Breast-cancer risk in families with mutations in PALB2

New England Journal of Medicine

Volumn 371, Issue 6, 2014, Pages 497-506

  Antoniou, A C ^a   Casadei, S ^f   Heikkinen, T ^g   Barrowdale, D ^a   Pylkas K ^i,j   Roberts, J ^d   Lee, A ^a   Subramanian, D ^d   De Leeneer, K ^m   Fostira, F ⁿ   Tomiak, E ^o   Neuhausen, S L ^r   Teo, Z L ^s   Khan, S ^g   Aittomaki K ^h   Moilanen, J S ⁱ   Turnbull, C ^e,aa   Seal, S ^e   Mannermaa, A ^k   Kallioniemi, A ^l   Lindeman, G J ^t,u   Buys, S S ^w   Andrulis, I L ^p   Radice, P ^x   Tondini, C ^e,aa   Manoukian, S ^y   Toland, A E ^ab   Miron, P ^ac   Weitzel, J N ^r   Domchek, S M ^ad   Poppe, B ^m   Claes, K B M ^m   Yannoukakos, D ⁿ   Concannon, P ^ae   Bernstein, J L ^af   James, P A ^v   Easton, D F ^a,b   Goldgar, D E ^w   Hopper, J L ^s   Rahman, N ^e   Peterlongo, P ^z   Nevanlinna, H ^g   King, M C ^f   Couch, F J ^ag   Southey, M C ^s   Winqvist, R ^i,j   Foulkes, W D ^q   Tischkowitz, M ^c,d   more..

^a Department of Public Health and Primary Care ^*  (United Kingdom)

^b Division of Cancer Epidemiology and Genetics   (United Kingdom)

^c Department of Oncology ^*  (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF HELSINKI   (Finland)

^h HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁱ UNIVERSITY OF OULU   (Finland)

^j OULU UNIVERSITY HOSPITAL   (Finland)

^k UNIVERSITY OF EASTERN FINLAND   (Finland)

^l TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^m GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁿ INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^o CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^p MOUNT SINAI HOSPITAL   (Canada)

^q MCGILL UNIVERSITY   (Canada)

^r CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^s UNIVERSITY OF MELBOURNE   (Australia)

^t ROYAL MELBOURNE HOSPITAL   (Australia)

^u WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^v PETER MACCALLUM CANCER CENTRE   (Australia)

^w UNIVERSITY OF UTAH   (United States)

^x Department of Preventive and Predictive Medicine   (Italy)

^y Unit of Medical Genetics   (Italy)

^z NATIONAL CANCER INSTITUTE   (Italy)

^aa Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

^ab OHIO STATE UNIVERSITY   (United States)

^ac CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ad UNIVERSITY OF PENNSYLVANIA   (United States)

^ae UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^af MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^ag MAYO CLINIC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; DISEASE CARRIER; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENOTYPE; GERMLINE MUTATION; HEREDITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PALB2 GENE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEGREGATION ANALYSIS; TRIPLE NEGATIVE BREAST CANCER; VERY ELDERLY; YOUNG ADULT; BREAST TUMOR; GENE DELETION; GENETICS; HETEROZYGOTE; RISK; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; FEMALE; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; NUCLEAR PROTEINS; RECEPTOR, ERBB-2; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; RISK; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS;

EID: 84905842087     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1400382     Document Type: Article

References (38)

1. Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006;22:719-29.
2. Sy SM, Huen MS, Zhu Y, Chen J. PALB2 regulates recombinational repair through chromatin association and oligomerization. J Biol Chem 2009;284:18302-10.
3. Zhang F, Ma J, Wu J, et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Curr Biol 2009;19:524-9.
4. Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res 2010;70:7353-9.
5. Casadei S, Norquist BM, Walsh T, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011;71:2222-9.
6. Erkko H, Xia B, Nikkilä J, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;?446:?316-9. (Pubitemid 46426155)
7. Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;?39:?165-7. (Pubitemid 46184346)
8. Erkko H, Dowty JG, Nikkilä J, et al. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 2008;14:4667-71.
9. Foulkes WD, Ghadirian P, Akbari MR, et al. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 2007;9:R83.
10. Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 2008;?98:?1457-66. (Pubitemid 351543573)
11. Barnes DR, Barrowdale D, Beesley J, et al. Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer. Br J Cancer 2013;108:2610-22.
12. Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 1988;5:471-2.
13. Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001;?21:?1-18. (Pubitemid 32619211)
14. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002;31:33-6.
15. Cannings C, Thompson EA. Ascertainment in the sequential sampling of pedigrees. Clin Genet 1977;?12:?208-12. (Pubitemid 8202555)
16. Ewens WJ, Shute NC. A resolution of the ascertainment sampling problem. I. Theory. Theor Popul Biol 1986;30:388-412.
17. Shute NC, Ewens WJ. A resolution of the ascertainment sampling problem. III. Pedigrees. Am J Hum Genet 1988;43:387-95.
18. Honrado E, Benítez J, Palacios J. Histopathology of BRCA1- and BRCA2-associated breast cancer. Crit Rev Oncol Hematol 2006;?59:?27-39. (Pubitemid 43903277)
19. Foulkes WD, Smith IE, Reis-Filho JS. Triple-negative breast cancer. N Engl J Med 2010;363:1938-48.
20. Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001;358:1389-99.
21. Begg CB, Haile RW, Borg A, et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008;299:194-201.
22. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2002;?94:?1221-6. (Pubitemid 34993872)
23. Levy-Lahad E, Lahad A, Eisenberg S, et al. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci U S A 2001;?98:?3232-6. (Pubitemid 32220828)
24. Byrnes GB, Southey MC, Hopper JL. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res 2008;10:208.
25. Heikkinen T, Kärkkäinen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009;15:3214-22.
26. Foulkes WD, Brunet JS, Wong N, Goffin J, Chappuis PO. Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort study. J Med Genet 2002;?39:?407-9. (Pubitemid 34664974)
27. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;?72:?1117-30. (Pubitemid 36530000)
28. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;?302:?643-6. (Pubitemid 37310920)
29. Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008;?26:?542-8. (Pubitemid 351264346)
30. Olsen JH, Hahnemann JM, Børresen-Dale AL, et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005;?93:?260-5. (Pubitemid 41133213)
31. Thompson D, Duedal S, Kirner J, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005;?97:?813-22. (Pubitemid 40909124)
32. Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;?38:?873-5. (Pubitemid 44141653)
33. Murphy CD, Lee JM, Drohan B, et al. The American Cancer Society guidelines for breast screening with magnetic resonance imaging: an argument for genetic testing. Cancer 2008;113:3116-20.
34. Evans DG, Graham J, O'Connell S, Arnold S, Fitzsimmons D. Familial breast cancer: summary of updated NICE guidance. BMJ 2013;346:f3829.
35. Blanco A, de la Hoya M, Balmaña J, et al. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat 2012;132:307-15.
36. Ding YC, Steele L, Kuan CJ, Greilac S, Neuhausen SL. Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. Breast Cancer Res Treat 2011;126:771-8.
37. Jones S, Hruban RH, Kamiyama M, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
38. Tischkowitz MD, Sabbaghian N, Hamel N, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 2009;137:1183-6.