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Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds

Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
Background: Women with a germline mutation in one of the MMR genes MLH1, MSH2 or MSH6 reportedly have 4–12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. Prophylactic bilateral salpingo-oophorectomy (PBSO) has been suggested for preventing this condition.

Aim: The purpose of this retrospective multicentre study was to describe survival in carriers of pathogenic mutations in one of the MMR genes, and who had contracted ovarian cancer.

Methods: Women who had ovarian cancer, and who tested positive for or were obligate carriers of an MMR mutation, were included from 11 European centres for hereditary cancer. Most women had not attended for gynaecological screening. Crude and disease specific survival was calculated by the Kaplan–Meier algorithm.

Results: Among the 144 women included, 81.5% had FIGO stage 1 or 2 at diagnosis. 10 year ovarian cancer specific survival independent of staging was 80.6%, compared to less than 40% that is reported both in population based series and in BRCA mutation carriers. Disease specific 30 year survival for ovarian cancer was 71.5%, and for all hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome related cancers including ovarian cancer it was 47.3%.

Conclusions: In the series examined, infiltrating ovarian cancer in Lynch syndrome had a better prognosis than infiltrating ovarian cancer in BRCA1/2 mutation carriers or in the general population. Lifetime risk of ovarian cancer of about 10% and a risk of dying of ovarian cancer of 20% gave a lifetime risk of dying of ovarian cancer of about 2% in female MMR mutation carriers.
0022-2593
99-102
Grindedal, Eli M.
1971e576-6c95-4765-861f-d01a49a17c13
Renkonen-Sinisalo, Laura
15765f5f-42d6-4a97-b418-87a347ff53db
Vasen, Hans
f06afc40-a2e3-4033-a881-662b3934878f
Evans, Gareth
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Sala, Paola
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Blanco, Ignacio
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Gronwald, Jacek
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Apold, Jaran
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Eccles, Diana
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Sanchez, Ángel Alonso
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Sampson, Julian
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Jarvinen, Heikki J.
c88292a6-ed82-4321-be97-bf0c59806949
Bertario, Lucio
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Crawford, Gillan C.
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Stormorken, Astrid T.
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Maehle, Lovise
d36d3d47-c751-4744-bc73-d82fd6bf47d4
Moller, Pal
72f197e1-cd66-4f9e-863f-f671ac8670c2
Grindedal, Eli M.
1971e576-6c95-4765-861f-d01a49a17c13
Renkonen-Sinisalo, Laura
15765f5f-42d6-4a97-b418-87a347ff53db
Vasen, Hans
f06afc40-a2e3-4033-a881-662b3934878f
Evans, Gareth
ee001bc1-9b29-4a58-a251-a27b18eff669
Sala, Paola
d8e5e8ac-abd9-4373-9562-f1afb434b15e
Blanco, Ignacio
27cfc95d-deca-4fc4-8bfb-c162edd24e0e
Gronwald, Jacek
4a0117ac-84f8-4351-a97d-637a60db25f6
Apold, Jaran
39f4a511-7b54-44a1-a7cb-1b3924eca9a8
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Sanchez, Ángel Alonso
2e7924ae-bf66-4488-b8dc-746984722eb2
Sampson, Julian
3ba59b69-352a-4c82-b8ae-7ddffb2a283d
Jarvinen, Heikki J.
c88292a6-ed82-4321-be97-bf0c59806949
Bertario, Lucio
4e19d5e5-a4f2-4797-b305-56a6c8e6ca96
Crawford, Gillan C.
80f97f7a-7b9d-44f6-9297-03f4985aca93
Stormorken, Astrid T.
58489f9e-ba1b-43f2-98a5-8dd61c66c9f9
Maehle, Lovise
d36d3d47-c751-4744-bc73-d82fd6bf47d4
Moller, Pal
72f197e1-cd66-4f9e-863f-f671ac8670c2

Grindedal, Eli M., Renkonen-Sinisalo, Laura, Vasen, Hans, Evans, Gareth, Sala, Paola, Blanco, Ignacio, Gronwald, Jacek, Apold, Jaran, Eccles, Diana, Sanchez, Ángel Alonso, Sampson, Julian, Jarvinen, Heikki J., Bertario, Lucio, Crawford, Gillan C., Stormorken, Astrid T., Maehle, Lovise and Moller, Pal (2010) Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. Journal of Medical Genetics, 47 (2), 99-102. (doi:10.1136/jmg.2009.068130). (PMID:19635727)

Record type: Article

Abstract

Background: Women with a germline mutation in one of the MMR genes MLH1, MSH2 or MSH6 reportedly have 4–12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. Prophylactic bilateral salpingo-oophorectomy (PBSO) has been suggested for preventing this condition.

Aim: The purpose of this retrospective multicentre study was to describe survival in carriers of pathogenic mutations in one of the MMR genes, and who had contracted ovarian cancer.

Methods: Women who had ovarian cancer, and who tested positive for or were obligate carriers of an MMR mutation, were included from 11 European centres for hereditary cancer. Most women had not attended for gynaecological screening. Crude and disease specific survival was calculated by the Kaplan–Meier algorithm.

Results: Among the 144 women included, 81.5% had FIGO stage 1 or 2 at diagnosis. 10 year ovarian cancer specific survival independent of staging was 80.6%, compared to less than 40% that is reported both in population based series and in BRCA mutation carriers. Disease specific 30 year survival for ovarian cancer was 71.5%, and for all hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome related cancers including ovarian cancer it was 47.3%.

Conclusions: In the series examined, infiltrating ovarian cancer in Lynch syndrome had a better prognosis than infiltrating ovarian cancer in BRCA1/2 mutation carriers or in the general population. Lifetime risk of ovarian cancer of about 10% and a risk of dying of ovarian cancer of 20% gave a lifetime risk of dying of ovarian cancer of about 2% in female MMR mutation carriers.

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Published date: 26 July 2010

Identifiers

Local EPrints ID: 180151
URI: http://eprints.soton.ac.uk/id/eprint/180151
ISSN: 0022-2593
PURE UUID: e30a1a92-5266-41f9-80a4-98b38eb84c28
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 05 Apr 2011 13:27
Last modified: 15 Mar 2024 02:40

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Contributors

Author: Eli M. Grindedal
Author: Laura Renkonen-Sinisalo
Author: Hans Vasen
Author: Gareth Evans
Author: Paola Sala
Author: Ignacio Blanco
Author: Jacek Gronwald
Author: Jaran Apold
Author: Diana Eccles ORCID iD
Author: Ángel Alonso Sanchez
Author: Julian Sampson
Author: Heikki J. Jarvinen
Author: Lucio Bertario
Author: Gillan C. Crawford
Author: Astrid T. Stormorken
Author: Lovise Maehle
Author: Pal Moller

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