Hereditary Cancer

Study: Inherited breast cancer in Nigerian women

A new study shows that among Nigerian women, one in eight cases of breast cancer is due to an inherited mutation in BRCA1, BRCA2, PALB2 or TP53. (12/5/18)

Study: Can population-based DNA sequencing find more people at risk for hereditary cancers?

It is well documented that many BRCA mutation carriers are missed using current family history-based screening approaches. As a result, experts are beginning to call for population-based BRCA genetic testing—an organized effort to screen all women like we do for breast and cervical cancer.  A recent study looked at whether a population-based genetic testing approach would better identify mutation carriers compared with current practice. (11/17/18)

Article: The importance of racial diversity in clinical trials

This article by journalists Caroline Chen and Riley Wong looks at racial disparities between participation in clinical trials and the population of people with cancer. (11/6/18)

Este artículo está disponible en español.

Study: A new method for determining whether genetic variants in BRCA1 increase cancer risk

Ever since BRCA1 was discovered, researchers have been trying to understand which of the thousands of possible DNA changes in this gene increase cancer risk and which are harmless changes.  A new study in Nature reports how a cutting-edge technology called “genome editing” may be used to classify changes—known as variants of uncertain significance-in BRCA1 as harmful or harmless. Once validated, this same technology may be used to classify variants in other genes. (9/29/18)

Article: Cancer experience in families affects decision making

Women with inherited mutations in genes that increase breast and ovarian cancer risk have an additional challenge: coping with how those mutations impact their families and how a family member’s cancer experience can shape their own perception. In a recent U.S. News and World Report article, Elaine Howley explores how a woman's decisions about healthcare, cancer prevention and treatment are affected by experience with cancer in the family. (9/25/18)

Study: Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation

Does hormone therapy (HT) alter the risk of breast cancer for woman carrying a BRCA1 mutation who have never been diagnosed with cancer? In this study, researchers showed that among women with BRCA1 mutations, HT use did not increase breast cancer rates for 10 years after ovary removal. More women taking combined estrogen plus progesterone developed breast cancer compared to those taking estrogen only, though this difference was not statistically significant. (9/7/18)

Study: Study identifies genes associated with risk of triple-negative breast cancer

Panel testing can identify women who are at increased risk for breast cancer.  However, those at risk for triple-negative breast cancer cannot easily be identified because other than BRCA1, genes that increase the risk for triple-negative breast cancer are unknown.  A new study uses panel testing to identify which genes increase the risk for triple-negative breast cancer. (8/23/18)

Article: Interview with Angelina Jolie's doctor promotes meatless diet and scientific inaccuracies

Dr. Kristi Funk, Angelina Jolie's Hollywood breast surgeon, is promoting her new book about breast cancer. This article from the UK newspaper The Times includes an interview with Funk about her book, which proposes that diet is responsible for breast cancer. This XRAYS addresses scientific inaccuracies in this article. (8/7/18)

Study: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations

A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)

Study: Disparities in research impact breast screening guidelines

For women at average risk of breast cancer, the United States Preventive Services Task Force (USPSTF) currently recommends beginning annual breast cancer screening at age 50. However, because these guidelines are largely based on data from white women, they may not be sensitive to racial differences.  A new study assesses the age distribution of breast cancer cases across race/ethnicity in the U.S. (6/21/18)