𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Earlier age of onset of BRCA mutation-related cancers in subsequent generations

✍ Scribed by Jennifer K. Litton; Kaylene Ready; Huiqin Chen; Angelica Gutierrez-Barrera; Carol J. Etzel; Funda Meric-Bernstam; Ana M. Gonzalez-Angulo; Huong Le-Petross; Karen Lu; Gabriel N. Hortobagyi; Banu K. Arun

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
125 KB
Volume
118
Category
Article
ISSN
0008-543X

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

BACKGROUND:

Women who are diagnosed with a deleterious mutation in either breast cancer (BRCA) gene have a high risk of developing breast and ovarian cancers at young ages. In this study, the authors assessed age at diagnosis in 2 generations of families with known mutations to investigate for earlier onset in subsequent generations.

METHODS:

Of the 132 BRCA‐positive women with breast cancer who participated in a high‐risk protocol at The University of Texas MD Anderson Cancer Center (Gen 2), 106 women could be paired with a family member in the previous generation (Gen 1) who was diagnosed with a BRCA‐related cancer (either breast cancer or ovarian cancer). Age at diagnosis, location of the mutation, and year of birth were recorded. A previously published parametric anticipation model was applied in these genetically predisposed families.

RESULTS:

The median age of cancer diagnosis was 42 years (range, 28‐55 years) in Gen 2 and 48 years (range, 30‐72 years) in Gen 1 (P < .001). In the parametric model, the estimated change in the expected age at onset for the entire cohort was 7.9 years (P < .0001). Statistically significant earlier ages at diagnosis also were observed within subgroups of BRCA1 and BRCA2 mutations, maternal inheritance, paternal inheritance, breast cancer only, and breast cancer‐identified and ovarian cancer‐identified families.

CONCLUSIONS:

Breast and ovarian cancers in BRCA mutation carriers appeared to be diagnosed at an earlier age in later generations. The authors concluded that patients who are younger at the onset of BRCA‐related cancers should continue to be tracked to offer appropriate screening modalities at appropriate ages. Cancer 2011. © 2011 American Cancer Society.

📜 SIMILAR VOLUMES

BRCA1 and BRCA2 mutation analysis of ear
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico
✍ Pablo Ruiz-Flores; Olga M. Sinilnikova; Michael Badzioch; A.L. Calderon-Garcidue 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients. One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (< or =35 years). Besides these two likel

Mutational analysis of BRCA1 and BRCA2 i
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
✍ J.I. Martínez-Ferrandis; A. Vega; I. Chirivella; P. Marín-García; A. Insa; A. Ll 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

In Spain, the contribution of BRCA mutations to the population incidence of early-onset breast cancer was unknown. We carried out a mutational analysis of the BRCA1 and BRCA2 genes in 124 Spanish women diagnosed with breast cancer before the age 41 and who were not selected for a family history of t

The analysis of BRCA1 mutations in easte
The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives
✍ Zhen Hu; Jiong Wu; Can-Hui Liu; Jing-Song Lu; Jian-Ming Luo; Qi-Xia Han; Zhen-Zh 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

To study the BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives, 41 patients' genomic DNA from peripheral mononuclear blood cells was studied by using single strand conformational polymorphism (SSCP) and DNA sequencing. The BRCA1 mutations were detected

Clustering of cancer-related mutations i
Clustering of cancer-related mutations in a subset of BRCA1 alleles: A study in the Spanish population
✍ Miguel de La hoya; Sara Sulleiro; Ana Osorio; Orland Díez; Montserrat Baiget; Ja 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 French ⚖ 66 KB

## Abstract We have observed that the frequency of D17S855 short alleles (139 bp and 141 bp) in individuals carrying BRCA1 germline mutations is higher than in controls (54% __vs.__ 31%, __p__ = 0.0004). By unambiguously establishing mutation/D17S855 phase in 18 BRCA1‐positive families, we find tha

Mutation analysis of the BRCA1 and BRCA2
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
✍ Kathleen Claes; Eva Machackova; Michel De Vos; Geert Mortier; Anne De Paepe; Lud 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within thi

Mean age of tumor onset in hereditary no
Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes
✍ Valeria Pensotti; Paolo Radice; Silvano Presciuttini; Daniele Calistri; Isabella 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views

Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran