The University of Southampton
University of Southampton Institutional Repository

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer. This study evaluated mutation frequency of these genes in early-onset breast cancer patients, and correlated this with family history and determined relative risks to family members. Patients with breast adenocarcinoma diagnosed <= 30 years were ascertained between 1980 and 1997. Family history was established and mutation screening of BRCA1, BRCA2 and TP53 genes was performed. Estimates of penetrance and relative risk were undertaken. DNA was obtained from 100/139 women. 17/36 familial cases had a BRCA1, BRCA2 or TP53 mutation. Of 64 non-familial cases, one BRCA2, two BRCA1 and two TP53 mutations were detected. Penetrance estimates (by age 70) for breast cancer were 84% for BRCA1 mutations and 91% for BRCA2 mutations and for ovarian cancer, 60% and 26%, respectively Relative risks associated with mutations were consistent with previous studies. BRCA1 and BRCA2 mutations in patients with breast cancer <= 30 years are predicted strongly by family history. The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers. (c) 2006 Elsevier Ltd. All rights reserved
BRCA1, BRCA2, TP53, familial breast cancer, family history
0959-8049
1143-1150
Lalloo, Fiona
d7ac29ee-10db-49a5-af3c-265b6d1c113d
Varley, Jennifer
c250a38b-772b-469a-b908-c878cba806e8
Moran, Anthony
599eb80d-b95b-436c-aeef-d62fb414d85a
Ellis, David
dfb6c681-4a10-40a7-8ed5-88eb6fe8d98e
O'Dair, Lindsay
5ecc82aa-1b89-4b76-8685-621a44258fa1
Pharoah, Paul
64b86198-95c7-4b5d-81b1-169f57054cbd
Antoniou, Antonis
0b8d5407-4268-4acb-a868-0bbc23303363
Hartley, Roger
ef16b282-eb1c-4fbf-b2f2-84434b52be13
Shenton, Andrew
58787a93-3640-419d-8767-fd446ee4c222
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Bulman, Barbara
c8aab618-f876-47e5-aa98-017f538a928f
Howell, Anthony
1a0a7e78-3d51-4e76-8cd5-bd46cb90d588
Evans, D. Gareth R.
879bb945-4b7f-4cd6-b62c-f6b75f45f02c
Lalloo, Fiona
d7ac29ee-10db-49a5-af3c-265b6d1c113d
Varley, Jennifer
c250a38b-772b-469a-b908-c878cba806e8
Moran, Anthony
599eb80d-b95b-436c-aeef-d62fb414d85a
Ellis, David
dfb6c681-4a10-40a7-8ed5-88eb6fe8d98e
O'Dair, Lindsay
5ecc82aa-1b89-4b76-8685-621a44258fa1
Pharoah, Paul
64b86198-95c7-4b5d-81b1-169f57054cbd
Antoniou, Antonis
0b8d5407-4268-4acb-a868-0bbc23303363
Hartley, Roger
ef16b282-eb1c-4fbf-b2f2-84434b52be13
Shenton, Andrew
58787a93-3640-419d-8767-fd446ee4c222
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Bulman, Barbara
c8aab618-f876-47e5-aa98-017f538a928f
Howell, Anthony
1a0a7e78-3d51-4e76-8cd5-bd46cb90d588
Evans, D. Gareth R.
879bb945-4b7f-4cd6-b62c-f6b75f45f02c

Lalloo, Fiona, Varley, Jennifer, Moran, Anthony, Ellis, David, O'Dair, Lindsay, Pharoah, Paul, Antoniou, Antonis, Hartley, Roger, Shenton, Andrew, Seal, Sheila, Bulman, Barbara, Howell, Anthony and Evans, D. Gareth R. (2006) BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. European Journal of Cancer, 42 (8), 1143-1150. (doi:10.1016/j.ejca.2005.11.032).

Record type: Article

Abstract

Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer. This study evaluated mutation frequency of these genes in early-onset breast cancer patients, and correlated this with family history and determined relative risks to family members. Patients with breast adenocarcinoma diagnosed <= 30 years were ascertained between 1980 and 1997. Family history was established and mutation screening of BRCA1, BRCA2 and TP53 genes was performed. Estimates of penetrance and relative risk were undertaken. DNA was obtained from 100/139 women. 17/36 familial cases had a BRCA1, BRCA2 or TP53 mutation. Of 64 non-familial cases, one BRCA2, two BRCA1 and two TP53 mutations were detected. Penetrance estimates (by age 70) for breast cancer were 84% for BRCA1 mutations and 91% for BRCA2 mutations and for ovarian cancer, 60% and 26%, respectively Relative risks associated with mutations were consistent with previous studies. BRCA1 and BRCA2 mutations in patients with breast cancer <= 30 years are predicted strongly by family history. The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers. (c) 2006 Elsevier Ltd. All rights reserved

Full text not available from this repository.

More information

Published date: May 2006
Keywords: BRCA1, BRCA2, TP53, familial breast cancer, family history

Identifiers

Local EPrints ID: 62824
URI: http://eprints.soton.ac.uk/id/eprint/62824
ISSN: 0959-8049
PURE UUID: 3035de26-2f36-4a17-b94e-c40fa81d543b

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:27

Export record

Altmetrics

Contributors

Author: Fiona Lalloo
Author: Jennifer Varley
Author: Anthony Moran
Author: David Ellis
Author: Lindsay O'Dair
Author: Paul Pharoah
Author: Antonis Antoniou
Author: Roger Hartley
Author: Andrew Shenton
Author: Sheila Seal
Author: Barbara Bulman
Author: Anthony Howell
Author: D. Gareth R. Evans

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×