Erratum: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

Antoniou, Antonis C.; Cunningham, Alex; Peto, Julian; Lalloo, Fiona; Narod, S. A.; Risch, H. A.; Eyfjörd, J.E.; Hopper, John L.; Southey, Melissa C.; Olsson, Håkan; Jóhannsson, Óskar Þór; Borg, Åke; Pasini, Barbara; Radice, Paolo; Manoukian, Siranoush; Eccles, Diana; Tang, Neng; Olàh, Edith; Anton‐Culver, Hoda; Warner, Eiran; Lubiński, Jan; Gronwald, Jacek; Górski, Bohdan; Tryggvadóttír, Laufey; Syrjäkoski, Kirsi; Kallioniemi, Olli; Eerola, Hannaleena; Nevanlinna, H. R.; Pharoah, Paul D.P.; Easton, Douglas F.

doi:10.1038/sj.bjc.6604411

Cited by 12 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is estimated that BRCA2 mutation carriers have a 45% chance of developing breast cancer and a 11% risk of developing ovarian cancer by age 70 [3]. While BRCA2- The recombination frequency was evaluated as the number of clones formed/number of cells seeded corrected for plating efficiency truncating mutations have been associated with increased risks of cancer in carriers, the contribution of other BRCA2 variants to cancer risk remains largely undefined.…”

Section: Discussionmentioning

confidence: 99%

“…However, the remaining 20% of cases are inheritable, and about 40% of those are caused by mutations in one of the two tumour suppressor genes, BRCA1 and BRCA2 [1,2]. Breast Cancer 2 gene (BRCA2) mutation carriers have a 45% chance of developing breast cancer and a 11% risk of developing ovarian cancer by age 70 [3]. The pathogenicity of many changes in BRCA2 is easily predicted from the nature of the mutation.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

Balia

Galli

Caligo

2011

Breast Cancer Res Treat

View full text Add to dashboard Cite

Breast Cancer 2 gene (BRCA2) mutation carriers have a 45% chance of developing breast cancer and a 11% risk of developing ovarian cancer by the age of 70. While hundreds of BRCA2-truncating mutations have been associated with an increased cancer risk in carriers, the contribution of unclassified variants (UCVs) to cancer risk remains largely undefined. BRCA2-defective cells show a high degree of chromosome instability. Although a functional assay based on the BRCA2 capability to stimulate DSB-induced homologous recombination (HR) as a way to classify UCVs has been proposed, so far no data are available concerning the effect of BRCA2 UCVs on spontaneous HR. In this study, we proposed a novel functional HR-based assay that determines the effect of the transient overexpression of the BRCA2 variant on spontaneous HR. This assay will help one in the difficult task of classifying UCVs, and it will give more information on how BRCA2 may induce genome instability and on the basic mechanism of BRCA2-induced tumourigenesis. We chose 11 BRCA2 UCVs not previously described or classified in other articles, and distributed along the entire BRCA2-coding region. They are as follows: G173V, D191V, S286P, M927V, T1011R, L1019V, N1878K, S2006R, R2108C, G2353R and V3091I. Basically, because the expression of BRCA2wt and the neutral variants did not increase spontaneous HR, we classified the variants G173V, S286P, M927V, T1011R and L1019V as HR-negative and presumed that they were not pathogenic. The HR-positive variants, D191V, N1878K, S2006R, R2108C, G2353R, and V3091I, which increased HR as much as the cancer-associated variant G2748D, could probably be classified as pathogenic. We observed that all our variants in the C-terminus of the protein behaved differently from the wt, suggesting a role for this protein region in spontaneous HR.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

Balia

Galli

Caligo

2011

Breast Cancer Res Treat

View full text Add to dashboard Cite

show abstract

“…In about 5-10% of breast cancer patients, we assume a genetic disposition; woman with germ-line mutations in BRCA1 or BRCA2 have a lifetime risk of 50-80% of developing breast cancer, a 30-40% risk of cancer in the contralateral breast after breast cancer, and a 10-40% risk of developing ovarian carcinoma [70][71][72][73][74]. Up to date, there is no special thera peutical recommendation for these cases of obvious family history; therapy therefore follows guidelines for sporadic breast cancer.…”

Section: Breast Cancer In Brca Mutation Carriers or Family History Ofmentioning

confidence: 99%

Extent of Primary Breast Cancer Surgery: Standards and Individualized Concepts

et al. 2012

View full text Add to dashboard Cite

Surgery is still a main therapeutic option in breast cancer treatment. Nowadays, methods of resection and reconstruction vary according to different tumors and patients. This review presents and discusses standards of care and arising questions on how radical primary breast cancer surgery should be according to different clinical situations. In most early breast cancer patients, breast conservation is the method of choice. The discussion on resection margins is still controversial as different studies show conflicting results. Modified radical mastectomy is the standard in locally advanced breast cancer patients, although there are different promising approaches to spare skin or even the nipple-areola complex. A sentinel node biopsy is the standard of care in clinically node-negative invasive breast cancer patients, whereas the significance of axillary lymphonodectomy seems to be questioned through a number of different findings. Although there are interesting findings to modify surgical approaches in very young or elderly breast cancer patients, it will always be an individualized approach if we do not adhere to current guidelines. Up to date, there are no special surgical procedures in BRCA mutation carriers or patients of high-risk families.

show abstract

Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens

Evans

Lalloo

Howell

et al. 2016

Breast Cancer Res Treat

View full text Add to dashboard Cite

The aim of this study is to delineate more clearly the prevalence of HER2+ breast cancer in women with germline BRCA1/2 mutations. For this purpose, we analysed primary mutation screens on women with breast cancer with unequivocal HER2 amplification and assessed the proportion of BRCA1 and BRCA2 breast cancers that were HER2+ comparing this with the existing literature. The results are that 1063 primary BRCA screens had confirmed tumour HER2 status. If HER2+ only 2.5 % (4/156) and 3.2 % (5/156) of women had a BRCA1 or BRCA2 mutation identified respectively; compared to 27.7 % (115/415) and 8.2 % (34/415) with triple negative tumours. Only 2.1 % (4/195) women with BRCA1-related breast cancer had HER2 amplified breast cancers rising to 6.8 % (n = 12, p = 0.04) in BRCA2. These rates are in keeping with most of the existing literature except a recent large multicenter report which documented higher rates but with no control group. The study concluded that true HER2-amplified breast cancers are rare amongst BRCA1 mutation carriers and are less common in BRCA2 than background rates.

show abstract

Erratum: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

Cited by 12 publications

References 0 publications

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

Extent of Primary Breast Cancer Surgery: Standards and Individualized Concepts

Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens

Contact Info

Product

Resources

About