Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families

Astrid Elisabeth Bruun Boilesen; Marie Luise Bisgaard; Inge Bernstein; Astrid Elisabeth Bruun Boilesen; Marie Luise Bisgaard; Inge Bernstein

doi:10.1080/00016340802443806

Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families

Astrid Elisabeth Bruun Boilesen, Marie Luise Bisgaard, Inge Bernstein, Astrid Elisabeth Bruun Boilesen, Marie Luise Bisgaard, Inge Bernstein

Department of Clinical Medicine

26 Citations (Scopus)

Abstract

OBJECTIVE: Women in hereditary non-polyposis colorectal cancer (HNPCC) families have an elevated risk of endometrial and ovarian cancer. The risk in Lynch syndrome families with known mutations in mismatch repair genes (MMR genes) seems to be higher than in familial colorectal cancer (CRC) families. Data in the Danish HNPCC register on the frequency and lifetime risk of gynecologic cancers were analyzed and the actual surveillance strategy discussed in relation to the results. DESIGN: Register-based retrospective study. METHOD: A total of 1,780 at-risk women were identified and epidemiological, clinical and MMR gene mutation data were retrieved. RESULTS: In a total of 105 cases of endometrial cancer, there was no significant difference in MSH2, MSH6 and MLH1 mutation carrier frequency. Compared to the general population, mutation carriers had a 20 times increase in lifetime risk of endometrial cancer. Lifetime risk was elevated four times in familial CRC families. In these families, frequency was correlated to the pedigree phenotype, with significantly higher frequency demonstrated in Amsterdam II families compared to Amsterdam I families and families suspected of HNPCC. A total of 39 cases of ovarian cancer were identified with a lifetime risk of three to four times the general population. No significant correlation was found between the frequency of ovarian cancer and MMR gene mutation status in the families. CONCLUSION: The benefit of surveillance concerning gynecological cancers seems to be less well founded in familial CRC families than in Lynch syndrome families. Modifying the surveillance strategy may be relevant in the future, but before changing existing guidelines concerning surveillance, further research is recommended.

Original language	English
Journal	Acta Obstetricia et Gynecologica Scandinavica
Volume	87
Issue number	11
Pages (from-to)	1129-35
Number of pages	6
ISSN	0001-6349
DOIs	https://doi.org/10.1080/00016340802443806 https://doi.org/10.1080/00016340802443806
Publication status	Published - 2008

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@article{070379b0db3911dd9473000ea68e967b,

title = "Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families",

abstract = "OBJECTIVE: Women in hereditary non-polyposis colorectal cancer (HNPCC) families have an elevated risk of endometrial and ovarian cancer. The risk in Lynch syndrome families with known mutations in mismatch repair genes (MMR genes) seems to be higher than in familial colorectal cancer (CRC) families. Data in the Danish HNPCC register on the frequency and lifetime risk of gynecologic cancers were analyzed and the actual surveillance strategy discussed in relation to the results. DESIGN: Register-based retrospective study. METHOD: A total of 1,780 at-risk women were identified and epidemiological, clinical and MMR gene mutation data were retrieved. RESULTS: In a total of 105 cases of endometrial cancer, there was no significant difference in MSH2, MSH6 and MLH1 mutation carrier frequency. Compared to the general population, mutation carriers had a 20 times increase in lifetime risk of endometrial cancer. Lifetime risk was elevated four times in familial CRC families. In these families, frequency was correlated to the pedigree phenotype, with significantly higher frequency demonstrated in Amsterdam II families compared to Amsterdam I families and families suspected of HNPCC. A total of 39 cases of ovarian cancer were identified with a lifetime risk of three to four times the general population. No significant correlation was found between the frequency of ovarian cancer and MMR gene mutation status in the families. CONCLUSION: The benefit of surveillance concerning gynecological cancers seems to be less well founded in familial CRC families than in Lynch syndrome families. Modifying the surveillance strategy may be relevant in the future, but before changing existing guidelines concerning surveillance, further research is recommended.",

author = "Boilesen, {Astrid Elisabeth Bruun} and Bisgaard, {Marie Luise} and Inge Bernstein and Boilesen, {Astrid Elisabeth Bruun} and Bisgaard, {Marie Luise} and Inge Bernstein",

note = "Keywords: Adaptor Proteins, Signal Transducing; Adult; Aged; Aged, 80 and over; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Mismatch Repair; DNA-Binding Proteins; Denmark; Endometrial Neoplasms; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Lynch Syndrome II; Middle Aged; MutS Homolog 2 Protein; Nuclear Proteins; Ovarian Neoplasms; Population Surveillance; Registries; Retrospective Studies; Risk Assessment; Risk Factors",

