Works matching AU Hamel, Nancy

Results: 37

Increased risk of head and neck cancer in association with GSTT1 nullizygosity for individuals with low exposure to tobacco.
Published in:
International Journal of Cancer, 2000, v. 87, n. 3, p. 452, doi. 10.1002/1097-0215(20000801)87:3<452::AID-IJC22>3.0.CO;2-W
By:
- Hamel, Nancy;
- Karimi, Sepideh;
- Hébert-Blouin, Marie-Noël;
- Brunet, Jean-Sébastien;
- Gilfix, Brian;
- Ghadirian, Parviz;
- Black, Martin J.;
- Narod, Steven A.;
- Foulkes, William D.
Publication type:
Article
An absence of founder BRCA2 mutations in individuals with squamous cell carcinoma of the head and neck.
Published in:
International Journal of Cancer, 1999, v. 83, n. 6, p. 803, doi. 10.1002/(SICI)1097-0215(19991210)83:6<803::AID-IJC17>3.0.CO;2-N
By:
- Hamel, Nancy;
- Manning, Andrew;
- Black, Martin J.;
- Tonin, Patricia N.;
- Foulkes, William D.
Publication type:
Article
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Published in:
Cell Death & Disease, 2021, v. 12, n. 9, p. 1, doi. 10.1038/s41419-021-04130-8
By:
- Biswas, Kajal;
- Couillard, Martin;
- Cavallone, Luca;
- Burkett, Sandra;
- Stauffer, Stacey;
- Martin, Betty K.;
- Southon, Eileen;
- Reid, Susan;
- Plona, Teri M.;
- Baugher, Ryan N.;
- Mellott, Stephanie D.;
- Pike, Kristen M.;
- Albaugh, Mary E.;
- Maedler-Kron, Chelsea;
- Hamel, Nancy;
- Tessarollo, Lino;
- Marcus, Victoria;
- Foulkes, William D.;
- Sharan, Shyam K.
Publication type:
Article
DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors.
Published in:
JAMA: Journal of the American Medical Association, 2011, v. 305, n. 1, p. 68, doi. 10.1001/jama.2010.1910
By:
- Frio, Thomas Rio;
- Bahubeshi, Amin;
- Kanellopoulou, Chryssa;
- Hamel, Nancy;
- Niedziela, Marek;
- Sabbaghian, Nelly;
- Pouchet, Carly;
- Gilbert, Lucy;
- O'Brien, Paul K.;
- Serfas, Kim;
- Broderick, Peter;
- Houlston, Richard S.;
- Lesueur, Fabienne;
- Bonora, Elena;
- Muljo, Stefan;
- Schimke, R. Neil;
- Soglio, Dorothée Bouron-Dal;
- Arseneau, Jocelyne;
- Schultz, Kris Ann;
- Priest, John R.
Publication type:
Article
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00315-8
By:
- Matis, Thibaut S.;
- Zayed, Nadia;
- Labraki, Bouchra;
- de Ladurantaye, Manon;
- Matis, Théophane A.;
- Camacho Valenzuela, José;
- Hamel, Nancy;
- Atayan, Adrienne;
- Rivera, Barbara;
- Tabach, Yuval;
- Tonin, Patricia N.;
- Orthwein, Alexandre;
- Mes-Masson, Anne-Marie;
- El Haffaf, Zaki;
- Foulkes, William D.;
- Polak, Paz
Publication type:
Article
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63100-w
By:
- Behl, Supriya;
- Hamel, Nancy;
- de Ladurantaye, Manon;
- Lepage, Stéphanie;
- Lapointe, Réjean;
- Mes-Masson, Anne-Marie;
- Foulkes, William D.
Publication type:
Article
Extending the phenotypes associated with DICER1 mutations.
