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Biomedical subjects

V Blair

Publications and source records attributed to V Blair.

At least 37 records · Page 2Linked to original sources
PubMed1994

The impact of genetic counselling on risk perception in women with a family history of breast cancer.

Women with a family history of breast cancer generally self-refer because they have a feeling that their risk is high. However, they have, in general, only a hazy notion of the population risk of breast cancer and their own risk in relation to this. It is probable that they are helped by genetic counselling and, if at substantial risk, by annual mammography. However, the psychological impact of assigning true risk and the value of mammography need to be evaluated. We have assessed risk perception by questionnaire in 517 new referrals to a family history clinic and 200 women returning to the clinic at least 1 year after counselling. Correct assignment of population lifetime risk of breast cancer was 16% in the uninformed precounsel group and 33% in the post-counsel group, likewise personal risk was correct in 11% and 41% respectively. Post-counsel women were significantly more likely to retain information if they were sent a post-clinic letter or if they assessed their personal risk as too high initially.

Adult↗
PubMed1994

Malformations in children with soft tissue sarcoma and in their parents and siblings.

The presence of malformations in a population-based series of 181 children diagnosed with soft tissue sarcoma and in the majority of their parents and siblings was ascertained from family interviews and medical records. Five index children (2.8%) had serious anomalies, a figure not in excess of that derived from general population data. Fourteen siblings (4%) were affected, and higher rates of malformations were seen in siblings of female case children (P = 0.06) and siblings of children with visceral tumours (P = 0.03). There was no correlation between site of tumour in the index and specific organ system anomalies in the index or in their respective siblings. The survey indicated that there are unlikely to be strong associations between childhood soft tissue sarcoma and major malformations, a situation distinct from that found in Wilms' tumour.

Adolescent↗
PubMed1993

Assessment of relative risk of second primary tumors after ovarian cancer and of the usefulness of double primary cases as a source of material for genetic studies with a cancer registry.

BACKGROUND: It now is accepted that a small proportion of people with certain forms of cancer have a dominantly inherited gene fault that predisposes them to it. This is more likely with an early age at onset or when the person has had multiple primary tumors. METHODS: Population-based data from the North West Regional Cancer Registry of England regarding 4157 ovarian cancer cases diagnosed between 1980 and 1989 were analyzed to determine the relative risks (RR) of second primary breast and colorectal carcinomas. RESULTS: Elevated risks approaching significance were observed for breast and colorectal carcinoma subsequent to ovarian cancer. After stratification into groups for ovarian histopathologic characteristics and age at onset, significantly elevated risks were obtained for both breast and colorectal tumors after ovarian carcinoma for women younger than 60 years of age at onset and with serous histopathologic characteristics (breast RR, 2.68, P < 0.05; colorectal RR, 4.25, P < 0.05). CONCLUSIONS: These results emphasize the need for greater awareness of the possibility of development of additional cancer after ovarian carcinoma in high-risk groups. Overall, the study supports the theory that breast, colorectal, and ovarian tumors are related genetically.

Adult↗
PubMed1993

Patterns of cancer in the families of children with soft tissue sarcoma.

BACKGROUND: Childhood soft tissue sarcomas are known to occur in a number of genetic syndromes. This study assesses the proportion of soft tissue sarcoma diagnosed in childhood associated with genetic predisposition to cancer. METHODS: Information on the occurrence of neoplastic disease was collected for 151 of 179 families of a population-based series of children with soft tissue sarcoma. RESULTS: Considering the index child as the proband, 5 of the 151 families manifested the classic Li-Fraumeni cancer family syndrome according to standard criteria and a further 10 families showed features consistent with the syndrome. One proband had double primary syndrome cancers. One other family had a sibling pair of childhood cancers, seven families had cancer which had occurred in childhood in other relatives, and three families had adult-onset sarcomas in more distant relatives. In another 16 families, one parent or the other had developed a possible syndrome cancer, or had developed cancer when younger than 60 years of age. Two families showed striking clusters of stomach cancer. Five case children were thought to have been affected with neurofibromatosis. CONCLUSIONS: Genetic predisposition to cancer was thought to be present in 7% to 33% of families interviewed.

Child↗
PubMed1993

Multiple primary tumours in a population-based series of patients with histopathologically peer-reviewed sarcomas.

Multiple primary tumours occurring in a three-year population-based series of patients with histopathologically peer-reviewed sarcomas from North West England were ascertained in order to look at the patterns of neoplasms seen. A total of 30 out of the 310 patients entered in the study had additional primary tumours. Very few patients were aged under 60 years at diagnosis of both their malignancies. The youngest was a known case of neurofibromatosis and, although seven patients were diagnosed with a sarcoma and carcinoma of the breast--a combination of cancers characteristic of the Li-Fraumeni cancer family syndrome--no other patients could directly be identified as suffering from any other cancer predisposition syndrome.

Adult↗
PubMed1993

Cancer in young people in the north of England, 1968-85: analysis by census wards.

