Family planning in carriers of BRCA1 and BRCA2 pathogenic variants

Abstract

BRCA1 and BRCA2 pathogenic variant carriers have a high lifetime risk of developing breast and ovarian malignancies. Given the risks and significant ramifications of undergoing risk-reducing surgeries, many pathogenic variant carriers unaffected by cancer (previvors) struggle with family planning and reproductive decision making. The objective of this study was to determine the attitudes and practices of BRCA1 and BRCA2 pathogenic variant carriers with respect to family planning decision making. A cross-sectional survey was conducted of BRCA1 and BRCA2 previvors at four Northeastern medical centers. The survey was administered electronically via email using REDCap. The survey included demographic information as well as questions about genetic testing, prophylactic surgeries, family planning, and partnering. Data were analyzed with Fisher's exact tests and t tests. The survey was completed by 139 of 422 BRCA1 and BRCA2 pathogenic variant carriers (response rate 33%). Thirteen were excluded from analysis due to self-reported cancer history. Of the remaining 126, 21 (16.7%) were male and 105 (83.3%) were female. Female participants <35 years old at the time of genetic testing were significantly more likely than those 35 or greater to report feeling urgency to have a family after finding out about their BRCA1 and BRCA2 pathogenic variant (p < 0.0001). Younger women also reported their genetic status had a stronger impact on their romantic relationships (p = 0.029). Men were significantly more likely to report that they felt no urgency to have a family compared to women (p < 0.0001). Our study reflects the complex decision making for previvors and the intricacies of family planning in this population. Providers can use this knowledge as a guide to counsel patients about reproductive options.

Impact of BRCA Status on Reproductive Decision-Making and Self-Concept: A Mixed-Methods Study Informing the Development of Tailored Interventions

“…In our sample, most women (61%) were of reproductive age (18-40 years-old) when they underwent BRCA testing and two-thirds (68%) had a child at the time of testing. Our observations are similar to a recent study reporting 54/139 (39%) BRCA+ women were younger than 35 years-old at the time of testing and 99/139 (71%) had a child at the time of testing [2]. As BRCA testing expands, there are growing numbers of women of reproductive age who harbor pathogenic BRCA variants [28].…”

“…Technological advances and growing applications of genomics in clinical practice have increased the availability and utilization of genetic testing for variants in breast cancer 1 and 2 (BRCA) genes [1,2]. Genetic testing for BRCA genes informs the individual lifetime risk of developing hereditary breast and ovarian cancer (HBOC) and other BRCA-related cancers [3,4].…”

“…Indeed, much of the BRCA literature has focused on women's decision-making regarding genetic testing and risk-reducing surgeries (i.e., mastectomy, salpingo-oophorectomy, hysterectomy). However, learning one's BRCA+ status and the risk of passing the BRCA pathogenic variant to offspring may significantly impact reproductive decision-making [1,2,4,8,9].…”

Barriers to hormone therapy following prophylactic bilateral salpingo-oophorectomy in BRCA1/2 mutation carriers

“…This study was a subanalysis of a larger cross-sectional survey study about attitudes and behaviors toward genetic testing, risk reduction, and family planning administered to women with BRCA1 or BRCA2 genetic variants at four gynecologic oncology practices in the northeast United States. 19 As a part of the study, participants were asked questions about their experience with risk-reducing procedures and HT use. Recruitment criteria included the following: (1) English speaking, (2) received a positive BRCA1 or BRCA2 genetic test result, (3) at least 18 years of age, and (4) unaffected (ie, no cancer).…”

Circular RNA_0006014 promotes breast cancer progression through sponging miR-885-3p to regulate NTRK2 and PIK3/AKT pathway

“…Similarly, breast cancer had the highest number of new cases of cancer among Chinese women in 2020 with a rate of 19.9% [ 1 ] and results in a major cancer burden in China. To date, high endogenous estrogen levels [ 3 ], family history of breast cancer [ 4 , 5 ], endometriosis [ 6 ], genetic mutations [ 7 , 8 ], etc. have been proven to be risk factors for breast cancer.…”