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An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

https://arctichealth.org/en/permalink/ahliterature23409
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Publication Type
Article
Date
Jan-1995
Author
S A Narod
D. Ford
P. Devilee
R B Barkardottir
H T Lynch
S A Smith
B A Ponder
B L Weber
J E Garber
J M Birch
Author Affiliation
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Date
Jan-1995
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
BRCA1 Protein
Breast Neoplasms - epidemiology - genetics
Breast Neoplasms, Male - epidemiology - genetics
Chromosomes, Human, Pair 17
Female
Genetic Heterogeneity
Genetic Predisposition to Disease
Humans
Iceland - epidemiology
Lod Score
Male
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Multiple Primary - epidemiology - genetics
Neoplastic Syndromes, Hereditary - epidemiology - genetics
Netherlands - epidemiology
Ovarian Neoplasms - epidemiology - genetics
Pedigree
Transcription Factors - genetics
Abstract
The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.
PubMed ID
7825586 View in PubMed
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The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

https://arctichealth.org/en/permalink/ahliterature147689
Source
Clin Genet. 2009 Nov;76(5):421-6
Publication Type
Article
Date
Nov-2009
Author
P. Ghadirian
A. Robidoux
P. Zhang
R. Royer
M. Akbari
S. Zhang
E. Fafard
M. Costa
G. Martin
C. Potvin
E. Patocskai
N. Larouche
R. Younan
E. Nassif
S. Giroux
S A Narod
F. Rousseau
W D Foulkes
Author Affiliation
Epidemiology Research Unit, Research Centre, Centre hospitalier de l'Universite de Montreal-Hotel-Dieu, Montreal, Quebec, Canada.
Source
Clin Genet. 2009 Nov;76(5):421-6
Date
Nov-2009
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - epidemiology - genetics
Checkpoint Kinase 2
Female
Founder Effect
France - ethnology
Genetic Predisposition to Disease
Genetic Testing
Humans
Middle Aged
Mutation
Nuclear Proteins - genetics
Protein-Serine-Threonine Kinases - genetics
Quebec - epidemiology
Tumor Suppressor Proteins - genetics
Abstract
In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of unselected breast cancer patients from Quebec, nor in healthy controls. These estimates are necessary to measure their contribution to the hereditary burden of breast cancer in Quebec and to help develop genetic screening policies which are appropriate for the province. We studied 564 French-Canadian women with early-onset invasive breast cancer who were treated at a single Montreal hospital. Patients had been diagnosed at age 50 or less, and were ascertained between 2004 and 2008. We screened all 564 patients for nine founder mutations: four in BRCA1, three in BRCA2 and one each in PALB2 and CHEK2. We also studied 6433 DNA samples from newborn infants from the Quebec City area to estimate the frequency of the nine variant alleles in the French-Canadian population. We identified a mutation in 36 of the 564 breast cancer cases (6.4%) and in 35 of 6443 controls (0.5%). In the breast cancer patients, the majority of mutations were in BRCA2 (54%). However, in the general population (newborn infants), the majority of mutations were in CHEK2 (54%). The odds ratio for breast cancer to age 50, given a BRCA1 mutation, was 10.1 (95% CI: 3.7-28) and given a BRCA2 mutation was 29.5 (95% CI: 12.9-67). The odds ratio for breast cancer to age 50, given a CHEK2 mutation, was 3.6 (95% CI: 1.4-9.1). One-half of the women with a mutation had a first- or second-degree relative diagnosed with breast or ovarian cancer. Thus, it can be concluded that a predisposing mutation in BRCA1, BRCA2, CHEK2 or PALB2 is present in approximately 6% of French-Canadian women with early-onset breast cancer. It is reasonable to offer screening for founder mutations to all French-Canadian women with breast cancer before age 50. The frequency of these mutations in the general population (0.5%) is too low to advocate population-based screening.
PubMed ID
19863560 View in PubMed
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Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation.

