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  • 1
    Electronic Resource
    Electronic Resource
    Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Haemophilia 2 (1996), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Haemophilia A is an X-linked recessive bleeding disorder of variable severity that is caused by a deficiency of coagulation factor VIII (FVIII). The disease results from mutations in the FVIII gene which are heterogenous both in type and position within the gene. Recently, however, inversion mutations were found to be common to patients with severe disease (Lakich et al., 1993). These mutations result from intrachromosomal recombinations between DNA sequences in the A gene (located in intron 22 of the FVIII gene) and one of two A genes upstream to the FVIII gene. To determine the frequency of these inversions we performed Southern blot analysis on banked DNA from 166 consecutive, unrelated haemophilia A families previously referred for carrier or prenatal testing. In 57/166 (34%) families an inversion or other unique mutation was detected. The distal and proximal A genes lying upstream to the FVIII gene were involved in 79% and 18% of the mutations, respectively, but in 3% of the families the sequences involved in the mutation have not been identified. In 20/38 (53%) families with severe disease a mutation was detected. Interestingly, the relative risk of developing inhibitors in patients with FVIII gene inversions or other 3° mutations detected by this assay, as compared to patients with no detectable mutation by this assay, was 3.8. In families for which a mutation is detected, direct DNA testing is an accurate and inexpensive alternative to linkage analysis for prenatal or haemophilia A carrier testing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.1996.tb00004.x
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  • 2
    Electronic Resource
    Electronic Resource
    Anatomic indicators (histologic and cytologic) of increased breast cancer risk (1993)
    Springer
    Breast cancer research and treatment 28 (1993), S. 157-166 
    Details
    ISSN: 1573-7217
    Keywords: breast cancer precursors ; cytology ; ductal carcinoma in situ ; fine needle aspiration ; histology ; hyperplastic lesions ; risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Anatomic indicators of increased breast cancer risk have regularly been identified as hyperplastic lesions, analogous to other body sites. Most of these have been shown to indicate a later increased risk anywhere in either breast and should thus be regarded as indicators or markers of increased risk. Unfortunately, these are largely identified incidentally to current methods of detection. Specific combined histologic and cytologic criteria for the definition of these lesions have been evaluated for both their reproducibility of diagnosis and outcome variables. Several studies agree that usual patterns of hyperplasia of at least moderate degree indicate an increased risk of later breast carcinoma between 1.5 and 2 times that of the general population. The specifically defined examples of atypical hyperplasia, lesions of relative rarity, are found in 4–5% of biopsies (depending upon method of detection) and recognize a risk in the range of 4–5 times that of the general population controlled for age and duration of follow-up. Thus, several cohort studies using comparable criteria for definition of the anatomic lesions have found similar clinical outcomes. Other approaches to histologic definition have produced a lesser degree of separation between the non “atypical” and other forms of hyperplasia. Although it is not clear whether we are dealing with continuous variables or discrete histologic/cytologic variables, it is clear that when combined criteria are used, a greater degree of predictability is obtained. Other related risk features include most predominantly family history, which when present with atypical hyperplasia indicates an increased risk beyond that of either alone. Other means of detection of these various lesions, such as fine needle aspiration cytology, have not been verified. True non-obligate precursors of breast cancer are probably confined to low grade and non-comedo ductal carcinomas of the breast.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00666428
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  • 3
    Electronic Resource
    Electronic Resource
    Genomic DNA analysis of the estrogen receptor gene in breast cancer (1989)
    Springer
    Breast cancer research and treatment 14 (1989), S. 57-64 
    Details
    ISSN: 1573-7217