Published in:
Human Mutation, 2011, v. 32, n. 12, p. 1381, doi. 10.1002/humu.21600
By:
- Foulkes, William D.;
- Bahubeshi, Amin;
- Hamel, Nancy;
- Pasini, Barbara;
- Asioli, Sofia;
- Baynam, Gareth;
- Choong, Catherine S.;
- Charles, Adrian;
- Frieder, Richard P.;
- Dishop, Megan K.;
- Graf, Nicole;
- Ekim, Mesiha;
- Bouron-Dal Soglio, Dorothée;
- Arseneau, Jocelyne;
- Young, Robert H.;
- Sabbaghian, Nelly;
- Srivastava, Archana;
- Tischkowitz, Marc D.;
- Priest, John R.
Publication type:
Article
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
Published in:
Human Mutation, 2009, v. 30, n. 11, p. 1543, doi. 10.1002/humu.21101
By:
- Li, Lili;
- Biswas, Kajal;
- Habib, Laura Anne;
- Kuznetsov, Sergey G.;
- Hamel, Nancy;
- Kirchhoff, Tomas;
- Wong, Nora;
- Armel, Susan;
- Chong, George;
- Narod, Steven A.;
- Claes, Kathleen;
- Offit, Kenneth;
- Robson, Mark E.;
- Stauffer, Stacey;
- Sharan, Shyam K.;
- Foulkes, William D.
Publication type:
Article
A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.
Published in:
Journal of Human Genetics, 2010, v. 55, n. 9, p. 627, doi. 10.1038/jhg.2010.70
By:
- Yilmaz, Ahmet;
- Hamel, Nancy;
- Schwartz, Charles E;
- Houlston, Richard S;
- Harper, John I;
- Foulkes, William D
Publication type:
Article
Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma.
Published in:
Cancer (0008543X), 2003, v. 97, n. 3, p. 527, doi. 10.1002/cncr.11080
By:
- Goffin, John R.;
- Chappuis, Pierre O.;
- Bégin, Louis R.;
- Wong, Nora;
- Brunet, Jean-Sébastien;
- Hamel, Nancy;
- Paradis, Ann-Josée;
- Boyd, Jeff;
- Foulkes, William D.
Publication type:
Article
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.
Published in:
JAMA Network Open, 2024, v. 7, n. 9, p. e2431427, doi. 10.1001/jamanetworkopen.2024.31427
By:
- Rezoug, Zoulikha;
- Totten, Stephanie P.;
- Szlachtycz, David;
- Atayan, Adrienne;
- Mohler, Kristen;
- Albert, Sophie;
- Feng, Leila;
- Lemieux Anglin, Brianna;
- Shen, Zhen;
- Jimenez, Daniel;
- Hamel, Nancy;
- Meti, Nicholas;
- Esfahani, Khashayar;
- Boileau, Jean-François;
- Prakash, Ipshita;
- Basik, Mark;
- Meterissian, Sarkis;
- Tremblay, Francine;
- Fleiszer, David;
- Anderson, Dawn
Publication type:
Article
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 564, doi. 10.1038/ejhg.2013.215
By:
- Sabbaghian, Nelly;
- Srivastava, Archana;
- Hamel, Nancy;
- Plourde, François;
- Gajtko-Metera, Malgorzata;
- Niedziela, Marek;
- Foulkes, William D
Publication type:
Article
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 300, doi. 10.1038/ejhg.2010.203
By:
- Hamel, Nancy;
- Feng, Bing-Jian;
- Foretova, Lenka;
- Stoppa-Lyonnet, Dominique;
- Narod, Steven A;
- Imyanitov, Evgeny;
- Sinilnikova, Olga;
- Tihomirova, Laima;
- Lubinski, Jan;
- Gronwald, Jacek;
- Gorski, Bohdan;
- Hansen, Thomas v O;
- Nielsen, Finn C;
- Thomassen, Mads;
- Yannoukakos, Drakoulis;
- Konstantopoulou, Irene;
- Zajac, Vladimir;
- Ciernikova, Sona;
- Couch, Fergus J;
- Greenwood, Celia M T
Publication type:
Article
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13
By:
- Tischkowitz, Marc;
- Hamel, Nancy;
- Carvalho, Marcelo A.;
- Birrane, Gabriel;
- Soni, Aditi;
- van Beers, Erik H.;
- Joosse, Simon A.;
- Wong, Nora;
- Novak, David;
- Quenneville, Louise A.;
- Grist, Scott A.;
- Nederlof, Petra M.;
- Goldgar, David E.;
- Tavtigian, Sean V.;
- Monteiro, Alvaro N.;
- Ladias, John A. A.;
- Foulkes, William D.