https://arctichealth.org/en/permalink/ahliterature108679
Source
Clin Genet. 2014 Jan;85(1):21-30
Publication Type
Article
Date
Jan-2014
Author
K A Metcalfe
C. Kim-Sing
P. Ghadirian
P. Sun
S A Narod
Author Affiliation
Familial Breast Cancer Research Institute, Women's College Research Institute, Toronto, Ontario, Canada; Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, Canada.
Source
Clin Genet. 2014 Jan;85(1):21-30
Date
Jan-2014
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Age of Onset
Breast Neoplasms - genetics - prevention & control
Canada
Female
Genes, BRCA1
Genes, BRCA2
Genetic Counseling
Health Personnel
Hereditary Breast and Ovarian Cancer Syndrome - genetics - prevention & control
Humans
Male
Mastectomy
Middle Aged
Mutation
Neoplasms - genetics - prevention & control
Ovarian Neoplasms - genetics - prevention & control
Ovariectomy
Practice Guidelines as Topic
Premedication
Questionnaires
Tamoxifen - therapeutic use
Abstract
There is a significant variation in the uptake of cancer risk reducing options by women with a BRCA1 or BRCA2 mutation. It is currently unclear why these differences exist and it is possible that recommendations vary between providers and these influence patient decisions. Eligible health care providers who provide genetic counseling for hereditary breast and ovarian cancer families in Canada were identified. Each provider was asked to complete a study specific questionnaire that included their opinion of various cancer risk reduction options and their recommendations for specific cases. Respondents recommended prophylactic oophorectomy more often than prophylactic mastectomy or tamoxifen for women with a BRCA1 or BRCA2 mutation (p?
PubMed ID
23859469 View in PubMed
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The importance of a family history of breast cancer in predicting the presence of a BRCA mutation.

https://arctichealth.org/en/permalink/ahliterature200139
Source
Am J Hum Genet. 1999 Dec;65(6):1776-9
Publication Type
Article
Date
Dec-1999
Author
W D Foulkes
J S Brunet
E. Warner
P J Goodwin
W. Meschino
S A Narod
P E Goss
G. Glendon
Source
Am J Hum Genet. 1999 Dec;65(6):1776-9
Date
Dec-1999
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Age of Onset
BRCA2 Protein
Breast Neoplasms - ethnology - genetics
Canada
District of Columbia
Family Health
Female
Founder Effect
Gene Frequency
Genes, BRCA1 - genetics
Heterozygote
Humans
Jews - genetics
Middle Aged
Mutation - genetics
Neoplasm Proteins - genetics
Odds Ratio
Transcription Factors - genetics
Notes
Cites: JAMA. 1997 Oct 15;278(15):1242-509333265
Cites: Cancer. 1997 Aug 1;80(3):435-419241077
Cites: J Natl Cancer Inst. 1999 Jul 21;91(14):1241-710413426
Cites: Am J Hum Genet. 1998 Jul;63(1):45-519634504
Cites: Am J Hum Genet. 1999 Apr;64(4):963-7010090881
Comment On: Am J Hum Genet. 1999 Apr;64(4):963-7010090881
PubMed ID
10577933 View in PubMed
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Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families.

https://arctichealth.org/en/permalink/ahliterature212073
Source
Nat Genet. 1996 May;13(1):120-2
Publication Type
Article
Date
May-1996
Author
C M Phelan
J M Lancaster
P. Tonin
C. Gumbs
C. Cochran
R. Carter
P. Ghadirian
C. Perret
R. Moslehi
F. Dion
M C Faucher
K. Dole
S. Karimi
W. Foulkes
H. Lounis
E. Warner
P. Goss
D. Anderson
C. Larsson
S A Narod
P A Futreal
Author Affiliation
Department of Human Genetic and Medicine, McGill University, Montreal, Quebec, Canada.
Source
Nat Genet. 1996 May;13(1):120-2
Date
May-1996
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
Amino Acid Sequence
BRCA1 Protein
BRCA2 Protein
Base Sequence
Breast Neoplasms - genetics
Breast Neoplasms, Male - genetics
Canada
Codon
DNA Mutational Analysis
Exons
Family
Female
France - ethnology
Humans
Male
Middle Aged
Neoplasm Proteins - genetics
Pancreatic Neoplasms - genetics
Pedigree
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Deletion
Transcription Factors - genetics
Abstract
The hereditary breast cancer gene BRCA2 was recently cloned and is believed to account for almost half of site-specific breast cancer families and the majority of male breast cancer families. We screened 49 site-specific breast cancer families for mutations in the BRCA2 gene using single strand conformation analysis (SSCA) followed by direct sequencing. We found mutations in eight families, including all four families with male breast cancer. The eight mutations were small deletions with the exception of a single nonsense mutation, an all were predicted to interrupt the BRCA2 coding sequence and to lead to a truncated protein product. Other factors which predicted the presence of a BRCA2 mutation included a case of breast cancer diagnosed at age 35 or below (P = 0.01) and a family history of pancreatic cancer (P = 0.03). Two mutations were seen twice, including a 8535delAG, which was detected in two French Canadian families. Our results suggest the possibility that the proportion of site-specific breast cancer families attributable to BRCA2 may be overestimated.
Notes
Comment In: Nat Genet. 1996 May;13(1):16-78673095
Erratum In: Nat Genet 1996 Jul;13(3):374
PubMed ID
8673090 View in PubMed
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Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada.

