ICARE Newsletter Spring 2022 

 Ask the Expert 

The below question was addressed by ICARE Founder, Dr. Tuya Pal, and her oncology colleague, Dr. Sonya Reid. Dr. Pal is a Professor of Genetic Medicine, Ingram Professor of Cancer Research, and the Associate Director for Cancer Health Disparities at VanderbiltIngram Cancer Center. Dr. Reid is an Assistant Professor of Hematology/Oncology at Vanderbilt University Medical Center. Drs. Pal and Reid work in collaboration to better understand inherited breast cancer and cancer health disparities.
What specific types of breast cancer occur in inherited breast cancers? Does having an inherited form of
breast cancer affect survival?

For a long time, we have known that most breast cancers in BRCA1 carriers are triple negative, which are also more common in BRCA2 and PALB2 carriers, even though they do not make up most breast cancers in these women. A recent international study showed that breast cancer pathology and other clinical features differ by inherited breast cancer gene, 1 as shown in the table. We have also been looking at this question in ICARE participants, and have found similar
results, which we presented at the Annual American College of Medical Genetics (ACMG) Meeting.2 Beyond the tumor characteristics, we are trying to better understand the genomics of tumors in individuals with breast cancer and an inherited breast cancer gene and are in the process of conducting a study to learn more about these cancers. This
information could tell us more about how these tumors develop and give us more clues about how to best treat them. We are grateful to our ICARE participants, who have made these efforts possible! Regarding survival for inherited forms of breast cancer, most studies to date have suggested that outcomes of these women do not differ from women with sporadic breast cancer. Most recently, a study found there were BETTER short-term outcomes among women with triple negative breast cancer and BRCA1 or BRCA2 mutations (which was also seen in those with ovarian cancer and BRCA2, BRIP1, RAD51C, or ATM mutations). These findings may be reassuring to individuals with inherited gene mutations related to breast and ovarian cancer.
Breast Cancer Association Consortium. JAMA Oncol. 2022 Jan. PMID: 35084436. Social media post February 1st, 2022. Available at: https://tinyurl.com/post20122;

Shah et al. Breast Cancer Characteristics Among Women with Hereditary Breast Cancer. 2022 ACMG Annual Clinical Genetics Meeting, Nashville, TN. Abstract available at https://tinyurl.com/ACMGeP059;

Kurian et al. J Natl Cancer Inst. 2021 Aug. PMID: 34373918. Social media post February 18th, 2022. Available at: https://tinyurl.com/post21822.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-ask-the-expert/