Publication type:
Article
Molecular characterization of DICER1-mutated pituitary blastoma.
Published in:
Acta Neuropathologica, 2021, v. 141, n. 6, p. 929, doi. 10.1007/s00401-021-02283-6
By:
- Nadaf, Javad;
- de Kock, Leanne;
- Chong, Anne-Sophie;
- Korbonits, Márta;
- Thorner, Paul;
- Benlimame, Naciba;
- Fu, Lili;
- Peet, Andrew;
- Warner, Justin;
- Ploner, Oswald;
- Shuangshoti, Shanop;
- Albrecht, Steffen;
- Hamel, Nancy;
- Priest, John R.;
- Rivera, Barbara;
- Ragoussis, Jiannis;
- Foulkes, William D.
Publication type:
Article
Germ-line and somatic DICER1 mutations in pineoblastoma.
Published in:
Acta Neuropathologica, 2014, v. 128, n. 4, p. 583, doi. 10.1007/s00401-014-1318-7
By:
- Kock, Leanne;
- Sabbaghian, Nelly;
- Druker, Harriet;
- Weber, Evan;
- Hamel, Nancy;
- Miller, Suzanne;
- Choong, Catherine;
- Gottardo, Nicholas;
- Kees, Ursula;
- Rednam, Surya;
- Hest, Liselotte;
- Jongmans, Marjolijn;
- Jhangiani, Shalini;
- Lupski, James;
- Zacharin, Margaret;
- Bouron-Dal Soglio, Dorothée;
- Huang, Annie;
- Priest, John;
- Perry, Arie;
- Mueller, Sabine
Publication type:
Article
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Published in:
Acta Neuropathologica, 2014, v. 128, n. 1, p. 111, doi. 10.1007/s00401-014-1285-z
By:
- Kock, Leanne;
- Sabbaghian, Nelly;
- Plourde, François;
- Srivastava, Archana;
- Weber, Evan;
- Bouron-Dal Soglio, Dorothée;
- Hamel, Nancy;
- Choi, Joon;
- Park, Sung-Hye;
- Deal, Cheri;
- Kelsey, Megan;
- Dishop, Megan;
- Esbenshade, Adam;
- Kuttesch, John;
- Jacques, Thomas;
- Perry, Arie;
- Leichter, Heinz;
- Maeder, Philippe;
- Brundler, Marie-Anne;
- Warner, Justin
Publication type:
Article
Nuclear genes associated with a single Brassica CMS...
Published in:
Genetics, 1996, v. 143, n. 1, p. 505, doi. 10.1093/genetics/143.1.505
By:
- Singh, Mahipal;
- Hamel, Nancy
Publication type:
Article
Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.
Published in:
2008
By:
- Novak DJ;
- Chen LQ;
- Ghadirian P;
- Hamel N;
- Zhang P;
- Rossiny V;
- Cardinal G;
- Robidoux A;
- Tonin PN;
- Rousseau F;
- Narod SA;
- Foulkes WD;
- Novak, David J;
- Chen, Long Qi;
- Ghadirian, Parviz;
- Hamel, Nancy;
- Zhang, Phil;
- Rossiny, Vanessa;
- Cardinal, Guy;
- Robidoux, André
Publication type:
journal article
Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.
Published in:
BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-239
By:
- Novak, David J.;
- Long Qi Chen;
- Ghadirian, Parviz;
- Hamel, Nancy;
- Zhang, Phil;
- Rossiny, Vanessa;
- Cardinal, Guy;
- Robidoux, André;
- Tonin, Patricia N.;
- Rousseau, Francois;
- Narod, Steven A.;
- Foulkes, William D.