https://arctichealth.org/en/permalink/ahliterature190968
Source
Clin Breast Cancer. 2000 Apr;1(1):57-63; discussion 64-5
Publication Type
Article
Date
Apr-2000
Author
N. Wolpert
E. Warner
M F Seminsky
A. Futreal
S A Narod
Author Affiliation
Queens University, Kingston, Ontario, Canada.
Source
Clin Breast Cancer. 2000 Apr;1(1):57-63; discussion 64-5
Date
Apr-2000
Language
English
Publication Type
Article
Keywords
Adult
Age Distribution
Age of Onset
Aged
Alcoholism - complications
Breast Neoplasms, Male - diagnosis - epidemiology - genetics
DNA Mutational Analysis - methods
Genes, BRCA1
Genes, BRCA2
Genetic Counseling
Genetic Predisposition to Disease - epidemiology - genetics
Genetic Testing - methods
Germ-Line Mutation - genetics
Heterozygote
Humans
Male
Medical History Taking
Middle Aged
Ontario - epidemiology
Pedigree
Prevalence
Registries
Risk factors
Abstract
Men who inherit a mutation in the BRCA2 gene carry a 6% risk of developing breast cancer by the age of 70. The proportion of male breast cancers attributable to BRCA mutations has not yet been determined with accuracy. We studied a series of 14 male breast cancer patients, unselected for family history or ethnicity, who were treated at a single regional cancer center in Canada. Family histories were obtained, and the men were tested for germ-line mutations of BRCA1 and BRCA2. Seven of these patients had a significant family history of breast cancer (i.e., at least one first- or second-degree relative with breast cancer diagnosed before age 70). Two of the men carried BRCA2 mutations, but no BRCA1 mutations were found. Both mutation carriers reported a positive family history and a personal history of cancer that preceded their diagnosis of breast cancer. Our results support the recommendation that male breast cancer patients who have a significant family history of breast or ovarian cancer should be offered genetic counseling and testing.
PubMed ID
11899391 View in PubMed
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The risk of contralateral breast cancer in daughters of women with and without breast cancer.

https://arctichealth.org/en/permalink/ahliterature278696
Source
Clin Genet. 2016 Mar;89(3):332-5
Publication Type
Article
Date
Mar-2016
Author
S A Narod
E. Kharazmi
M. Fallah
K. Sundquist
K. Hemminki
Source
Clin Genet. 2016 Mar;89(3):332-5
Date
Mar-2016
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Breast Neoplasms - epidemiology
Female
Humans
Middle Aged
Neoplastic Syndromes, Hereditary - epidemiology
Nuclear Family
Risk
Sweden - epidemiology
Abstract
We aimed to estimate the 15-year and lifetime risks of contralateral breast cancer in breast cancer patients according to the age of diagnosis of the first cancer and the history of breast cancer in the mother. The risks of contralateral breast cancer were estimated for all 78,775 breast cancer patients in the Swedish Family-Cancer Database (age at diagnosis of first breast cancer
PubMed ID
25920602 View in PubMed
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7 records – page 1 of 1.