BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

Mads Thomassen; Thomas V O Hansen; Ake Borg; Henriette Theilmann Lianee; Friedrik Wikman; Inge Søkilde Pedersen; Marie Luise Bisgaard; Finn C Nielsen; Torben A Kruse; Anne-Marie Gerdes

doi:10.1080/02841860802004974

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

Mads Thomassen, Thomas V O Hansen, Ake Borg, Henriette Theilmann Lianee, Friedrik Wikman, Inge Søkilde Pedersen, Marie Luise Bisgaard, Finn C Nielsen, Torben A Kruse, Anne-Marie Gerdes

Department of Cellular and Molecular Medicine

35 Citations (Scopus)

Abstract

A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants. Seven hundred and twenty six mutation positive individuals were identified: 402 female BRCA1 carriers, 79 male BRCA1 carriers, 213 female BRCA2 carriers, and 32 male BRCA2 carriers by April 2006. Most of the mutations were frame shift or nonsense mutations, while large genomic rearrangements were rare. Most mutations were only identified in one family. A few mutations were detected repeatedly. In BRCA1 the most common mutations were: 2594delC in 32 families (16%), 3438G>T in 19 families (9%), 5382insC in 16 families (8%), 3829delT in 11 families (5%). In BRCA2 the most common mutations were: 6601delA in 13 families (11%), 1538del4 in 12 families (10%), 6714del4 in 10 families (9%). There was a tendency towards a higher frequency of BRCA2 mutations in West Denmark compared to East Denmark. The frequencies of specific BRCA1 and BRCA2 mutations were slightly different in the two regions. The mutations occurring in West Denmark have also been observed in other Scandinavian countries whereas the mutations occurring in East Denmark were more often reported from other European countries and the Baltic countries. The pattern of mutation distributions are comparable with observations from other Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and other European mutations including two of the Ashkenazi mutations. Even though a tendency towards founder mutations was observed most mutations were only detected once. Based on these observations we recommend that the mutation screening strategy of the BRCA1 and BRCA2 genes in Danish HBOC families comprises full screening of both genes including analysis for large genomic rearrangements.

Original language	English
Journal	Acta Odontologica Scandinavica
Volume	47
Issue number	4
Pages (from-to)	772-7
Number of pages	5
ISSN	0001-6357
DOIs	https://doi.org/10.1080/02841860802004974
Publication status	Published - 2008

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@article{608c7fc08edd11dd86a6000ea68e967b,

title = "BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.",

abstract = "A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants. Seven hundred and twenty six mutation positive individuals were identified: 402 female BRCA1 carriers, 79 male BRCA1 carriers, 213 female BRCA2 carriers, and 32 male BRCA2 carriers by April 2006. Most of the mutations were frame shift or nonsense mutations, while large genomic rearrangements were rare. Most mutations were only identified in one family. A few mutations were detected repeatedly. In BRCA1 the most common mutations were: 2594delC in 32 families (16%), 3438G>T in 19 families (9%), 5382insC in 16 families (8%), 3829delT in 11 families (5%). In BRCA2 the most common mutations were: 6601delA in 13 families (11%), 1538del4 in 12 families (10%), 6714del4 in 10 families (9%). There was a tendency towards a higher frequency of BRCA2 mutations in West Denmark compared to East Denmark. The frequencies of specific BRCA1 and BRCA2 mutations were slightly different in the two regions. The mutations occurring in West Denmark have also been observed in other Scandinavian countries whereas the mutations occurring in East Denmark were more often reported from other European countries and the Baltic countries. The pattern of mutation distributions are comparable with observations from other Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and other European mutations including two of the Ashkenazi mutations. Even though a tendency towards founder mutations was observed most mutations were only detected once. Based on these observations we recommend that the mutation screening strategy of the BRCA1 and BRCA2 genes in Danish HBOC families comprises full screening of both genes including analysis for large genomic rearrangements.",

author = "Mads Thomassen and Hansen, {Thomas V O} and Ake Borg and Lianee, {Henriette Theilmann} and Friedrik Wikman and Pedersen, {Inge S{\o}kilde} and Bisgaard, {Marie Luise} and Nielsen, {Finn C} and Kruse, {Torben A} and Anne-Marie Gerdes",

