-
1
-
-
37849041997
-
Genetic variants of uncertain significance: Flies in the ointment
-
Domchek S, Weber BL. Genetic variants of uncertain significance: flies in the ointment. J Clin Oncol 2008;26:16-17.
-
(2008)
J Clin Oncol
, vol.26
, pp. 16-17
-
-
Domchek, S.1
Weber, B.L.2
-
2
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat. 2008;29:1265-72.
-
(2008)
Hum Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
Easton, D.F.2
Byrnes, G.B.3
Spurdle, A.B.4
Iversen, E.S.5
Greenblatt, M.S.6
-
3
-
-
67549099652
-
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
-
Gómez García EB, Oosterwijk JC, Timmermans M, et al. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res. 2009;11:R8.
-
(2009)
Breast Cancer Res
, vol.11
-
-
Gómez García, E.B.1
Oosterwijk, J.C.2
Timmermans, M.3
-
4
-
-
70449447725
-
Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes
-
O'Neill SC, Rini C, Goldsmith RE, Valdimarsdottir H, Cohen LH, Schwartz MD. Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology 2009;18:1088-1096.
-
(2009)
Psychooncology
, vol.18
, pp. 1088-1096
-
-
O'Neill, S.C.1
Rini, C.2
Goldsmith, R.E.3
Valdimarsdottir, H.4
Cohen, L.H.5
Schwartz, M.D.6
-
5
-
-
55549146837
-
Assessment of functional effects of unclassified genetic variants
-
Couch FJ, Rasmussen LJ, Hofstra R, et al. Assessment of functional effects of unclassified genetic variants. Hum Mutat. 2008;29:1314-1326.
-
(2008)
Hum Mutat
, vol.29
, pp. 1314-1326
-
-
Couch, F.J.1
Rasmussen, L.J.2
Hofstra, R.3
-
6
-
-
70350221026
-
Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic
-
Vos J, van Asperen CJ, Wijnen JT, Stiggelbout AM, Tibben AD. Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic. Genet Med. 2009;11:742-9.
-
(2009)
Genet Med
, vol.11
, pp. 742-749
-
-
Vos, J.1
Van Asperen, C.J.2
Wijnen, J.T.3
Stiggelbout, A.M.4
Tibben, A.D.5
-
7
-
-
18344367085
-
What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer
-
van Dijk S, Otten W, Timmermans DR, et al. What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer. Genet Med. 2005;7:239-45.
-
(2005)
Genet Med
, vol.7
, pp. 239-245
-
-
Van Dijk, S.1
Otten, W.2
Timmermans, D.R.3
-
8
-
-
0036591555
-
Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: A survey of genetic counseling practice
-
Petrucelli N, Lazebnik N, Huelsman KM, Lazebnik RS. Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice. Genet Test. 2002;6:107-13.
-
(2002)
Genet Test
, vol.6
, pp. 107-113
-
-
Petrucelli, N.1
Lazebnik, N.2
Huelsman, K.M.3
Lazebnik, R.S.4
-
9
-
-
34248379012
-
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database
-
Petitjean A, Mathe E, Kato S, et al. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat. 2007;28:622-9.
-
(2007)
Hum Mutat
, vol.28
, pp. 622-629
-
-
Petitjean, A.1
Mathe, E.2
Kato, S.3
-
10
-
-
79961005001
-
-
http://www.nccn.org/professionals/physician-gls/PDF/genetics-screening. pdf.
-
-
-
-
12
-
-
0028330276
-
Risks of cancer in BRCA1-mutation carriers
-
Breast Cancer Linkage Consortium
-
Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994;343:692-5.