OBJECTIVE: To determine whether the seeming excess of childhood leukaemia and lymphoma identified in Seascale, Cumbria, UK, remains unusual when put into a wider context. DESIGN: Analysis of cancer incidence by geographical area. SETTING: The north of England including the Northern and North Western Regional Health Authority regions and the Southport and South Sefton districts of the Mersey Regional Health Authority. SUBJECTS: Altogether 6686 cases of malignant disease in people under 25 years old. MEASUREMENTS AND MAIN RESULTS: Cases of cancer diagnosed before their 25th birthday between January 1968 and December 1985 identified from three regional cancer registries were allocated to a census ward on the basis of 'usual place of residence'. Population data were derived from the 1971 and 1981 censuses, and the cancer incidence was calculated for each ward. Of the 6686 cases, there were 1035 cases of acute lymphoblastic leukaemia and 361 of non-Hodgkins lymphoma. Wards were ranked by cancer incidence and Poisson probability, using different population bases. Seascale ward is the most highly ranked ward for acute lymphoblastic leukaemia for the time periods 1968-85 or 1968-76. It is not the most highly ranked for non-Hodgkins lymphoma. However, combining acute lymphoblastic leukaemia and non-Hodgkins lymphoma incidence gives an even more extreme position for Seascale. The most extreme Poisson probability for any of the analyses was that for brain tumours in the electoral ward of Ashton St Michael, Tameside (p = 0.000009). CONCLUSION: The incidence of acute lymphoblastic leukaemia and non-Hodgkins lymphoma in the Seascale ward remains high when put into a wider context. For other cancers there are wards with even more extreme Poisson probability values.

Adolescent↗
PubMed1992

Lung cancer following Hodgkin's disease: a case-control study.

It is recognized that survivors of Hodgkin's disease are at a substantially increased risk of lung cancer. A collaborative group of population-based cancer registries and major treatment centers carried out a case-control study, in which 98 cases of lung cancer were identified in patients who had survived at least 1 year following a diagnosis of Hodgkin's disease. A total of 259 matched controls were selected from patients with Hodgkin's disease who did not develop subsequent lung cancer, and for both cases and controls detailed information was abstracted from medical records concerning stage and treatment of Hodgkin's disease. Patients treated with chemotherapy alone had about twice the risk of developing lung cancer than those treated by radiotherapy alone or both modalities. There was no increase in risk with cumulative number of cycles of chemotherapy. Among patients treated with radiotherapy alone, there was an increase in risk related to estimated radiation dose to the lung. There was also a strong association between cigarette smoking and the risk of lung cancer. The finding of a higher risk following chemotherapy than following radiotherapy was unexpected, but could not be explained by any identified methodological flaws. A plausible inference from the study is that all forms of Hodgkin's disease therapy are carcinogenic to the lung and that, in particular, chemotherapy is associated with an increase in risk which is at least comparable to and perhaps higher than the risk produced by radiotherapy.

Antineoplastic Agents↗
PubMed1992

Sarcomas in north west England: III. Survival.

Survival data on a population-based series of bone, soft tissue and visceral sarcomas diagnosed in the North West of England between 1982-84 and subjected to histopathological peer review are presented. Five-year crude survival for all cases was 34%. Survival in males and females did not differ significantly (P = 0.6, 5-year survival 32% vs 36%) but was markedly worse for patients diagnosed over the median age of 60 years, even when allowance was made for underlying mortality (P = 0.03, 34% vs 44%). Five-year survival rates for the major site groups were: bone 44%; soft tissues of head, neck and trunk 36%; soft tissues of extremities 35%; female genital tract 35%; retroperitoneum 15%; gastro-intestinal tract 13%. Analysis by the major histological types revealed the following survival rates: leiomyosarcoma--female genital tract 25%, gastro-intestinal tract 14%, non-visceral soft tissue 21%; malignant fibrous histiocytoma of soft tissue 29%; liposarcoma 52%; osteosarcoma of bone 46%; and chondrosarcoma of bone 50%.

Adult↗
PubMed1992

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

A clinical and genetic study of type 2 neurofibromatosis (NF2) has been carried out in the United Kingdom. Virtually complete ascertainment of cases in the north-west of England was achieved and suggests a population incidence of 1 in 33,000 to 40,000. In the UK as a whole, 150 cases have been identified and been used to study the clinical and genetic features of NF2. The autosomal dominant inheritance of NF2 was confirmed, 49% of cases were assessed as representing new mutations, and the mutation rate was estimated to be 6.5 x 10(-6). Evidence to support a maternal gene effect was found in that age at onset was 18.17 years in 36 maternally inherited cases and 24.5 in 20 paternally inherited cases (p = 0.027). The preponderance of maternally inherited cases was also significant (p = 0.03). Data are presented which suggest that there are two types of NF2, one with later onset and bilateral vestibular schwannomas as the only usual feature, and the other with earlier onset and multiple other tumours. A considerable number of cases did not fall easily into one or other group and other factors such as maternal effect on severity and anticipation need to be considered.