    Keywords: breast cancer ; estrogen receptor ; RFLP ; alleles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A human estrogen receptor (ER) cDNA probe was used to examine genomic DNA extracted from 59 primary invasive breast cancers. The tumors were also studied histopathologically, and their ER status was assessed by hormone-binding assay and immunohistochemical analysis. Southern blots of genomic DNA samples digested with restriction endonucleases (BamHI, EcoRI, HindIII, PvuII, XbaI) revealed identical restriction fragments for each tumor, indicating preservation of gross ER gene integrity regardless of ER status, clinical stage, or histopathologic appearance. Digestion with PvuII identified a single, two-allele polymorphism with band(s) at 1.6 and/or 0.7 kb. The homozygous 1.6 kb pattern was present in 14 (24%) patients, the heterozygous 1.6/0.7 kb pattern in 29 (49%) patients and the homozygous 0.7 kb pattern in 16 (27%) patients. The PvuII restriction fragment length polymorphism (RFLP) within the ER gene showed no correlation with the results of the ER binding assay, the immunohistochemical analysis, clinical stage, or histopathologic appearance. A significant correlation was found between the genotypes and patient age at the time of tumor diagnosis. Tumors with the homozygous 1.6 kb and the heterozygous 1.6/0.7 kb patterns were observed in older women with mean ages of 64.6 and 64.4 years, respectively. In contrast, patients with tumors containing the homozygous 0.7 kb pattern were significantly younger, with a mean age of 50.4 years (p-value = 0.0024). The mechanism by which the homozygous 0.7 kb genotype is associated with breast cancer in the premenopausal age group is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805976
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  • 4
    Electronic Resource
    Electronic Resource
    Monoclonality in fibroadenomas with complex histology and phyllodal features (1998)
    Springer
    Breast cancer research and treatment 50 (1998), S. 185-191 
    Details
    ISSN: 1573-7217
    Keywords: breast ; fibroadenoma ; human androgen receptor gene ; monoclonality ; X-chromosome inactivation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fibroadenoma is a common cause of benign breast masses in young women. These women have a slightly increased risk of subsequent breast cancer, particularly if their tumors have complex histologic patterns. We assessed monoclonality in fibroadenomas and correlated the results with histologic analysis. We performed a clonal analysis of 52 fibroadenomas from 43 patients using X-chromosome inactivation studies. The cases included fibroadenomas with complex and simple histology. Areas examined were predominantly stroma but epithelium was also present. DNA was isolated from paraffin-embedded tissue and was subjected to polymerase chain reaction amplification of the human androgen receptor gene with and without predigestion of the DNA with Hha 1. If a monoclonal process was identified, the epithelial and stromal components were subsequently microdissected and reanalyzed. 36/43 (83.7%) women were heterozygous. We studied 45 tumors in these 36 informative women. 1/20 (5% complex fibroadenomas and 1/25 (4%) simple fibroadenomas were monoclonal. The epithelial component of both monoclonal fibroadenomas was polyclonal. The one monoclonal simple fibroadenoma was also the only one with mixed features to contain a phyllodes component. In this case, monoclonality was found in the stroma of both the fibroadenoma and phyllodes regions. Monoclonality has been previously associated with phyllodes phenotype, but not with fibroadenomas, except for 3 fibroadenomas that recurred as phyllodes tumor. We report that monoclonality may also be seen occasionally in complex fibroadenomas, and was found in a tumors with mixed fibroadenoma/phyllodes features without clinical recurrence for 4 years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006050208157
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  • 5
    Electronic Resource
    Electronic Resource
    Historical and Epidemiologic Background of Human Premalignant Breast Disease (2000)
    Springer
    Journal of mammary gland biology and neoplasia 5 (2000), S. 341-349 
    Details
    ISSN: 1573-7039
    Keywords: Premalignancy ; risk ; breast cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Premalignant breast disease in humans is a concept that admits to a broad range of elements and possible determinants predicting the likelihood of developing breast cancer. Most of these elements are relative, such as the risk of breast cancer for women that is 130 times that of men and peaks at a younger age by about 10 years. Breast cancer is clearly a stochastic, multifactorial process that evolves over many years in which we must make predictions by likelihood. This review will present the most specially defined and reliably proven of these elements, highlighting anatomic and molecular factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009521726605
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  • 6
    Electronic Resource
    Electronic Resource
    Diagnostic criteria and cancer risk of proliferative breast lesions (1993)
    New York, N.Y. : Wiley-Blackwell
    Journal of Cellular Biochemistry 53 (1993), S. 59-64 
