Corrigendum: Clinical application of multigene panels: Challenges of next-generation counseling and cancer risk management [Front Oncol, 5 (2015) 208, DOI: 10.3389/fonc.2015.00208];Clinical application of multigene panels: Challenges of next-generation counseling and cancer risk management

Frontiers in Oncology

Volumn 5, Issue SEP, 2015, Pages

  Slavin, Thomas Paul ^a   Niell Swiller, Mariana ^a   Solomon, Ilana ^a   Nehoray, Bita ^a   Rybak, Christina ^a   Blazer, Kathleen R ^a   Weitzel, Jeffrey N ^a  

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

Author keywords

Genetic counseling; Hereditary breast cancer; Hereditary cancer panel; Hereditary colon cancer; Multigene panels; Next generation sequencing; Genetics; BRCA1

Indexed keywords

APC PROTEIN; CHECKPOINT KINASE 2; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MSH6; PROTEIN P53; UVOMORULIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER GENETICS; CANCER RISK; CANCER TEST; CLINICAL ARTICLE; COLORECTAL CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; MIDDLE AGED; MULTIGENE PANEL TEST; NBN GENE; PATIENT SELECTION; PHENOTYPE; RAD51C GENE; RISK ASSESSMENT; RISK MANAGEMENT; TUMOR SUPPRESSOR GENE; VERY ELDERLY;

EID: 84944735241     PISSN: None     EISSN: 2234943X     Source Type: Journal    
DOI: 10.3389/fonc.2015.00271     Document Type: Erratum

References (120)

