon, Kristen M.;
- Hughes, Kevin S.
Publication type:
Article
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 495, doi. 10.1007/s10689-023-00339-y
By:
- Struewe, Farina J.;
- Schott, Sarah;
- de Zwaan, Martina;
- Kratz, Christian P.
Publication type:
Article
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 429, doi. 10.1007/s10689-023-00338-z
By:
- Jelsig, Anne Marie;
- van Overeem Hansen, Thomas;
- Gede, Lene Bjerring;
- Qvist, Niels;
- Christensen, Lise-Lotte;
- Lautrup, Charlotte Kvist;
- Ljungmann, Ken;
- Christensen, Louise Torp;
- Rønlund, Karina;
- Tørring, Pernille Mathiesen;
- Bertelsen, Birgitte;
- Sunde, Lone;
- Karstensen, John Gásdal
Publication type:
Article
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 423, doi. 10.1007/s10689-023-00337-0
By:
- Walker, Romy;
- Clendenning, Mark;
- Joo, Jihoon E.;
- Xue, Jessie;
- Mahmood, Khalid;
- Georgeson, Peter;
- Como, Julia;
- Joseland, Sharelle;
- Preston, Susan G.;
- Chan, James M.;
- Jenkins, Mark A.;
- Rosty, Christophe;
- Macrae, Finlay A.;
- Di Palma, Stephanie;
- Campbell, Ainsley;
- Winship, Ingrid M.;
- Buchanan, Daniel D.
Publication type:
Article
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 437, doi. 10.1007/s10689-023-00341-4
By:
- Hodan, Rachel;
- Rodgers-Fouche, Linda;
- Chittenden, Anu;
- Dominguez-Valentin, Mev;
- Ferriss, James;
- Gima, Lauren;
- Hamnvik, Ole-Petter R.;
- Idos, Gregory E.;
- Kline, Kevin;
- Koeller, Diane R.;
- Long, Jessica M.;
- McKenna, Danielle;
- Muller, Charles;
- Thoman, Maxton;
- Wintner, Anton;
- Bedrick, Bronwyn S.
Publication type:
Article
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 499, doi. 10.1007/s10689-023-00340-5
By:
- Wilding, Mathilda;
- Fleming, Jane;
- Moore, Katrina;
- Crook, Ashley;
- Reddy, Ranjani;
- Choi, Sarah;
- Schlub, Timothy E.;
- Field, Michael;
- Thiyagarajan, Lavvina;
- Thompson, Jeff;
- Berman, Yemima
Publication type:
Article
Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 413, doi. 10.1007/s10689-023-00334-3
By:
- Stone, J. K.;
- Mehta, N. A.;
- Singh, H.;
- El-Matary, W.;
- Bernstein, C. N.
Publication type:
Article
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 403, doi. 10.1007/s10689-023-00333-4
By:
- van Liere, Elsa L. S. A.;
- Jacobs, Imke L.;
- Dekker, Evelien;
- Jacobs, Maarten A. J. M.;
- de Boer, Nanne K. H.;
- Ramsoekh, Dewkoemar
Publication type:
Article
Unusual phenotypes in patients with a pathogenic germline variant in DICER1.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 475, doi. 10.1007/s10689-021-00271-z
By:
- Venger, Kateryna;
- Elbracht, Miriam;
- Carlens, Julia;
- Deutz, Peter;
- Zeppernick, Felix;
- Lassay, Lisa;
- Kratz, Christian;
- Zenker, Martin;
- Kim, Jung;
- Stewart, Douglas R.;
- Wieland, Ilse;
- Schultz, Kris Ann P.;
- Schwerk, Nicolaus;
- Kurth, Ingo;
- Kontny, Udo
Publication type:
Article
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 487, doi. 10.1007/s10689-023-00336-1
By:
- Apellaniz-Ruiz, Maria;
- Sabbaghian, Nelly;
- Chong, Anne-Laure;
- de Kock, Leanne;
- Cetinkaya, Semra;
- Bayramoğlu, Elvan;
- Dinjens, Winand N. M.;
- McCluggage, W. Glenn;
- Wagner, Anja;
- Yilmaz, Aslihan Arasli;
- Foulkes, William D.
Publication type:
Article