Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Haanpää, Maria ^a,b   Pylkäs, Katri ^a,b   Moilanen, Jukka S ^a,b   Winqvist, Robert ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Genetic counseling; Hereditary breast cancer predisposition; PALB2

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; KI 67 ANTIGEN; PROTEIN P53;

ADULT; ARTICLE; BREAST CANCER; CANCER EPIDEMIOLOGY; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FINLAND; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE; HIGH RISK PATIENT; HISTOLOGY; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER;

ADULT; ALLELES; BRCA2 PROTEIN; BREAST NEOPLASMS; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; RISK FACTORS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 84881308990     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-82     Document Type: Article

References (21)

1. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996, 77:2318-2324. 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z, 8635102.
2. Thompson D, Easton D. The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 2004, 9:221-236.
3. Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR, Venter DJ, Hopper JL. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 2003, 95:448-457. 10.1093/jnci/95.6.448, 12644538.
4. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, 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, 72:1117-1130. 10.1086/375033, 1180265, 12677558.
5. Welcsh PL, Owens KN, King MC. Insights into the functions of BRCA1 and BRCA2. Trends Genet 2000, 16:69-74. 10.1016/S0168-9525(99)01930-7, 10652533.
6. Poumpouridou N, Kroupis C. Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges. Clin Chem Lab Med 2011, 50:423-434.
7. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006, 22:719-729. 10.1016/j.molcel.2006.05.022, 16793542.
8. Zhang F, Fan Q, Ren K, Andreassen PR. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Mol Cancer Res 2009, 7:1110-1118. 10.1158/1541-7786.MCR-09-0123, 19584259.
9. Buisson R, Dion-Cote AM, Coulombe Y, Launay H, Cai H, Stasiak AZ, Stasiak A, Xia B, Masson JY. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat Struct Mol Biol 2010, 17:1247-1254. 10.1038/nsmb.1915, 20871615.
10. Maxwell KN, Domchek SM. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol 2012, 9:520-528. 10.1038/nrclinonc.2012.123, 22825375.
11. O'Shaughnessy J, Osborne C, Pippen JE, Yoffe M, Patt D, Rocha C, Koo IC, Sherman BM, Bradley C. Iniparib plus chemotherapy in metastatic triple-negative breast cancer. N Engl J Med 2011, 364:205-214. 10.1056/NEJMoa1011418, 21208101.
12. Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallee MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L, Bernstein JL, Begg CB. WECARE Study Collaborative Group Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum Mutat 2012, 33:674-680. 10.1002/humu.22022, 22241545, WECARE Study Collaborative Group.
13. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos JP, Greenhalf W, Bartsch DK. PALB2 mutations in European familial pancreatic cancer families. Clin Genet 2010, 78:490-494. 10.1111/j.1399-0004.2010.01425.x, 20412113.
14. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007, 446:316-319. 10.1038/nature05609, 17287723.
15. Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 2008, 14:4667-4671. 10.1158/1078-0432.CCR-08-0210, 18628482.
16. Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C, Nevanlinna H. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009, 15:3214-3222. 10.1158/1078-0432.CCR-08-3128, 19383810.
17. Allain DC. Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn 2008, 10:383-395. 10.2353/jmoldx.2008.070161, 2518733, 18687797.
18. Kumar S, Nei M, Dudley J, Tamura K. MEGA: a biologist-centric software for evolutionary analysis of DNA and protein sequences. Brief Bioinform 2008, 9:299-306. 10.1093/bib/bbn017, 2562624, 18417537.
19. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000, 132:365-386.
20. Eerola H, Heikkilä P, Tamminen A, Aittomäki K, Blomqvist C, Nevanlinna H. Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families. Breast Cancer Res 2005, 7:R93-R100. 10.1186/bcr953, 1064101, 15642173.
21. Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Confab K, Baglietto L, Giles GG, Goldgar D, Foulkes WD, Hopper JL. Cancer Family Registry B A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res 2010, 12:R109. 10.1186/bcr2796, 3046454, 21182766, Cancer Family Registry B.