Imyanitov, Evgeny N EN; Kuligina, Ekaterina S ES; Sokolenko, Anna P AP; Suspitsin, Evgeny N EN; Yanus, Grigoriy A GA; Iyevleva, Aglaya G AG; Ivantsov, Alexandr O AO; Aleksakhina, Svetlana N SN
Strong Hereditary Predispositions to Colorectal Cancer.
Genes
Hryhorowicz, Szymon S; Kaczmarek-Ryś, Marta M; Lis-Tanaś, Emilia E; Porowski, Jakub J; Szuman, Marcin M; Grot, Natalia N; Kryszczyńska, Alicja A; Paszkowski, Jacek J; Banasiewicz, Tomasz T; Pławski, Andrzej A
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Frontiers In Medicine
Nunziato, Marcella M; Di Maggio, Federica F; Pensabene, Matilde M; Esposito, Maria Valeria MV; Starnone, Flavio F; De Angelis, Carmine C; Calabrese, Alessandra A; D'Aiuto, Massimiliano M; Botti, Gerardo G; De Placido, Sabino S; D'Argenio, Valeria V; Salvatore, Francesco F
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Esmo Open
Bono, M M; Fanale, D D; Incorvaia, L L; Cancelliere, D D; Fiorino, A A; Calò, V V; Dimino, A A; Filorizzo, C C; Corsini, L R LR; Brando, C C; Madonia, G G; Cucinella, A A; Scalia, R R; Barraco, N N; Guadagni, F F; Pedone, E E; Badalamenti, G G; Russo, A A; Bazan, V V
Publication Date: 2021-08
Variant appearance in text: MSH2: 494A>G; Tyr165Cys
Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.
Jnci Cancer Spectrum
Klek, Stefan S; Heald, Brandie B; Milinovich, Alex A; Ni, Ying Y; Abraham, Jame J; Mahdi, Haider H; Estfan, Bassam B; Khorana, Alok A AA; Bolwell, Brian J BJ; Grivas, Petros P; Sohal, Davendra P S DPS; Funchain, Pauline P
Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.
Non-Coding Rna Research
Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Al-Allaf, Faisal A FA; Al-Dehlawi, Saied S; Vazquez, Jose R JR
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04
Variant appearance in text: MSH2: 494A>G; Tyr165Cys
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kurian, Allison W AW; Hare, Emily E EE; Mills, Meredith A MA; Kingham, Kerry E KE; McPherson, Lisa L; Whittemore, Alice S AS; McGuire, Valerie V; Ladabaum, Uri U; Kobayashi, Yuya Y; Lincoln, Stephen E SE; Cargill, Michele M; Ford, James M JM
Publication Date: 2014-07-01
Variant appearance in text: MSH2: 494A>G; Tyr165Cys
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
American Journal Of Human Genetics
Johnston, Jennifer J JJ; Rubinstein, Wendy S WS; Facio, Flavia M FM; Ng, David D; Singh, Larry N LN; Teer, Jamie K JK; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2012-07-13
Variant appearance in text: MSH2: 494A>G; Tyr165Cys
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
Gut
Woods, M O MO; Younghusband, H B HB; Parfrey, P S PS; Gallinger, S S; McLaughlin, J J; Dicks, E E; Stuckless, S S; Pollett, A A; Bapat, B B; Mrkonjic, M M; de la Chapelle, A A; Clendenning, M M; Thibodeau, S N SN; Simms, M M; Dohey, A A; Williams, P P; Robb, D D; Searle, C C; Green, J S JS; Green, R C RC
Allele-specific expression of APC in adenomatous polyposis families.
Gastroenterology
Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G
Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Cook-Deegan, Robert R; DeRienzo, Christopher C; Carbone, Julia J; Chandrasekharan, Subhashini S; Heaney, Christopher C; Conover, Christopher C
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
Dna Repair
Kundu, Sucharita S; Brinkmeyer, Megan K MK; Livingston, Alison L AL; David, Sheila S SS
The signatures of autozygosity among patients with colorectal cancer.
Cancer Research
Bacolod, Manny D MD; Schemmann, Gunter S GS; Wang, Shuang S; Shattock, Richard R; Giardina, Sarah F SF; Zeng, Zhaoshi Z; Shia, Jinru J; Stengel, Robert F RF; Gerry, Norman N; Hoh, Josephine J; Kirchhoff, Tomas T; Gold, Bert B; Christman, Michael F MF; Offit, Kenneth K; Gerald, William L WL; Notterman, Daniel A DA; Ott, Jurg J; Paty, Philip B PB; Barany, Francis F
Lefevre, Jérémie H JH; Rodrigue, Christelle M CM; Mourra, Najat N; Bennis, Malika M; Flejou, Jean-François JF; Parc, Rolland R; Tiret, Emmanuel E; Gespach, Christian C; Parc, Yann R YR