Publication type:
Article
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Published in:
2020
By:
- Rivera, Barbara;
- Nadaf, Javad;
- Fahiminiya, Somayyeh;
- Apellaniz-Ruiz, Maria;
- Saskin, Avi;
- Chong, Anne-Sophie;
- Sharma, Sahil;
- Wagener, Rabea;
- Revil, Timothée;
- Condello, Vincenzo;
- Harra, Zineb;
- Hamel, Nancy;
- Sabbaghian, Nelly;
- Muchantef, Karl;
- Thomas, Christian;
- de Kock, Leanne;
- Hébert-Blouin, Marie-Noëlle;
- Bassenden, Angelia V.;
- Rabenstein, Hannah;
- Mete, Ozgur
Publication type:
journal article
Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene.
Published in:
Carcinogenesis, 2004, v. 25, n. 3, p. 369
By:
- Athena Matakidou;
- Nancy Hamel;
- Sanjay Popat;
- Kiersten Henderson;
- Tania Kantemiroff;
- Clive Harmer;
- Susan E.M. Clarke;
- Richard S. Houlston;
- William D. Foulkes
Publication type:
Article
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 438, doi. 10.1038/ng.2931
By:
- Witkowski, Leora;
- Carrot-Zhang, Jian;
- Albrecht, Steffen;
- Fahiminiya, Somayyeh;
- Hamel, Nancy;
- Tomiak, Eva;
- Grynspan, David;
- Saloustros, Emmanouil;
- Nadaf, Javad;
- Rivera, Barbara;
- Gilpin, Catherine;
- Castellsagué, Ester;
- Silva-Smith, Rachel;
- Plourde, François;
- Wu, Mona;
- Saskin, Avi;
- Arseneault, Madeleine;
- Karabakhtsian, Rouzan G;
- Reilly, Elizabeth A;
- Ueland, Frederick R
Publication type:
Article
Phase II trial of the ribonucleotide reductase inhibitor 3-aminopyridine-2-carboxaldehydethiosemicarbazone plus gemcitabine in patients with advanced biliary tract cancer.
Published in:
Cancer Chemotherapy & Pharmacology, 2011, v. 68, n. 2, p. 379, doi. 10.1007/s00280-010-1481-z
By:
- Ocean, Allyson;
- Christos, Paul;
- Sparano, Joseph;
- Matulich, Dan;
- Kaubish, Andreas;
- Siegel, Abby;
- Sung, Max;
- Ward, Maureen;
- Hamel, Nancy;
- Espinoza-Delgado, Igor;
- Yen, Yun;
- Lane, Maureen
Publication type:
Article
Circulating tumor DNA is readily detectable among Ghanaian breast cancer patients supporting non-invasive cancer genomic studies in Africa.
Published in:
NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00219-7
By:
- Ahuno, Samuel Terkper;
- Doebley, Anna-Lisa;
- Ahearn, Thomas U.;
- Yarney, Joel;
- Titiloye, Nicholas;
- Hamel, Nancy;
- Adjei, Ernest;
- Clegg-Lamptey, Joe-Nat;
- Edusei, Lawrence;
- Awuah, Baffour;
- Song, Xiaoyu;
- Vanderpuye, Verna;
- Abubakar, Mustapha;
- Duggan, Maire;
- Stover, Daniel G.;
- Nyarko, Kofi;
- Bartlett, John M. S.;
- Aitpillah, Francis;
- Ansong, Daniel;
- Gardner, Kevin L.
Publication type:
Article
The Great Majority of Homologous Recombination Repair-Deficient Tumors Are Accounted for by Established Causes.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.852159
By:
- Štancl, Paula;
- Hamel, Nancy;
- Sigel, Keith M.;
- Foulkes, William D.;
- Karlić, Rosa;
- Polak, Paz
Publication type:
Article
BRCA mutations and ductal carcinoma in situ.
Published in:
2005
By:
- Foulkes WD;
- Hamel N;
- Oros KK;
- Claus EB;
- Matloff E;
- Carter D;
- Foulkes, William D;
- Hamel, Nancy;
- Oros, Kathleen Klein;
- Tonin, Patricia N
Publication type:
commentary
BRCA Mutations and Ductal Carcinoma In Situ.
