Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

37 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J; Breast Cancer Family Registry; Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV. Young EL, et al. Among authors: pertesi m. J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19. J Med Genet. 2016. PMID: 26787654 Free PMC article.
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.
Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, Fountzilas G, Yannoukakos D. Anagnostopoulos T, et al. Among authors: pertesi m. Breast Cancer Res Treat. 2008 Jul;110(2):377-85. doi: 10.1007/s10549-007-9729-y. Epub 2007 Sep 28. Breast Cancer Res Treat. 2008. PMID: 17902052
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen Tv, Nielsen FC, Ejlertsen B, Osorio A, Muñoz-Repeto I, Durán M, Godino J, Pertesi M, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B, Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M, Meijers-Heijboer HE, Wijnen J, Gómez García EB, Nelen MR, Kets CM, Seynaeve C, Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A, Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray A, Peock S, Godwin AK, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schäfer D, Gevensleben H, Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I, Pujol P, Coupier I, Lebru… See abstract for full author list ➔ Mulligan AM, et al. Among authors: pertesi m. Breast Cancer Res. 2011;13(6):R110. doi: 10.1186/bcr3052. Epub 2011 Nov 2. Breast Cancer Res. 2011. PMID: 22053997 Free PMC article.
Rare mutations in XRCC2 increase the risk of breast cancer.
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC. Park DJ, et al. Among authors: pertesi m. Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464251 Free PMC article.
Contribution of ATM and FOXE1 (TTF2) to risk of papillary thyroid carcinoma in Belarusian children exposed to radiation.
Damiola F, Byrnes G, Moissonnier M, Pertesi M, Deltour I, Fillon A, Le Calvez-Kelm F, Tenet V, McKay-Chopin S, McKay JD, Malakhova I, Masyakin V, Cardis E, Lesueur F, Kesminiene A. Damiola F, et al. Among authors: pertesi m. Int J Cancer. 2014 Apr 1;134(7):1659-68. doi: 10.1002/ijc.28483. Epub 2013 Oct 15. Int J Cancer. 2014. PMID: 24105688
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV. Damiola F, et al. Among authors: pertesi m. Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669. Breast Cancer Res. 2014. PMID: 24894818 Free PMC article.
Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population.
Maillard S, Damiola F, Clero E, Pertesi M, Robinot N, Rachédi F, Boissin JL, Sebbag J, Shan L, Bost-Bezeaud F, Petitdidier P, Doyon F, Xhaard C, Rubino C, Blanché H, Drozdovitch V, Lesueur F, de Vathaire F. Maillard S, et al. Among authors: pertesi m. PLoS One. 2015 Apr 7;10(4):e0123700. doi: 10.1371/journal.pone.0123700. eCollection 2015. PLoS One. 2015. PMID: 25849217 Free PMC article.
Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population.
Pereda CM, Lesueur F, Pertesi M, Robinot N, Lence-Anta JJ, Turcios S, Velasco M, Chappe M, Infante I, Bustillo M, García A, Clero E, Xhaard C, Ren Y, Maillard S, Damiola F, Rubino C, Salazar S, Rodriguez R, Ortiz RM, de Vathaire F. Pereda CM, et al. Among authors: pertesi m. BMC Genet. 2015 Mar 1;16:22. doi: 10.1186/s12863-015-0180-5. BMC Genet. 2015. PMID: 25879635 Free PMC article.
37 results