year = "2008",

doi = "10.1080/00016340802443806",

language = "English",

volume = "87",

pages = "1129--35",

journal = "Acta Obstetricia et Gynecologica Scandinavica",

issn = "0001-6349",

publisher = "JohnWiley & Sons Ltd",

number = "11",

}

TY - JOUR

T1 - Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families

AU - Boilesen, Astrid Elisabeth Bruun

AU - Bisgaard, Marie Luise

AU - Bernstein, Inge

AU - Boilesen, Astrid Elisabeth Bruun

AU - Bisgaard, Marie Luise

AU - Bernstein, Inge

N1 - Keywords: Adaptor Proteins, Signal Transducing; Adult; Aged; Aged, 80 and over; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Mismatch Repair; DNA-Binding Proteins; Denmark; Endometrial Neoplasms; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Lynch Syndrome II; Middle Aged; MutS Homolog 2 Protein; Nuclear Proteins; Ovarian Neoplasms; Population Surveillance; Registries; Retrospective Studies; Risk Assessment; Risk Factors

PY - 2008

Y1 - 2008

N2 - OBJECTIVE: Women in hereditary non-polyposis colorectal cancer (HNPCC) families have an elevated risk of endometrial and ovarian cancer. The risk in Lynch syndrome families with known mutations in mismatch repair genes (MMR genes) seems to be higher than in familial colorectal cancer (CRC) families. Data in the Danish HNPCC register on the frequency and lifetime risk of gynecologic cancers were analyzed and the actual surveillance strategy discussed in relation to the results. DESIGN: Register-based retrospective study. METHOD: A total of 1,780 at-risk women were identified and epidemiological, clinical and MMR gene mutation data were retrieved. RESULTS: In a total of 105 cases of endometrial cancer, there was no significant difference in MSH2, MSH6 and MLH1 mutation carrier frequency. Compared to the general population, mutation carriers had a 20 times increase in lifetime risk of endometrial cancer. Lifetime risk was elevated four times in familial CRC families. In these families, frequency was correlated to the pedigree phenotype, with significantly higher frequency demonstrated in Amsterdam II families compared to Amsterdam I families and families suspected of HNPCC. A total of 39 cases of ovarian cancer were identified with a lifetime risk of three to four times the general population. No significant correlation was found between the frequency of ovarian cancer and MMR gene mutation status in the families. CONCLUSION: The benefit of surveillance concerning gynecological cancers seems to be less well founded in familial CRC families than in Lynch syndrome families. Modifying the surveillance strategy may be relevant in the future, but before changing existing guidelines concerning surveillance, further research is recommended.

AB - OBJECTIVE: Women in hereditary non-polyposis colorectal cancer (HNPCC) families have an elevated risk of endometrial and ovarian cancer. The risk in Lynch syndrome families with known mutations in mismatch repair genes (MMR genes) seems to be higher than in familial colorectal cancer (CRC) families. Data in the Danish HNPCC register on the frequency and lifetime risk of gynecologic cancers were analyzed and the actual surveillance strategy discussed in relation to the results. DESIGN: Register-based retrospective study. METHOD: A total of 1,780 at-risk women were identified and epidemiological, clinical and MMR gene mutation data were retrieved. RESULTS: In a total of 105 cases of endometrial cancer, there was no significant difference in MSH2, MSH6 and MLH1 mutation carrier frequency. Compared to the general population, mutation carriers had a 20 times increase in lifetime risk of endometrial cancer. Lifetime risk was elevated four times in familial CRC families. In these families, frequency was correlated to the pedigree phenotype, with significantly higher frequency demonstrated in Amsterdam II families compared to Amsterdam I families and families suspected of HNPCC. A total of 39 cases of ovarian cancer were identified with a lifetime risk of three to four times the general population. No significant correlation was found between the frequency of ovarian cancer and MMR gene mutation status in the families. CONCLUSION: The benefit of surveillance concerning gynecological cancers seems to be less well founded in familial CRC families than in Lynch syndrome families. Modifying the surveillance strategy may be relevant in the future, but before changing existing guidelines concerning surveillance, further research is recommended.

U2 - 10.1080/00016340802443806

DO - 10.1080/00016340802443806

M3 - Journal article

C2 - 18972272

SN - 0001-6349

VL - 87

SP - 1129

EP - 1135

JO - Acta Obstetricia et Gynecologica Scandinavica

JF - Acta Obstetricia et Gynecologica Scandinavica

IS - 11

ER -

Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families

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