1. Weitzel JN, Blazer KR, MacDonald DJ, Culver JO, Offit K. Genetics, genomics and cancer risk assessment: state of the art and future directions in the era of personalized medicine. CA Cancer J Clin (2011) 61(5):327-59. doi:10.3322/caac.20128
2. Halbert CH, Wenzel L, Lerman C, Peshkin BN, Narod S, Marcus A, et al. Predictors of participation in psychosocial telephone counseling following genetic testing for BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev (2004) 13(5):875-81.
3. Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 118(5):829-34. doi:10.1016/S0016-5085(00)70168-5
4. Warner E, Messersmith H, Causer P, Eisen A, Shumak R, Plewes D. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Intern Med (2008) 148(9):671-9. doi:10.7326/0003-4819-148-9-200805060-00007
5. Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA (2006) 296(2):185-92. doi:10.1001/jama.296.2.185
6. Hartmann LC, Degnim A, Schaid DJ. Prophylactic mastectomy for BRCA1/2 carriers: progress and more questions. J Clin Oncol (2004) 22(6):981-3. doi:10.1200/JCO.2004.01.925
7. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol (2004) 22(6):1055-62. doi:10.1200/JCO.2004.04.188
8. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 304(9):967-75. doi:10.1001/jama.2010.1237
9. Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol (2006) 24(28):4642-60. doi:10.1200/JCO.2005.04.5260
10. Burke W, Psaty BM. Personalized medicine in the era of genomics. JAMA (2007) 298(14):1682-4. doi:10.1001/jama.298.14.1682
11. Lippman SM, Hawk ET. Cancer prevention: from 1727 to milestones of the past 100 years. Cancer Res (2009) 69(13):5269-84. doi:10.1158/0008-5472.CAN-09-1750
12. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet (2000) 356:1876-81. doi:10.1016/S0140-6736(00)03258-X
13. Visvanathan K, Chlebowski RT, Hurley P, Col NF, Ropka M, Collyar D, et al. American society of clinical oncology clinical practice guideline update on the use of pharmacologic interventions including tamoxifen, raloxifene, and aromatase inhibition for breast cancer risk reduction. J Clin Oncol (2009) 27(19):3235-58. doi:10.1200/JCO.2008.20.5179
14. Weitzel JN, Buys SS, Sherman WH, Daniels AM, Ursin G, Daniels JR, et al. Reduced mammographic density with use of a gonadotropin-releasing hormone agonist-based chemoprevention regimen in BRCA1 carriers. Clin Cancer Res (2007) 13(2 Pt 1):654-8. doi:10.1158/1078-0432.CCR-06-1902
15. Huang F, Kushner YB, Langleben A, Foulkes WD. Eleven years disease-free: role of chemotherapy in metastatic BRCA2-related breast cancer. Nat Rev Clin Oncol (2009) 6(8):488-92. doi:10.1038/nrclinonc.2009.90
16. Tutt A, Robson M, Garber JE, Domchek S, Audeh MW, Weitzel JN, et al. Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet (2010) 376(9737):235-44. doi:10.1016/S0140-6736(10)60892-6
17. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA (2007) 297(23):2587-95. doi:10.1001/jama.297.23.2587
18. NCCN. NCCN clinical practice guidelines in oncology V.1.2014: colorectal cancer screening. NCCN Clinical Practice Guidelines [Internet] (2014). Available from: http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf
19. Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns (2014) 23(4):633-9. doi:10.1007/s10897-014-9714-7
20. Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 hereditary breast and ovarian cancer. [Updated 2013 Sep 26]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2015). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1247/
21. Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 297(21):2360-72. doi:10.1001/jama.297.21.2360
22. Eng C. PTEN hamartoma tumor syndrome (PHTS). [Updated 2014 Jan 23]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2015). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1488/
23. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med (1998) 128(11):896-9. doi:10.7326/0003-4819-128-11-199806010-00004
24. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology (2000) 119(6):1447-53. doi:10.1053/gast.2000.20228
25. Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet (2010) 47(6):421-8. doi:10.1136/jmg.2009.073429
26. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst (2005) 97(11):813-22. doi:10.1093/jnci/dji141
27. Cavaciuti E, Lauge A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D, et al. Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chromosomes Cancer (2005) 42(1):1-9. doi:10.1002/gcc.20101
28. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 38(11):1239-41. doi:10.1038/ng1902
29. Cybulski C, Wokolorczyk D, Jakubowska A, Huzarski T, Byrski T, Gronwald J, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol (2011) 29(28):3747-52. doi:10.1200/JCO.2010.34.0778
30. Cybulski C, Wokolorczyk D, Huzarski T, Byrski T, Gronwald J, Gorski B, et al. A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat (2007) 102(1):119-22. doi:10.1007/s10549-006-9320-y
31. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2007) 39(2):165-7. doi:10.1038/ng1959
32. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkas K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 371(6):497-506. doi:10.1056/NEJMoa1400382
33. Carbone M, Yang H, Pass HI, Krausz T, Testa JR, Gaudino G. BAP1 and cancer. Nat Rev Cancer (2013) 13(3):153-9. doi:10.1038/nrc3459
34. Karppinen SM, Barkardottir RB, Backenhorn K, Sydenham T, Syrjakoski K, Schleutker J, et al. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet (2006) 43(11):856-62. doi:10.1136/jmg.2006.041731
35. Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, Kostic JP, et al. The BARD1 Cys557Ser variant and breast cancer risk in Iceland. PLoS Med (2006) 3(7):e217. doi:10.1371/journal.pmed.0030217
36. Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, et al. 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. Breast Cancer Res (2014) 16(3):R58. doi:10.1186/bcr3669
37. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundan T, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis (2006) 27(8):1593-9. doi:10.1093/carcin/bgi360
38. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 42(5):410-4. doi:10.1038/ng.569
39. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet (2011) 43(9):879-82. doi:10.1038/ng.893
