A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer

Journal of the National Cancer Institute

Volumn 107, Issue 5, 2015, Pages

  Delahaye Sourdeix, Manon ^a   Anantharaman, Devasena ^b   Timofeeva, Maria N ^a,b   Gaborieau, Valérie ^b   Chabrier, Amélie ^a   Vallée, Maxime P ^a   Lagiou, Pagona ^e   Holcátová, Ivana ^f   Richiardi, Lorenzo ^g   Kjaerheim, Kristina ^h   Agudo, Antonio ⁱ   Castellsagué, Xavier ^i,j   Macfarlane, Tatiana V ^k   Barzan, Luigi ^l   Canova, Cristina ^m,n   Thakker, Nalin S ^o   Conway, David I ^p   Znaor, Ariana ^q   Healy, Claire M ^r   Ahrens, Wolfgang ^s,t   Zaridze, David ^u   Szeszenia Dabrowska, Neonilia ^v   Lissowska, Jolanta ^w   Fabianova, Eleonora ^x   Mates, Ioan Nicolae ^y   Bencko, Vladimir ^f   Foretova, Lenka ^z   Janout, Vladimir ^aa   Curado, Maria Paula ^ab   Koifman, Sergio ^ac   Menezes, Ana ^ad   Wünsch Filho, Victor ^ae   Eluf Neto, José ^ae   Boffetta, Paolo ^af   Fernández Garrote, Leticia ^ag   Polesel, Jerry ^ah   Lener, Marcin ^ai   Jaworowska, Ewa ^aj   Lubiński, Jan ^ai   Boccia, Stefania ^ak   Rajkumar, Thangarajan ^al   Samant, Tanuja A ^am   Mahimkar, Manoj B ^am   Matsuo, Keitaro ^an,ao   Franceschi, Silvia ^c   Byrnes, Graham ^d   Brennan, Paul ^b   Mckay, James D ^a   more..

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b Genetic Epidemiology Group   (France)

^c Infections and Cancer Epidemiology Group   (France)

^d Hospices Civils de Lyon   (France)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^g CHARLES UNIVERSITY   (Czech Republic)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ CANCER REGISTRY OF NORWAY   (Norway)

^j HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^k CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^l UNIVERSITY OF ABERDEEN   (United Kingdom)

^m General Hospital of Pordenone   (Italy)

ⁿ UNIVERSITY OF PADOVA   (Italy)

^o NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^p UNIVERSITY OF MANCHESTER   (United Kingdom)

^q GLASGOW DENTAL HOSPITAL AND SCHOOL   (United Kingdom)

^r CROATIAN NATIONAL INSTITUTE OF PUBLIC HEALTH   (Croatia)

^s TRINITY COLLEGE DUBLIN   (Ireland)

^t LEIBNIZ INSTITUTE FOR PREVENTION RESEARCH AND EPIDEMIOLOGY BIPS   (Germany)

^u UNIVERSITY OF BREMEN   (Germany)

^v N N BLOKHIN RUSSIAN CANCER RESEARCH CENTER   (Russian Federation)

^w NOFER INSTITUTE OF OCCUPATIONAL MEDICINE   (Poland)

^x INSTITUTE OF ONCOLOGY   (Poland)

^y Regional Authority of Public Health   (Slovakia)

^z CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^aa MASARYK MEMORIAL CANCER INSTITUTE   (Czech Republic)

^ab PALACKÝ UNIVERSITY   (Czech Republic)

^ac INTERNATIONAL PREVENTION RESEARCH INSTITUTE   (France)

^ad INSTITUTO OSWALDO CRUZ   (Brazil)

^ae FEDERAL UNIVERSITY OF PELOTAS   (Brazil)

^af UNIVERSITY OF SÃO PAULO   (Brazil)

^ag MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^ah INSTITUTO NACIONAL DE ONCOLOGÍA Y RADIOBIOLOGÍA   (Cuba)

^ai CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^aj Department of Genetics and Pathology International Hereditary Cancer Center   (United States)

^ak POMERANIAN MEDICAL UNIVERSITY   (Poland)

^al CATHOLIC UNIVERSITY   (Italy)

^am CANCER INSTITUTE WIA   (India)

^an TATA MEMORIAL HOSPITAL   (India)

^ao KYUSHU DENTAL COLLEGE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN;