-
(1994)
Lancet
, vol.343
, pp. 692-695
-
-
Ford, D.1
Easton, D.F.2
Bishop, D.T.3
-
13
-
-
17344365851
-
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
-
The Breast Cancer Linkage Consortium
-
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62:676-89.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
-
14
-
-
35348834779
-
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
DOI 10.1086/521032
-
Easton DF, Deffenbaugh AM, Pruss D, et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer predisposition genes. Am J Hum Genet. 2007;81:873-83. (Pubitemid 47580242)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.5
, pp. 873-883
-
-
Easton, D.F.1
Deffenbaugh, A.M.2
Pruss, D.3
Frye, C.4
Wenstrup, R.J.5
Allen-Brady, K.6
Tavtigian, S.V.7
Monteiro, A.N.A.8
Iversen, E.S.9
Couch, F.J.10
Goldgar, D.E.11
-
15
-
-
0038744296
-
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
-
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.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1117-1130
-
-
Antoniou, A.1
Pharoah, P.D.2
Narod, S.3
-
16
-
-
0142178215
-
Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
-
DOI 10.1126/science.1088759
-
King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutation in BRCA1 and BRCA2. Science. 2003;302:643-6. (Pubitemid 37310920)
-
(2003)
Science
, vol.302
, Issue.5645
, pp. 643-646
-
-
King, M.-C.1
Marks, J.H.2
Mandell, J.B.3
-
17
-
-
1442307845
-
Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: A review of the literature
-
Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004;22:735-42.
-
(2004)
J Clin Oncol
, vol.22
, pp. 735-742
-
-
Liede, A.1
Karlan, B.Y.2
Narod, S.A.3
-
18
-
-
0033523268
-
Cancer Risks in BRCA2 mutation carriers
-
The Breast Cancer Linkage Consortium
-
The Breast Cancer Linkage Consortium. Cancer Risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91:1310-6.
-
(1999)
J Natl Cancer Inst
, vol.91
, pp. 1310-1316
-
-
-
19
-
-
0037130889
-
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
-
Brose MS, Timothy R. Rebbeck TR, et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst. 2002;94: 1365-72.
-
(2002)
J Natl Cancer Inst
, vol.94
, pp. 1365-1372
-
-
Brose, M.S.1
Timothy, R.2
Rebbeck, T.R.3
-
20
-
-
24944434401
-
Cancer risks in BRCA2 families: Estimates for sites other than breast and ovary
-
van Asperen CJ, Brohet RM, Meijers-Heijboer EJ. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005;42:711-9.
-
(2005)
J Med Genet
, vol.42
, pp. 711-719
-
-
Van Asperen, C.J.1
Brohet, R.M.2
Meijers-Heijboer, E.J.3
-
21
-
-
1542438635
-
TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms
-
Nichols KE, Heath JA, Friedman D, et al. TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. J Clin Oncol. 2003;21:4505-9.
-
(2003)
J Clin Oncol
, vol.21
, pp. 4505-4509
-
-
Nichols, K.E.1
Heath, J.A.2
Friedman, D.3
-
22
-
-
0037778770
-
Breast Cancer Following Radiotherapy and Chemotherapy among Young Women with Hodgkin Disease
-
DOI 10.1001/jama.290.4.465
-
Travis LB, Hill DA, Dores GM, et al. Breast cancer following radiotherapy and chemotherapy among young women with Hodgkin disease. JAMA. 2003;290:465-75. (Pubitemid 37430500)
-
(2003)
Journal of the American Medical Association
, vol.290
, Issue.4
, pp. 465-475
-
-
Travis, L.B.1
Hill, D.A.2
Dores, G.M.3
Gospodarowicz, M.4
Van Leeuwen, F.E.5
Holowaty, E.6
Glimelius, B.7
Andersson, M.8
Wiklund, T.9
Lynch, C.F.10
Van'T, V.M.B.11
Glimelius, I.12
Storm, H.13
Pukkala, E.14
Stovall, M.15
Curtis, R.16
Boice Jr., J.D.17
Gilbert, E.18
-
23
-
-
34250631251
-
Limited family structure and BRCA gene mutation status in single cases of breast cancer
-
Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297:2587-95.
-
(2007)
JAMA
, vol.297
, pp. 2587-2595
-
-
Weitzel, J.N.1
Lagos, V.I.2
Cullinane, C.A.3
-
24
-
-
1242272911
-
Evaluation of BRCA2 in the genetic susceptibility of familial esophageal cancer
-
Hu N, Wang C, Han XY, et al. Evaluation of BRCA2 in the genetic susceptibility of familial esophageal cancer. Oncogene. 2004;23:852-8.
-
(2004)
Oncogene
, vol.23
, pp. 852-858
-
-
Hu, N.1
Wang, C.2
Han, X.Y.3
-
25
-
-
62449249871
-
Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations
-
Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li-Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27:1250-6.
