Works by Hamel, Nancy

Results: 37

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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