ADULT; AMERICAN; ARTICLE; CANCER RISK; CONTROLLED STUDY; DIGESTIVE SYSTEM CANCER; EUROPEAN; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; INDIAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE BLIND PROCEDURE; SINGLE NUCLEOTIDE POLYMORPHISM; SQUAMOUS CELL CARCINOMA; UPPER AERODIGESTIVE TRACT CANCER; ADVERSE EFFECTS; AGED; CASE CONTROL STUDY; DRINKING BEHAVIOR; EPIDEMIOLOGY; GENETIC PREDISPOSITION; GENETICS; HEAD AND NECK TUMOR; MIDDLE AGED; RISK; RISK ASSESSMENT; RISK FACTOR; SMOKING; STATISTICAL MODEL;

ADULT; AGED; ALCOHOL DRINKING; BRCA2 PROTEIN; CARCINOMA, SQUAMOUS CELL; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEAD AND NECK NEOPLASMS; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS; SMOKING;

EID: 84925942447     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djv037     Document Type: Article

References (29)

1. Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer. 2010;127(12):2893-2917.
2. Stewart B, Kleihues P. World Cancer Report: IARC Press; 2003.
3. McKay JD, Truong T, Gaborieau V, et al. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet. 2011;7(3):e1001333.
4. Negri E, Boffetta P, Berthiller J, et al. Family history of cancer: pooled analysis in the International Head and Neck Cancer Epidemiology Consortium. Int J Cancer. 2009;124(2):394-401.
5. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411(6835):366-374.
6. Scully C, Field JK, Tanzawa H. Genetic aberrations in oral or head and neck squamous cell carcinoma (SCCHN): 1. Carcinogen metabolism, DNA repair and cell cycle control. Oral Oncol. 2000;36(3):256-263.
7. Thacker J. The role of homologous recombination processes in the repair of severe forms of DNA damage in mammalian cells. Biochimie. 1999;81(1-2):77-85.
8. Sung P, Klein H. Mechanism of homologous recombination: mediators and helicases take on regulatory functions. Nat Rev Mol Cell Biol. 2006;7(10):739-750.
9. Wang Y, McKay JD, Rafnar T, et al. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet. 2014;46(7):736-741.
10. Yan W, Wistuba, II, Emmert-Buck MR, et al. Squamous Cell Carcinoma-Similarities and Differences among Anatomical Sites. Am J Cancer Res. 2011;1(3):275-300.
11. Anantharaman D, Chabrier A, Gaborieau V, et al. Genetic variants in nicotine addiction and alcohol metabolism genes, oral cancer risk and the propensity to smoke and drink alcohol: A replication study in India. PLoS One. 2014;9(2):e88240.
12. Oze I, Matsuo K, Hosono S, et al. Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population. Cancer Sci. 2010;101(8):1875-1880.
13. Akbari MR, Malekzadeh R, Nasrollahzadeh D, et al. Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma. Oncogene. 2008;27(9):1290-1296.
14. Akbari MR, Malekzadeh R, Lepage P, et al. Mutations in Fanconi anemia genes and the risk of esophageal cancer. Hum Genet. 2011;129(5):573-582.
15. Anantharaman D, Gheit T, Waterboer T, et al. Human papillomavirus infections and upper aero-digestive tract cancers: The ARCAGE study. J Natl Cancer Inst. 2013;105(8):536-545.
16. Ribeiro KB, Levi JE, Pawlita M, et al. Low human papillomavirus prevalence in head and neck cancer: results from two large case-control studies in highincidence regions. Int J Epidemiol. 2011;40(2):489-502.
17. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005;42(9):711-719.
18. Breast-Cancer-Linkage-Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310-1316.
19. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606-609.
20. Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer. 2003;97(2):425-440.
21. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003;101(3):822-826.
22. Mazoyer S, Dunning AM, Serova O, et al. A polymorphic stop codon in BRCA2. Nat Genet. 1996;14(3):253-254.
23. Wu K, Hinson SR, Ohashi A, et al. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res. 2005;65(2):417-426.
24. Martin ST, Matsubayashi H, Rogers CD, et al. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene. 2005;24(22):3652-3656.
25. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4):353-361, 361e1-361e2.
26. Lok BH, Carley AC, Tchang B, et al. RAD52 inactivation is synthetically lethal with deficiencies in BRCA1 and PALB2 in addition to BRCA2 through RAD51-mediated homologous recombination. Oncogene. 2013;32(30):3552-3558.
27. Cramer-Morales K, Nieborowska-Skorska M, Scheibner K, et al. Personalized synthetic lethality induced by targeting RAD52 in leukemias identified by gene mutation and expression profile. Blood. 2013;122(7):1293-1304.
28. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38(8):904-909.
29. Yu K, Wang Z, Li Q, et al. Population substructure and control selection in genome-wide association studies. PLoS One. 2008;3(7):e2551.