-
(2009)
J Clin Oncol
, vol.27
, pp. 1250-1256
-
-
Gonzalez, K.D.1
Noltner, K.A.2
Buzin, C.H.3
-
26
-
-
0034071085
-
P53 germline mutations in childhood cancers and cancer risk for carrier individuals
-
Chompret A, Brugieres L, Ronsin M, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000;82:1932-7. (Pubitemid 30326453)
-
(2000)
British Journal of Cancer
, vol.82
, Issue.12
, pp. 1932-1937
-
-
Chompret, A.1
Brugieres, L.2
Ronsin, M.3
Gardes, M.4
Dessarps-Freichey, F.5
Abel, A.6
Hua, D.7
Ligot, L.8
Dondon, M.-G.9
Bressac-De, P.B.10
Frebourg, T.11
Lemerle, J.12
Bonaiti-Pellie, C.13
Feunteun, J.14
-
28
-
-
77952982796
-
Genetic/familial high-risk assessment: Breast and ovarian
-
Daly MB, Axilbund JE, Buys S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Cancer Netw. 2010;8:562-94.
-
(2010)
J Natl Compr Cancer Netw
, vol.8
, pp. 562-594
-
-
Daly, M.B.1
Axilbund, J.E.2
Buys, S.3
-
29
-
-
77955557826
-
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
-
del Valle J, Feliubadalo L, Nadal M, et al. Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat. 2010;122:733-43.
-
(2010)
Breast Cancer Res Treat
, vol.122
, pp. 733-743
-
-
Del Valle, J.1
Feliubadalo, L.2
Nadal, M.3
-
30
-
-
58849157647
-
Cowden syndrome: A critical review of the clinical literature
-
Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009;18:13-27.
-
(2009)
J Genet Couns
, vol.18
, pp. 13-27
-
-
Pilarski, R.1
-
31
-
-
62449249871
-
Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations
-
Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li-Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27:1250-6.
-
(2009)
J Clin Oncol
, vol.27
, pp. 1250-1256
-
-
Gonzalez, K.D.1
Noltner, K.A.2
Buzin, C.H.3
-
32
-
-
68149161777
-
Phase II trial of the oral PARP inhibitor olaparib in BRCA-deficient advanced breast cancer
-
Grunberg SM, ed. Orlando, FL: ASCO Publications
-
Tutt A, Robson M, Garber JE, et al. Phase II trial of the oral PARP inhibitor olaparib in BRCA-deficient advanced breast cancer. In: Grunberg SM, ed. 45th Annual Meeting of the American Society of Clinical Oncology. Vol 27. Orlando, FL: ASCO Publications; 2009:7s.
-
(2009)
45th Annual Meeting of the American Society of Clinical Oncology
, vol.27
-
-
Tutt, A.1
Robson, M.2
Garber, J.E.3
-
33
-
-
34047137002
-
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography
-
Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57:75-89. (Pubitemid 46535708)
-
(2007)
CA Cancer Journal for Clinicians
, vol.57
, Issue.2
, pp. 75-89
-
-
Saslow, D.1
Boetes, C.2
Burke, W.3
Harms, S.4
Leach, M.O.5
Lehman, C.D.6
Morris, E.7
Pisano, E.8
Schnall, M.9
Sener, S.10
Smith, R.A.11
Warner, E.12
Yaffe, M.13
Andrews, K.S.14
Russell, C.A.15
-
34
-
-
0027979310
-
Autosomal dominant inheritance of early-onset breast cancer: Implications for risk prediction
-
Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer: implications for risk prediction. Cancer. 1994;73:643-51. (Pubitemid 24046606)
-
(1994)
Cancer
, vol.73
, Issue.3
, pp. 643-651
-
-
Claus, E.B.1
Risch, N.2
Thompson, W.D.3
-
35
-
-
0024801278
-
Projecting individualized probabilities of developing breast cancer for white females who are being examined annually
-
Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81:1879-86. (Pubitemid 20026073)
-
(1989)
Journal of the National Cancer Institute
, vol.81
, Issue.24
, pp. 1879-1886
-
-
Gail, M.H.1
Brinton, L.A.2
Byar, D.P.3
Corle, D.K.4
Green, S.B.5
Schairer, C.6
Mulvihill, J.J.7
-
36
-
-
79960986763
-
Evaluation and management of women with BRCA1/2 mutations
-
Stopfer J, Domchek S. Evaluation and management of women with BRCA1/2 mutations. http://www.cancernetwork.com/gynecologiccancer/content/article/10165/ 105318. Oncology. 2005;19.
