Can unknown predisposition in familial breast cancer be family-specific?

Breast Journal

Volumn 19, Issue 5, 2013, Pages 520-528

  Lynch, Henry ^a   Wen, Hongxiu ^b   Kim, Yeong C ^b   Snyder, Carrie ^a   Kinarsky, Yulia ^a   Chen, Pei Xian ^c   Xiao, Fengxia ^b   Goldgar, David ^d   Cowan, Kenneth H ^c   Wang, San Ming ^b  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

exome sequencing; familial breast cancer; predisposition

Indexed keywords

ACETAL TRANSFERASE KAT6B; TRANSFERASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FAMILIAL BREAST CANCER; FAMILIAL CANCER; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GERM LINE; HETEROZYGOTE; HUMAN; MALE;

EXOME SEQUENCING; FAMILIAL BREAST CANCER; PREDISPOSITION;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HISTONE ACETYLTRANSFERASES; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 84884906705     PISSN: 1075122X     EISSN: 15244741     Source Type: Journal    
DOI: 10.1111/tbj.12145     Document Type: Article

References (32)

1. U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 2005; 143: 355-61.
2. Lichtenstein P, Holm NV, Verkasalo PK, et al,. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78-85.
3. Peto J, Mack TM,. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 2000; 26: 411-4.
4. Hall JM, Lee MK, Newman B, et al,. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250: 1684-9.
5. Wooster R, Neuhausen SL, Mangion J, et al,. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994; 265: 2088-90.
6. Birch JM, Alston RD, McNally RJ, et al,. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001; 20: 4621-8.
7. Nelen MR, van Staveren WC, Peeters EA, et al,. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6: 1383-7.
8. Renwick A, Thompson D, Seal S, et al,. ATM mutations that cause ataxiatelangiectasia are breast cancer susceptibility alleles. Nat Genet 2006; 38: 873-5.
9. 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.
10. Broeks A, Schmidt MK, Sherman ME, et al,. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011; 20: 3289-303.
11. Stevens KN, Vachon CM, Lee AM, et al,. Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res 2011; 71: 6240-9.
12. Figueroa JD, Garcia-Closas M, Humphreys M, et al,. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011; 20: 4693-706.
13. Haiman CA, Chen GK, Vachon CM, et al,. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 2011; 43: 1210-4.
14. Antoniou AC, Kuchenbaecker KB, Soucy P, et al,. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res 2012; 14: R33.
15. Stratton MR, Rahman N,. The emerging landscape of breast cancer susceptibility. Nat Genet 2008; 40: 17-22.
16. Turnbull C, Rahman N,. Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 2008; 9: 321-45.
17. Varghese JS, Easton DF,. Genome-wide association studies in common cancers-what have we learnt? Curr Opin Genet Dev 2010; 20: 201-9.
18. Polyak K,. Heterogeneity in breast cancer. J Clin Invest 2011; 121: 3786-8.
19. Stephens PJ, Tarpey PS, Davies H, et al,. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012; 486: 400-4.
20. Nik-Zainal S, Loo PV, Wedge DC, et al,. The life history of 21 breast cancers. Cell 2012; 149: 994-1007.
21. Nik-Zainal S, Alexandrov LB, Wedge DC, et al,. Mutational processes molding the genomes of 21 breast cancers. Cell 2012; 149: 979-93.
22. Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-81.
23. Champagne N, Bertos NR, Pelletier N, et al,. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein. J Biol Chem 1999; 274: 28528-36.
24. Park DJ, Lesueur F, Nguyen-Dumont T, et al,. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012; 90: 734-9.
25. Machin D, Campbell M, Fayers P, Pinol A,. Sample Size Tables for Clinical Studies, 2nd edn. Malden, MA: Blackwell Science, 1997.
26. Pelletier N, Champagne N, Stifani S, Yang XJ,. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. Oncogene 2002; 21: 2729-40.
27. Ullah M, Pelletier N, Xiao L, et al,. Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes. Mol Cell Biol 2008; 28: 6828-43.
28. Panagopoulos I, Fioretos T, Isaksson M, et al,. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). Hum Mol Genet 2001; 10: 395-404.
29. Kraft M, Cirstea IC, Voss AK, et al,. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest 2011; 121: 3479-91.
30. Campeau PM, Kim JC, Lu JT, et al,. Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. Am J Hum Genet 2012; 90: 282-9.
31. Clayton-Smith J, O'Sullivan J, Daly S, et al,. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet 2011; 89: 675-81.
32. Ellis MJ, Ding L, Shen D, et al,. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 2012; 488: 353-60.