note = "Keywords: Breast Neoplasms; Denmark; Female; Frameshift Mutation; Genes, BRCA1; Genes, BRCA2; Genetic Predisposition to Disease; Genetic Screening; Humans; Male; Mutation, Missense; Ovarian Neoplasms",

year = "2008",

doi = "10.1080/02841860802004974",

language = "English",

volume = "47",

pages = "772--7",

journal = "Acta Odontologica Scandinavica",

issn = "0001-6357",

publisher = "Taylor & Francis",

number = "4",

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TY - JOUR

T1 - BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

AU - Thomassen, Mads

AU - Hansen, Thomas V O

AU - Borg, Ake

AU - Lianee, Henriette Theilmann

AU - Wikman, Friedrik

AU - Pedersen, Inge Søkilde

AU - Bisgaard, Marie Luise

AU - Nielsen, Finn C

AU - Kruse, Torben A

AU - Gerdes, Anne-Marie

N1 - Keywords: Breast Neoplasms; Denmark; Female; Frameshift Mutation; Genes, BRCA1; Genes, BRCA2; Genetic Predisposition to Disease; Genetic Screening; Humans; Male; Mutation, Missense; Ovarian Neoplasms

PY - 2008

Y1 - 2008

N2 - A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants. Seven hundred and twenty six mutation positive individuals were identified: 402 female BRCA1 carriers, 79 male BRCA1 carriers, 213 female BRCA2 carriers, and 32 male BRCA2 carriers by April 2006. Most of the mutations were frame shift or nonsense mutations, while large genomic rearrangements were rare. Most mutations were only identified in one family. A few mutations were detected repeatedly. In BRCA1 the most common mutations were: 2594delC in 32 families (16%), 3438G>T in 19 families (9%), 5382insC in 16 families (8%), 3829delT in 11 families (5%). In BRCA2 the most common mutations were: 6601delA in 13 families (11%), 1538del4 in 12 families (10%), 6714del4 in 10 families (9%). There was a tendency towards a higher frequency of BRCA2 mutations in West Denmark compared to East Denmark. The frequencies of specific BRCA1 and BRCA2 mutations were slightly different in the two regions. The mutations occurring in West Denmark have also been observed in other Scandinavian countries whereas the mutations occurring in East Denmark were more often reported from other European countries and the Baltic countries. The pattern of mutation distributions are comparable with observations from other Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and other European mutations including two of the Ashkenazi mutations. Even though a tendency towards founder mutations was observed most mutations were only detected once. Based on these observations we recommend that the mutation screening strategy of the BRCA1 and BRCA2 genes in Danish HBOC families comprises full screening of both genes including analysis for large genomic rearrangements.

AB - A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants. Seven hundred and twenty six mutation positive individuals were identified: 402 female BRCA1 carriers, 79 male BRCA1 carriers, 213 female BRCA2 carriers, and 32 male BRCA2 carriers by April 2006. Most of the mutations were frame shift or nonsense mutations, while large genomic rearrangements were rare. Most mutations were only identified in one family. A few mutations were detected repeatedly. In BRCA1 the most common mutations were: 2594delC in 32 families (16%), 3438G>T in 19 families (9%), 5382insC in 16 families (8%), 3829delT in 11 families (5%). In BRCA2 the most common mutations were: 6601delA in 13 families (11%), 1538del4 in 12 families (10%), 6714del4 in 10 families (9%). There was a tendency towards a higher frequency of BRCA2 mutations in West Denmark compared to East Denmark. The frequencies of specific BRCA1 and BRCA2 mutations were slightly different in the two regions. The mutations occurring in West Denmark have also been observed in other Scandinavian countries whereas the mutations occurring in East Denmark were more often reported from other European countries and the Baltic countries. The pattern of mutation distributions are comparable with observations from other Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and other European mutations including two of the Ashkenazi mutations. Even though a tendency towards founder mutations was observed most mutations were only detected once. Based on these observations we recommend that the mutation screening strategy of the BRCA1 and BRCA2 genes in Danish HBOC families comprises full screening of both genes including analysis for large genomic rearrangements.

U2 - 10.1080/02841860802004974

DO - 10.1080/02841860802004974

M3 - Journal article

C2 - 18465347

SN - 0001-6357

VL - 47

SP - 772

EP - 777

JO - Acta Odontologica Scandinavica

JF - Acta Odontologica Scandinavica

IS - 4

ER -

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

Abstract

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