-
(2005)
Oncology
, vol.19
-
-
Stopfer, J.1
Domchek, S.2
-
37
-
-
78649996861
-
-
Retrieved November 20, 2010 from
-
National Cancer Institute. BRCA1 and BRCA2: cancer risk and genetic testing. Retrieved November 20, 2010 from http://www.cancer.gov/cancertopics/ factsheet/Risk/BRCA.
-
BRCA1 and BRCA2: Cancer Risk and Genetic Testing
-
-
-
38
-
-
10044254427
-
The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers
-
DOI 10.1016/j.ygyno.2004.09.039, PII S0090825804007772
-
Metcalfe KA, Lynch HT, Ghadirian P, et al: The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol 2005;96:222-6. (Pubitemid 39612440)
-
(2005)
Gynecologic Oncology
, vol.96
, Issue.1
, pp. 222-226
-
-
Metcalfe, K.A.1
Lynch, H.T.2
Ghadirian, P.3
Tung, N.4
Olivotto, I.A.5
Foulkes, W.D.6
Warner, E.7
Olopade, O.8
Eisen, A.9
Weber, B.10
McLennan, J.11
Sun, P.12
Narod, S.A.13
-
40
-
-
18844404362
-
Unclassified variants in disease-causing genes: Nonuniformity of genetic testing and counselling, a proposal for guidelines [2]
-
DOI 10.1038/sj.ejhg.5201379
-
Vink GR, van Asperen CJ, Devilee P, Breuning MH, Bakker E. Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counseling, a proposal for guidelines. Eur J Hum Genet. 2005:13:525-7. (Pubitemid 40691391)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.5
, pp. 525-527
-
-
Vink, G.R.1
Van Asperen, C.J.2
Devilee, P.3
Breuning, M.H.4
Bakker, E.5
-
41
-
-
79961008177
-
-
Version 1. Accessed May 23, 2011
-
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Breast cancer screening and diagnosis. Version 1.2011. www.nccn.org/professionals/physician-gls/pdf/breast-screening.pdf. Accessed May 23, 2011.
-
(2011)
Breast Cancer Screening and Diagnosis
-
-
-
42
-
-
9744252310
-
Variants of uncertain clinical significance as a result of BRCA1/2 testing: Impact of an ambiguous breast cancer risk message
-
Van Dijk S, van Asperen CJ, Jacobi CE, et al. Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message. Genet Test. 2004;8:235-9.
-
(2004)
Genet Test
, vol.8
, pp. 235-239
-
-
Van Dijk, S.1
Van Asperen, C.J.2
Jacobi, C.E.3
-
43
-
-
0035339930
-
BRCA1/2 testing: Complex themes in result interpretation
-
Peshkin BN, DeMarco TA, Brogan BM, et al. BRCA1/2 testing: complex themes in result interpretation. J Clin Oncol. 2001;19:2555-65.
-
(2001)
J Clin Oncol
, vol.19
, pp. 2555-2565
-
-
Peshkin, B.N.1
DeMarco, T.A.2
Brogan, B.M.3
-
44
-
-
30144431781
-
'A variant of uncertain significance' and the proliferation of human disease gene databases
-
Nelson DR. 'A variant of uncertain significance' and the proliferation of human disease gene databases. Hum Genom. 2005;2:70-4.
-
(2005)
Hum Genom
, vol.2
, pp. 70-74
-
-
Nelson, D.R.1
-
45
-
-
57149137640
-
-
Version 2. Accessed May 23, 2011
-
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Colorectal Cancer Screening, Version 2.2011. http://www.nccn.org/ professionals/physician-gls/pdf/colorectal-screening.pdf Accessed May 23, 2011.
-
(2011)
Colorectal Cancer Screening
-
-
|