Adolescent↗
PubMed1992

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

The major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumours. In 97 cases studied personally by the authors, skin and eye examination were found to be useful to detect early signs of the condition. Examination of the skin is likely to assist in early diagnosis in at least 10% of cases and examination of the eye for a lens opacity or cataract in at least as many again. There are marked interfamilial differences in disease severity and tumour susceptibility. Vestibular schwannomas are not fully penetrant, but the condition is usually expressed in another way. Alteration to the current diagnostic criteria is advocated to cover the lack of provision for new mutations. A screening protocol is proposed and the effect of disease heterogeneity on management is discussed.

Adolescent↗
PubMed1992

A clinical study of type 2 neurofibromatosis.

The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas and spinal tumours. In 100 patients studied personally by the authors 44 per cent presented with deafness and this was unilateral in the majority (35/44). Deafness was accompanied by tinnitus in a further 10 per cent and muscle weakness or wasting was the first symptom in 12 per cent. Less common presenting symptoms were seizures (8 per cent), vertigo (8 per cent) numbness and tingling (2 per cent) and blindness (1 per cent). Eleven patients were diagnosed asymptomatically through screening. Café au lait spots occurred in 43 per cent (n = 43) but only one case had six. Skin tumours were detected in 68 per cent (68/100) and 38 per cent (34/90) had an identifiable lens opacity or cataract. The mean age at death in 40 cases was 36.25 years and all but one death was a result of a complication of neurofibromatosis. There are marked inter-family differences in disease severity and tumour susceptibility.

Adult↗
PubMed1992

The epidemiology of infant cancers.

Cancers in infants represent less than 0.05% of all malignant neoplasms, but form a particularly interesting group for study. The ratio of solid tumours to leukaemias is 2:1 in children aged 1-14 but 5:1 in infants less than 1 year. The rate for neuroblastoma which is the most common malignancy in infants is four times higher in children aged under 1 year than in 1-14 year olds. Other embryonal tumours, e.g. Wilms', heptablastoma and retinoblastoma also show higher rates in infants. The ratios of incidence in males to females differed in a number of instances in the two age groups, e.g. in leukaemias and liver tumours the male to female ratio is greater than one in 1-14 year old children but less than one in infants. These observations suggest that many infant tumours may be aetiologically distinct. Their early onset and predominantly embryonal nature suggest a pre-natal origin and genetic factors may be important.

Adolescent↗
PubMed1991

Cancer risk in second degree relatives of children with soft tissue sarcoma.

The risk of cancer in the second degree relatives of a population-based series of children with soft tissue sarcoma was studied in relation to (i) various characteristics in these relatives, (ii) certain clinical features in the index children previously identified as risk factors for cancer in their first degree relatives. Overall there was a non-significant deficit of cancers in the second degree relatives (RR = 0.88) and cancer risk was unrelated to type or site of cancer, type of relative, or to risk factors in the index case. The findings indicate that although the families investigated may include a proportion with the Li-Fraumeni cancer family syndrome, the increased cancer risk already reported in the first degree relatives does not extent to second degree relatives in general.

Adolescent↗
PubMed1991

Sarcomas in north west England: I. Histopathological peer review.

A total of 468 cases of bone, soft tissue and visceral sarcomas (and certain other tumours) diagnosed during the years 1982-84 in North West England were entered in a study of histopathological peer review, incidence and survival. This paper describes the effects of peer review. Material was reviewed by a panel of five pathologists for 413 of the 450 cases originally registered as sarcomas with the Regional Cancer Registry. The diagnosis of sarcomas was confirmed in 76% cases and and there was agreement on sub-type for 53% cases. Measures of agreement were lowest for the two sub-types most commonly diagnosed i.e. malignant fibrous histiocytoma and leiomyosarcoma. Degree of agreement between individual pathologists and final panel diagnosis was also very variable but never less than 65%. It is concluded that second opinion is essential in cases of presumed sarcomas for studies of incidence and aetiology and to ensure that appropriate treatment is selected.

Bone Neoplasms↗
PubMed1991

Sarcomas in north west England: II. Incidence.

Incidence data on a population-based series of bone, soft tissue and visceral sarcomas from the North West of England are presented. The data are derived mainly from a total of 429 cases registered with the North Western Regional Cancer Registry and diagnosed during the period 1982-84, 76% of which were confirmed as sarcomas by a panel of five pathologists. Overall incidence of confirmed sarcomas per million person years was slightly higher in females (26.81) than in males (24.71) but there was no sex difference when 38 non-reviewed cases were taken into consideration (females 29.07, males (28.83). After exclusion of tumours of female genital tract, incidence of soft tissue tumours was very similar in both sexes (females 18.25, males 18.70). Bone tumours were almost twice as frequent in males (6.01) as in females (3.55).

Age Factors↗
PubMed1991

Malignant disease in the mothers of a population-based series of young adults with bone and soft tissue sarcomas.

Mothers of a population-based series of young adults with bone and soft tissue sarcoma were traced and their cancer risks estimated. No overall excess of cancers compared with expected numbers calculated from population rates was seen but mothers of patients with synovial sarcoma had significantly more cancers than expected and this was accounted for mainly by an excess of breast cancer. In addition there were strong indications that a proportion of cases were members of families with inherited cancer-prone syndromes, in particular with neurofibromatosis or with the Li Fraumeni cancer family syndrome.

Adolescent↗