BRCA1/2 testing: Complex themes in result interpretation

Journal of Clinical Oncology

Volumn 19, Issue 9, 2001, Pages 2555-2565

  Peshkin, B N ^a   DeMarco, T A ^a   Brogan, B M ^a   Lerman, C ^a   Isaacs, C ^a  

^a GEORGETOWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; TAMOXIFEN;

ADULT; ARTICLE; BREAST CANCER; CANCER FAMILY; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; DECISION MAKING; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; HEALTH CARE DELIVERY; HIGH RISK POPULATION; HUMAN; MASTECTOMY; OVARY CANCER; PRIORITY JOURNAL; SOCIAL PSYCHOLOGY;

EID: 0035339930     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2001.19.9.2555     Document Type: Article

References (82)

1. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
2. Identification of the breast cancer susceptibility gene BRCA2
3. Genetic counseling: A preview of what's in store
4. Pitfalls of genetic testing
5. Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2
6. Breast cancer in carriers of BRCA1 and BRCA2 mutations: Tackling a molecular and clinical conundrum
7. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
8. Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk
9. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
10. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
11. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
12. BRCA1 sequence analysis in women at high risk for susceptibility mutations: Risk factor analysis and implications for genetic testing
13. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2
14. Cancer risks in BRCA2 mutation carriers
15. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations
16. Novel indications for BRCA1 screening using individual clinical and morphological features
17. Malignant ovarian germ cell tumours: A survival and prognostic analysis
18. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1
19. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer
20. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases
21. Intraductal component and BRCA1-associated breast cancer
22. BRCA1 and BRCA2 hereditary breast carcinoma phenotypes
23. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations
24. Second malignancies after treatment of early-stage breast cancer: Lumpectomy and radiation therapy versus mastectomy
25. Local recurrence following lumpectomy and irradiation in familial and hereditary vs sporadic breast cancer patients
26. The key and the lamppost
27. Risks of cancer in BRCA1-mutation carriers
28. Breast and ovarian cancer incidence in BRCA1-mutation carriers: The Breast Cancer Linkage Consortium
29. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1
30. BRCA-associated breast cancer in young women
31. Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations
32. A step toward genotype-based therapeutic regimens for breast cancer in patients with BRCA2 mutations?
33. BRCA1/2 germline mutations: A marker for radioresistance or radiosensitivity?
34. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations
35. BRCA1 and BRCA2: From molecular genetics to clinical medicine
36. Inherited breast cancer: Increasingly familiar territory
37. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer
38. Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutation carriers
39. Factors women take into account when deciding upon type of surgery for breast cancer
40. Breast conservation therapy in the United States following the 1990 National Institutes of Health Consensus Development Conference on the treatment of patients with early stage invasive breast carcinoma
41. Tamoxifen for early breast cancer: An overview of the randomised trials
42. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study
43. NIH Consensus Conference: Ovarian cancer screening, treatment and follow-up
44. Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer
45. Management of familial breast cancer risk
46. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
47. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer
48. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions
49. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene: The Breast Cancer Information Core
50. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
51. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing
52. A cancer family syndrome in twenty-four kindreds
53. Will the real Cowden syndrome please stand up: Revised diagnostic criteria
54. Marker segregation information in breast/ovarian cancer genetic counseling: Is it still useful?
55. Conversion of diploidy to haploidy
56. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus
57. Study of a single BRCA2 mutation with high carrier frequency in a small population
58. BRCA1 mutations in African Americans
59. BRCA1 sequence variants in 160 individuals referred to a breast/ovarian family cancer clinic
60. Identification of a RING protein that can interact in vivo with the BRCA1 gene product
61. Molecular genetic diagnosis for hereditary cancer
62. Missense mutations in disease genes: A Bayesian approach to evaluate causality
63. The genetic attributable risk of breast and ovarian cancer
64. Mutations in BRCA1 from fixed, paraffin-embedded tissue can be artifacts of preservation
65. An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2
66. Practical guide for estimating risk for familial breast cancer
67. The accuracy of patient reports of a family history of cancer
68. The accuracy of diagnoses as reported in families with cancer: A retrospective study
69. The duty to recontact: Attitudes of genetics service providers
70. Psychosocial issues in BRCA1/2 testing
71. Predisposition genetic testing for late-onset disorders in adults: A position paper of the National Society of Genetic Counselors
72. BRCA1 testing in families with hereditary breast-ovarian cancer: A prospective study of patient decision making and outcomes
73. Psychological responses to BRCA1 mutation testing: Preliminary findings
74. Decision-making about breast cancer susceptibility testing: How similar are the attitudes of physicians, nurse practitioners, and at-risk women?
75. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility
76. Genetic testing for susceptibility to adult-onset cancer: The process and content of informed consent
77. Genetic counseling and testing for breast-ovarian cancer susceptibility: What do women want?
78. Cancer genetic testing and risk assessment counseling
79. Society of Surgical Oncology: Statement on genetic testing for cancer susceptibility