40. Gutierrez-Enriquez S, Bonache S, de Garibay GR, Osorio A, Santamarina M, Ramon y Cajal T, et al. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Int J Cancer (2014) 134(9):2088-97. doi:10.1002/ijc.28540
41. Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O. MutYH mutation carriers have increased breast cancer risk. Cancer (2012) 118(8):1989-93. doi:10.1002/cncr.26506
42. Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in central Poland. Int J Cancer (2006) 119(2):472-5. doi:10.1002/ijc.21853
43. Berardinelli F, di Masi A, Antoccia A. NBN gene polymorphisms and cancer susceptibility: a systemic review. Curr Genomics (2013) 14(7):425-40. doi:10.2174/13892029113146660012
44. Romanowicz-Makowska H, Smolarz B, Zadrozny M, Westfa B, Baszczynski J, Kokolaszwili G, et al. The association between polymorphisms of the RAD51-G135C, XRCC2-Arg188His and XRCC3-Thr241Met genes and clinico-pathologic features in breast cancer in Poland. Eur J Gynaecol Oncol (2012) 33(2):145-50.
45. Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet (2012) 90(4):734-9. doi:10.1016/j.ajhg.2012.02.027
46. Jasperson KW, Burt RW. APC-associated polyposis conditions. [Updated 2014 Mar 27]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2013). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1345/#!po=0.909091
47. Larsen Haidle J, Howe JR. Juvenile polyposis syndrome. [Updated 2014 May 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2015). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1469/#!po=1.78571
48. Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2011) 12(1):49-55. doi:10.1016/S1470-2045(10)70265-5
49. Kohlmann W, Gruber SB. Lynch Syndrome. Seattle, WA: University of Washington (1993-2014). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1211/?report=printable
50. Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2010) 102(3):193-201. doi:10.1093/jnci/djp473
51. Brand R, Nielsen M, Lynch H, Infante E. MUTYH-associated polyposis. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2015). Available from: http://www.ncbi.nlm.nih.gov/books/NBK107219/#!po=1.66667
52. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 135(2):419-28.e1. doi:10.1053/j.gastro.2008.04.026
53. McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers syndrome. [Updated 2013 Jul 25]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington (1993-2015). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1266/#!po=1.42857
54. Suchy J, Cybulski C, Wokolorczyk D, Oszurek O, Gorski B, Debniak T, et al. CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer (2010) 126(12):3005-9. doi:10.1002/ijc.25003
55. Xiang HP, Geng XP, Ge WW, Li H. Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. Eur J Cancer (2011) 47(17):2546-51. doi:10.1016/j.ejca.2011.03.025
56. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res (2012) 18(2):400-7. doi:10.1158/1078-0432.CCR-11-2283
57. Kaurah P, Huntsman D. Hereditary Diffuse Gastric Cancer. Seattle, WA: University of Washington (2011). Available from: http://www.ncbi.nlm.nih.gov/books/NBK1139/
58. Richards FM, McKee SA, Rajpar MH, Cole TRP, Evans DGR, Jankowski JA, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet (1999) 8:607-10. doi:10.1093/hmg/8.4.607
59. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med (1987) 316(24):1511-4. doi:10.1056/NEJM198706113162404
60. Clarke E, Green RC, Green JS, Mahoney K, Parfrey PS, Younghusband HB, et al. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. Hum Mutat (2012) 33(7):1056-8. doi:10.1002/humu.22088
61. Siegel R, Naishadham D, Jemal A. Cancer statistics for Hispanics/Latinos, 2012. CA Cancer J Clin (2012) 62(5):283-98. doi:10.3322/caac.20138
62. Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J. MUTYH hotspot mutations in unselected colonoscopy patients. Colorectal Dis (2011) 14(5):e238-44. doi:10.1111/j.1463-1318.2012.02920.x
63. Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst (2004) 96(21):1631-4. doi:10.1093/jnci/djh288
64. Palles C, Cazier J-B, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet (2013) 45(2):136-44. doi:10.1038/ng.2503
65. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 108(44):18032-7. doi:10.1073/pnas.1115052108
66. Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA (2011) 305(22):2304-10. doi:10.1001/jama.2011.743
67. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, et al. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet (2011) 20(16):3278-88. doi:10.1093/hmg/ddr229
68. Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg Å, Kusmierek H, et al. Cancer predisposing BARD1 mutations in breast-ovarian cancer families. Breast Cancer Res Treat (2012) 131(1):89-97. doi:10.1007/s10549-011-1403-8
69. Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 137(6):1976-85.e10. doi:10.1053/j.gastro.2009.08.052
70. Stadler ZK, Thom P, Robson ME, Weitzel JN, Kauff ND, Hurley KE, et al. Genome-wide association studies of cancer. J Clin Oncol (2010) 28(27):4255-67. doi:10.1200/JCO.2009.25.7816
71. Laduca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med (2014) 16(11):830-7. doi:10.1038/gim.2014.40
72. Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol (2014) 32(19):2001-9. doi:10.1200/JCO.2013.53.6607
73. Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol (2013) 31(10):1267-70. doi:10.1200/JCO.2012.46.9403
74. Easton DF, Pharoah PDP, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 372(23):2243-57. doi:10.1056/NEJMsr1501341
75. NCCN. NCCN clinical practice guidelines in oncology V.1.2015: genetic/familial high-risk assessment: breast and ovarian. NCCN Clinical Practice Guidelines [Internet] (2015). Available from: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
76. NCCN. NCCN clinical practice guidelines in oncology V.1.2014: genetic/familial high-risk assessment: colorectal. NCCN Clinical Practice Guidelines [Internet] (2014). Available from: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
77. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K, American Society of Clinical Oncology (ASCO). American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol (2010) 28(5):893-901. doi:10.1200/JCO.2009.27.0660
78. Robson M. Multigene panel testing: planning the next generation of research studies in clinical cancer genetics. J Clin Oncol (2014) 32(19):1987-9. doi:10.1200/JCO.2014.56.0474
