Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews

Like the Progress Educational Trust on Facebook


 


 

Cancer risk genes: could PALB2 be BRCA3?

11 August 2014

By Dr Kimberley Bryon-Dodd

Appeared in BioNews 766

A new study suggests that mutations in a gene called PALB2 are just behind BRCA1 and BRCA2 mutations as a leading genetic risk factor for breast cancer.

The findings, published in the New England Journal of Medicine, indicate that women with mutations in the PALB2 gene have, on average, a one in three chance of developing breast cancer by the age of 70.

PALB2 is known to interact with both BRCA1 and BRCA2, with all three genes playing an important role in repairing damaged DNA. PALB2 was first linked with breast cancer in 2007 (see BioNews 390) but the associated risk of developing the disease had not yet been established.

Dr Marc Tischkowitz from the University of Cambridge, who led the study, said: 'Since the BRCA1 and BRCA2 mutations were discovered in the mid-90s, no other genes of similar importance have been found and the consensus in the scientific community is that if more existed we would have found them by now. PALB2 is a potential candidate to be "BRCA3"'.

The PALB2 Interest Group, an international team of researchers, analysed data from 154 families without BRCA1 or BRCA2 mutations, which included 362 people with PALB2 gene mutations. The scientists found that for people carrying a PALB2 mutation the risk of developing breast cancer was 35 percent, but could be even greater if there was also a strong family history of breast cancer.

Additionally, the researchers found that women with PALB2 mutations who were born more recently tended to be at a higher lifetime risk of developing breast cancer than those born earlier.

A similar phenomenon has been observed in BRCA mutation carriers and the reasons for it are unclear. The scientists speculate that factors such as later age at first childbirth, smaller families and earlier cancer diagnosis may play a part.

Reassuringly, only a very small proportion of women worldwide carry PALB2 mutations. Study co-author Professor William Foulkes, from McGill University in Montreal, Canada, told CBS News that roughly one in a thousand women are thought to be carriers. Further studies are required to obtain a more precise figure.

All the same, the researchers at Addenbrooke's Hospital, part of Cambridge University NHS Hospitals Trust, have developed a test for PALB2 mutations, which will become part of their clinical service.

Dr Tischkowitz said: 'Now that we have identified this gene, we are in a position to provide genetic counselling and advice. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening'.

Have your say about breast cancer and genetic testing, by taking a minute to complete the Breast Cancer Poll on BioNews here.

SOURCES & REFERENCES
The New England Journal of Medicine | 07 August 2014
 
EurekAlert! (press release) | 06 August 2014
 
CBS News | 07 August 2014
 
Bloomberg | 07 August 2014
 
New York Times | 06 August 2014
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

17 August 2015 - by Dr Nicoletta Charolidi 
Researchers have found that tests for multiple breast and ovarian cancer risk genes can be used to inform treatment decisions for women with personal or family history for such cancers...
13 April 2015 - by Hannah Somers 
A new wide-ranging test that looks at multiple sites in the DNA code could help predict a woman's risk of developing breast cancer...
16 March 2015 - by Meghna Kataria 
A new study has uncovered fifteen novel 'hotspots' in the human genome that increase a woman's risk of developing breast cancer - bringing the total count of known genetic risk factors to 94...
09 February 2015 - by Dr Molly Godfrey 
A genetic test to estimate the chance of breast cancer recurrence after surgery is set to become more widely available on the NHS....
19 January 2015 - by Kirsty Oswald 
UK researchers have identified a gene that is active in a difficult-to-treat form of breast cancer, raising the possibility of developing targeted treatments.

02 June 2014 - by James Brooks 
Is the benefit attributed to widespread breast cancer screening programmes supported by the evidence? What to make of the phenomenon of overdiagnosis, where patients are treated for cancers that would not have spread or been problematic in their lifetime?...
07 April 2014 - by Baroness Delyth Morgan 
The news of Angelina Jolie's mastectomy last year brought breast cancer genetics, risk and prevention into the international spotlight. Her decision was only possible due to the efforts of researchers, over the past twenty years and more, to identify the inherited genetic mutations...
02 December 2013 - by Dr Charlotte Warren-Gash 
Women from families with a history of carrying the cancer risk gene BRCA2, but who test negative for it, may be at higher risk of breast cancer than previously thought...
08 January 2007 - by Dr Jess Buxton 
UK scientists have identified a gene which, when mutated, doubles the risk of breast cancer developing in women who inherit a single copy. A faulty copy of the PALB2 gene is linked to an increased lifetime risk of the disease, from around one in nine to...

HAVE YOUR SAY
Be the first to have your say.

You need to or  to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions


- click here to enquire about using this story.

Published by the Progress Educational Trust

CROSSING FRONTIERS

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Andy Greenfield

Dr Anna Smajdor

Dr Henry Malter

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross

Sandy Starr


BOOK HERE

Good Fundraising Code

Become a Friend of PET HERE and give the Progress Educational Trust a regular donation