    Details
    ISSN: 0730-2312
    Keywords: Atypical hyperplasia ; breast cancer ; cancer risk ; hyperplasia ; family history ; premalignancy ; proliferative disease ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Breast cancer risk assessment in women following a benign breast biopsy is a promising area with regard to intermediate endpoint determination, and has been particularly fostered by the consensus agreement concerning the risk attributed to specific diagnoses [1]. Several recent studies have largely verified this approach [2-4], and a recent report demonstrates general agreement among most expert pathologists regarding diagnostic criteria for these lesions [5]. However, in a limited number of cases, determining exact levels of risk for individual patients has been problematic as a result of a failure by pathologists to achieve consensus on diagnostic criteria for these same lesions. This situation has arisen primarily because it is much more tenable to disagree over subjective diagnostic criteria, than it is to argue with robustly supported epidemiological data. Without agreement on reproducible diagnostic criteria, widely promulgated consensus risk estimates for these specific histologic entities are no longer applicable. In addition, those individuals who choose different diagnostic criteria for proliferative breast lesions fail to realize that the terminology, epidemiological risk estimates, and diagnostic criteria used by Dupont and Page are inexorably linked. Since the publication of the consensus statement [1], those using the terms “atypical ductal hyperplasia” and “atypical lobular hyperplasia” have by default accepted the diagnostic criteria of Dupont and Page. Therefore, surgical pathologists who desire to make use of the consensus risk estimates must familiarize themselves with diagnostic criteria for the various histologic entities that comprise proliferative disease of the breast as defined by Dupont and Page [6]. This presentation will concentrate on the importance of a combined histologic and cytologic approach to diagnose proliferative breast lesions, and will specifically focus on usual hyperplasia, atypical ductal hyperplasia, atypical lobular hyperplasia, and both ductal and lobular carcinoma in situ.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/jcb.240531111
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  • 7
    Electronic Resource
    Electronic Resource
    Indicators of increased breast cancer risk in humans (1992)
    New York, N.Y. : Wiley-Blackwell
    Journal of Cellular Biochemistry 50 (1992), S. 175-182 
    Details
    ISSN: 0730-2312
    Keywords: atypical hyperplasia ; breast cancer ; cancer risk ; family history ; hyperplasia ; premalignancy ; proliferative disease ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Specific atypical histological patterns of epithelial hyperplasia (AH) indicate a medically relevant risk of breast cancer development in 5-10% of women with otherwise benign biopsies. This risk is about four times that of similar womer, i.e., of the same age and at risk for the same length of time. These relative risks are not stable with time and fall 10-15 years after detection. Absolute risk for invasive breast cancer after AH is about 10% in 10-15 years after biopsy and is most certain for perimenopausal women. Proliferative disease without atypia predicts only a slight elevation of risk with a relative risk (RR) of 1.5 to 2 times that to the general population.There is such a strong interaction between family history and AH that it is relevant to consider women with atypical hyperplasia who have a positive family history (FH) of breast cancer separately from those who do not. The absolute risk of breast cancer development in women with AH without a FH was 8% in 10 years (RR about 4), whereas those with a positive family history experienced a risk of about 20% at 15 years (RR of about10). This interaction of AH and FH has also been observed in other recent studies.Low replacement doses of conjugated estrogen after menopause do not further elevate risk beyond that identified by hostology. In our cohort of over 10,000 women who underwent benign breast biopsy in Nashville, TN, we found no association between proliferative breast disease without atypia and a first-degree FH of breast cancer; the prevalence of these lesions was 27% and 29% in women with and without such a history, respectively. Women with this family hostory did, however, have a higher prevalence of AH than did women without this history (4.8% versus 3.9%, respectively; p = 0.02). It would appear that these histologic lesions are not due to an estrogen effect, but are an unrelated phenomenon, and that FH of breast cancer is not related to the proliferative lesions associated with only slightly increased risk of breast cancer.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/jcb.240501130
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