79. Blazer KR, Christie C, Uman GC, Weitzel JN. Impact of web-based case conferencing on cancer genetics training outcomes for community-based clinicians. J Cancer Educ (2012) 27(2):217-25. doi:10.1007/s13187-012-0313-8
80. Blazer KR, MacDonald DJ, Culver JO, Huizenga CR, Morgan RJ, Uman GC, et al. Personalized cancer genetics training for personalized medicine: improving community-based healthcare through a genetically literate workforce. Genet Med (2011) 13(9):832-40. doi:10.1097/GIM.0b013e31821882b7
81. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet (2010) 47(7):436-44. doi:10.1136/jmg.2009.074237
82. Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, et al. Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer (2011) 117(14):3112-7. doi:10.1002/cncr.25876
83. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science (1990) 250:1233-7. doi:10.1126/science.1978757
84. Toguchida J, Yamaguchi T, Dayton SH, Beauchamp RL, Herrera GE, Ishizaki K, et al. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma [see comments]. N Engl J Med (1992) 326:1301-8. doi:10.1056/NEJM199205143262001
85. Li FP, Fraumeni JF Jr. Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst (1969) 43(6):1365-73.
86. McBride KA, Ballinger ML, Killick E, Kirk J, Tattersall MHN, Eeles RA, et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol (2014) 11(5):260-71. doi:10.1038/nrclinonc.2014.41
87. Bougeard G, Renaux-Petel M, Flaman J-M, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol (2015) 33(21):2345-52. doi:10.1200/JCO.2014.59.5728
88. Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol (2011) 12(6):559-67. doi:10.1016/S1470-2045(11)70119-X
89. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol (2009) 27(8):1250-6. doi:10.1200/JCO.2008.16.6959
90. Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, et al. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin (2007) 57(2):75-89. doi:10.3322/canjclin.57.2.75
91. Masciari S, Van den Abbeele AD, Diller LR, Rastarhuyeva I, Yap J, Schneider K, et al. F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA (2008) 299(11):1315-9. doi:10.1001/jama.299.11.1315
92. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Dis Colon Rectum (2014) 57(8):1025-48. doi:10.1097/DCR.000000000000000
93. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA (2006) 296(12):1507-17. doi:10.1001/jama.296.12.1507
94. Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, et al. Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin (2006) 56(4):213-25. doi:10.3322/canjclin.56.4.213
95. Lynch HT, Lynch J. Lynch syndrome: genetics, natural history, genetic counseling, and prevention. J Clin Oncol (2000) 18(21 Suppl):19S-31S.
96. Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol (2012) 30(9):958-64. doi:10.1200/JCO.2011.39.5590
97. Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, et al. PMS2 monoallelic mutation carriers: the known unknown. Genet Med (2015). doi:10.1038/gim.2015.27
98. Win AK, Lindor NM, Young JP, Macrae FA, Williamson E, Parry S, et al. Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome. J Natl Cancer Inst (2012) 104(18):1363-72. doi:10.1093/jnci/djs351
99. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med (2004) 23(7):1111-30. doi:10.1002/sim.1668
100. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet (2007) 39(2):162-4. doi:10.1038/ng1947
101. Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 71(6):2222-9. doi:10.1158/0008-5472.CAN-10-3958
102. Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet (2010) 11:20. doi:10.1186/1471-2350-11-20
103. Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 446(7133):316-9. doi:10.1038/nature05609
104. Prokofyeva D, Bogdanova N, Bermisheva M, Zinnatullina G, Hillemanns P, Khusnutdinova E, et al. Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region. Clin Genet (2012) 82(1):100-1. doi:10.1111/j.1399-0004.2011.01824.x
105. Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science (2009) 324(5924):217. doi:10.1126/science.1171202
106. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet (2010) 78(5):490-4. doi:10.1111/j.1399-0004.2010.01425.x
107. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet (2005) 42(9):711-9. doi:10.1136/jmg.2004.028829
108. Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, et al. International cancer of the pancreas screening (CAPS) consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut (2013) 62(3):339-47. doi:10.1136/gutjnl-2012-303108
109. 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(4):542-8. doi:10.1200/JCO.2007.12.5922
110. Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM. American college of gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol (2009) 104(3):739-50. doi:10.1038/ajg.2009.104
111. di Masi A, Antoccia A. NBS1 heterozygosity and cancer risk. Curr Genomics (2008) 9(4):275-81. doi:10.2174/138920208784533610
112. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med (2015) 17(5):405-24. doi:10.1038/gim.2015.30
113. Clague J, Wilhoite G, Adamson A, Bailis A, Weitzel JN, Neuhausen SL. RAD51C germline mutations in breast and ovarian cancer cases from high-risk families. PLoS One (2011) 6(9):e25632. doi:10.1371/journal.pone.0025632
114. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, et al. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst (2002) 94(3):205-15. doi:10.1093/jnci/94.12.952
115. Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, et al. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res (2011) 13(4):R73. doi:10.1186/bcr2919
116. Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet (2011) 43(11):1104-7. doi:10.1038/ng.955
117. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, et al. 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. Hum Mutat (2012) 33(1):2-7. doi:10.1002/humu.21628
118. PROMPT to detail breast cancer risk. Cancer Discov (2014) 4(12):1362. doi:10.1158/2159-8290.CD-NB2014-163
119. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles DM, Nevanlinna H, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2012) 21(1):134-47. doi:10.1158/1055-9965.EPI-11-0775
120. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res (2014) 42(Database issue):D980-5. doi:10.1093/nar/gkt1113