Published in:
2005
By:
- Foulkes, William D.;
- Hamel, Nancy;
- Oros, Kathleen Klein
Publication type:
Letter
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81106-w
By:
- Elkholi, Islam E.;
- Di Iorio, Massimo;
- Fahiminiya, Somayyeh;
- Arcand, Suzanna L.;
- Han, HyeRim;
- Nogué, Clara;
- Behl, Supriya;
- Hamel, Nancy;
- Giroux, Sylvie;
- de Ladurantaye, Manon;
- Aleynikova, Olga;
- Gotlieb, Walter H.;
- Côté, Jean-François;
- Rousseau, François;
- Tonin, Patricia N.;
- Provencher, Diane;
- MesMasson, Anne-Marie;
- Akbari, Mohammad R.;
- Rivera, Barbara;
- Foulkes, William D.
Publication type:
Article
How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.
Published in:
BMC Genetics, 2010, v. 11, p. 39, doi. 10.1186/1471-2156-11-39
By:
- Greenwood, Celia M. T;
- Shuying Sun;
- Veenstra, Justin;
- Hamel, Nancy;
- Niell, Bethany;
- Gruber, Stephen;
- Foulkes, William D.
Publication type:
Article
Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
Published in:
Familial Cancer, 2011, v. 10, n. 4, p. 691, doi. 10.1007/s10689-011-9472-8
By:
- Villeneuve, Hugo;
- Tremblay, Steve;
- Galiatsatos, Polymnia;
- Hamel, Nancy;
- Guertin, Louis;
- Morency, Renald;
- Tischkowitz, Marc
Publication type:
Article
Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.
Published in:
Journal of Pathology: Clinical Research, 2018, v. 4, n. 3, p. 167, doi. 10.1002/cjp2.104
By:
- Bah, Ismaël;
- Fahiminiya, Somayyeh;
- Bégin, Louis R.;
- Hamel, Nancy;
- D'Agostino, Maria D.;
- Tanguay, Simon;
- Foulkes, William D.
Publication type:
Article
Familial rhabdoid tumour ' avant la lettre'-from pathology review to exome sequencing and back again.
Published in:
Journal of Pathology, 2013, v. 231, n. 1, p. 35, doi. 10.1002/path.4225
By:
- Witkowski, Leora;
- Lalonde, Emilie;
- Zhang, Jian;
- Albrecht, Steffen;
- Hamel, Nancy;
- Cavallone, Luca;
- May, Sandra Thompson;
- Nicholson, James C;
- Coleman, Nicholas;
- Murray, Matthew J;
- Tauber, Peter F;
- Huntsman, David G;
- Schönberger, Stefan;
- Yandell, David;
- Hasselblatt, Martin;
- Tischkowitz, Marc D;
- Majewski, Jacek;
- Foulkes, William D
Publication type:
Article
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.
Published in:
Pediatric Blood & Cancer, 2013, v. 60, n. 12, p. 2091, doi. 10.1002/pbc.24692
By:
- de Kock, Leanne;
- Plourde, François;
- Carter, Melissa T.;
- Hamel, Nancy;
- Srivastava, Archana;
- Meyn, M. Stephen;
- Arseneau, Jocelyne;
- Soglio, Dorothée Bouron ‐ Dal;
- Foulkes, William D.
Publication type:
Article
Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
Published in:
BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-5
By:
- Tischkowitz, Marc;
- Sabbaghian, Nelly;
- Hamel, Nancy;
- Pouchet, Carly;
- Foulkes, William D.;
- Mes-Masson, Anne-Marie;
- Provencher, Diane M.;
- Tonin, Patricia N.
Publication type:
Article
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations.
Published in:
BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-15
By:
- Rudkin, Teresa M;
- Hamel, Nancy;
- Galvez, Maria;
- Hogervorst, Frans;
- Gille, Johan JP;
- Møller, Pål;
- Apold, Jaran;
- Foulkes, William D
Publication type:
Article
Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer.
Published in:
BMC Medical Genetics, 2003, v. 4, p. 1
By:
- Hamel, Nancy;
- Kotar, Kimberley;
- Foulkes, William D.
Publication type:
Article