BRCA Journal Club

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor.

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes.

Inherited Mutations in Women With Ovarian Carcinoma.

Germline mutations in BRCA1 and BRCA2 are relatively common in women with ovarian, fallopian tube, and peritoneal carcinoma (OC) causing a greatly increased lifetime risk of these cancers, but the frequency and relevance of inherited mutations in other genes is less well characterized. This study set out to determine the frequency and importance of germline…

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

Mutations in BRCA1 and BRCA2 were first discovered in the mid-1990s in families with multiple cases of breast and ovarian cancer and remain the major cause of inherited susceptibility to these malignancies. At first, testing for mutations in these genes was limited to women with cancer diagnosis at a young age or with a substantial…

BRCA Mutation Testing Increasing in Younger Women

The proportion of women diagnosed with breast cancer at 40 years of age or younger who undergo BRCA1 and BRCA2 mutation testing is increasing, according to a new study. In fact, the proportion went from 77% in 2006 to 95% in 2013, Shoshana M. Rosenberg, ScD, MPH, from the Dana-Farber Cancer Institute in Boston, and…

BRCA Journal Club

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Inherited Mutations in Women With Ovarian Carcinoma.

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

BRCA Mutation Testing Increasing in Younger Women

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